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


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16p11.2 Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDOA aldolase, fructose-bisphosphate A ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:18,077,241...18,083,053 JBrowse link
G ASPHD1 aspartate beta-hydroxylase domain containing 1 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:17,941,306...17,945,594
Ensembl chr 6:17,941,574...17,945,217 		JBrowse link
G ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 6:18,384,981...18,400,038
Ensembl chr 6:18,385,007...18,400,036 		JBrowse link
G ATXN2L ataxin 2 like ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 6:18,342,953...18,355,421
Ensembl chr 6:18,343,016...18,385,112 		JBrowse link
G BOLA2B bolA family member 2B ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:31690835 NCBI chr 6:18,170,106...18,171,012 JBrowse link
G C6H16orf54 chromosome 6 C16orf54 homolog ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:17,811,506...17,815,122
Ensembl chr 6:17,812,667...17,853,083 		JBrowse link
G C6H16orf92 chromosome 6 C16orf92 homolog ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:18,051,019...18,053,729
Ensembl chr 6:18,052,621...18,054,126 		JBrowse link
G CD19 CD19 molecule ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 6:18,419,092...18,425,524
Ensembl chr 6:18,418,241...18,425,400 		JBrowse link
G CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:17,910,141...17,914,573
Ensembl chr 6:17,910,192...17,914,653 		JBrowse link
G CORO1A coronin 1A ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:18,161,850...18,167,915
Ensembl chr 6:18,160,601...18,167,818 		JBrowse link
G DOC2A double C2 domain alpha ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:18,041,551...18,046,779
Ensembl chr 6:18,041,296...18,046,265 		JBrowse link
G GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:18,103,273...18,108,818
Ensembl chr 6:18,103,267...18,108,533 		JBrowse link
G HIRIP3 HIRA interacting protein 3 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:18,030,070...18,032,774
Ensembl chr 6:18,030,074...18,032,730 		JBrowse link
G INO80E INO80 complex subunit E ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:18,033,366...18,041,604
Ensembl chr 6:18,033,363...18,041,308 		JBrowse link
G KCTD13 potassium channel tetramerization domain containing 13 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:17,945,541...17,959,421
Ensembl chr 6:17,946,062...17,959,232 		JBrowse link
G KIF22 kinesin family member 22 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:17,853,190...17,865,386
Ensembl chr 6:17,853,149...17,865,386 		JBrowse link
G LAT linker for activation of T cells ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 6:18,458,985...18,462,463
Ensembl chr 6:18,459,061...18,462,694 		JBrowse link
G LOC102157295 atherin ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 NCBI chr 6:18,069,839...18,077,265 JBrowse link
G LOC610540 pulmonary surfactant-associated protein A-like ISO ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 NCBI chr 4:29,430,139...29,434,640 JBrowse link
G MAPK3 mitogen-activated protein kinase 3 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:18,109,184...18,115,728
Ensembl chr 6:18,109,222...18,114,425 		JBrowse link
G MAZ MYC associated zinc finger protein ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:17,867,491...17,870,108
Ensembl chr 6:17,867,488...17,870,197 		JBrowse link
G MVP major vault protein ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:17,879,687...17,903,184
Ensembl chr 6:17,873,521...17,903,184 		JBrowse link
G NFATC2IP nuclear factor of activated T cells 2 interacting protein ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 6:18,433,421...18,444,148
Ensembl chr 6:18,432,809...18,443,922 		JBrowse link
G PAGR1 PAXIP1 associated glutamate rich protein 1 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:17,876,740...17,879,546 JBrowse link
G PPP4C protein phosphatase 4 catalytic subunit ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:18,085,048...18,092,861
Ensembl chr 6:18,085,116...18,092,854 		JBrowse link
G PRRT2 proline rich transmembrane protein 2 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:17,872,670...17,877,502
Ensembl chr 6:17,873,521...17,903,184 		JBrowse link
G QPRT quinolinate phosphoribosyltransferase ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:17,778,664...17,794,110
Ensembl chr 6:17,779,439...17,794,035 		JBrowse link
G RABEP2 rabaptin, RAB GTPase binding effector protein 2 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 6:18,399,992...18,413,537
Ensembl chr 6:18,397,161...18,456,477 		JBrowse link
G SEZ6L2 seizure related 6 homolog like 2 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:17,920,413...17,938,382
Ensembl chr 6:17,921,311...17,945,738 		JBrowse link
G SH2B1 SH2B adaptor protein 1 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 6:18,370,881...18,380,965
Ensembl chr 6:18,371,832...18,380,962 		JBrowse link
G SLX1A SLX1 homolog A, structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:31690835 NCBI chr 6:18,171,190...18,174,577 JBrowse link
G SPN sialophorin ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:17,770,303...17,774,946 JBrowse link
G SPNS1 SPNS lysolipid transporter 1, lysophospholipid ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 6:18,450,019...18,458,456
Ensembl chr 6:18,412,219...18,459,438 		JBrowse link
G TAOK2 TAO kinase 2 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:18,014,685...18,029,188
Ensembl chr 6:18,000,138...18,029,185 		JBrowse link
G TBX6 T-box transcription factor 6 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:18,093,201...18,098,592
Ensembl chr 6:18,093,189...18,097,636 		JBrowse link
G TLCD3B TLC domain containing 3B ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:18,053,841...18,062,755
Ensembl chr 6:18,054,632...18,055,914 		JBrowse link
G TMEM219 transmembrane protein 219 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:17,959,490...18,014,813
Ensembl chr 6:18,000,138...18,029,185 		JBrowse link
G TUFM Tu translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 6:18,357,223...18,360,929
Ensembl chr 6:18,357,244...18,361,557 		JBrowse link
G YPEL3 yippee like 3 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:18,098,761...18,102,062
Ensembl chr 6:18,098,788...18,102,068 		JBrowse link
G ZG16 zymogen granule protein 16 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:17,840,430...17,842,008
Ensembl chr 6:17,839,553...17,842,006 		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 chr 5:64,288,339...64,338,596
Ensembl chr 5:64,289,295...64,414,637 		JBrowse link
G ANKRD11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:64,047,188...64,229,582
Ensembl chr 5:64,047,175...64,229,077 		JBrowse link
G APRT adenine phosphoribosyltransferase ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:64,563,154...64,565,537
Ensembl chr 5:64,563,192...64,565,445 		JBrowse link
G BANP BTG3 associated nuclear protein ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:65,151,863...65,256,782
Ensembl chr 5:65,152,247...65,256,667 		JBrowse link
G C5H16orf95 chromosome 5 C16orf95 homolog ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:65,738,445...65,757,635 JBrowse link
G CA5A carbonic anhydrase 5A ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:65,269,855...65,297,593
Ensembl chr 5:65,269,635...65,296,777 		JBrowse link
G CBFA2T3 CBFA2/RUNX1 partner transcriptional co-repressor 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:64,432,291...64,518,905
Ensembl chr 5:64,431,843...64,519,528 		JBrowse link
G CDH15 cadherin 15 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:64,258,451...64,277,184
Ensembl chr 5:64,258,741...64,277,190 		JBrowse link
G CDT1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:64,566,035...64,570,361
Ensembl chr 5:64,566,043...64,570,748 		JBrowse link
G CPNE7 copine 7 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:63,951,547...63,978,389
Ensembl chr 5:63,951,549...63,978,601 		JBrowse link
G CTU2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:64,640,389...64,647,298
Ensembl chr 5:64,640,389...64,647,215 		JBrowse link
G CYBA cytochrome b-245 alpha chain ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:64,692,865...64,701,056
Ensembl chr 5:64,692,123...64,704,893 		JBrowse link
G FBXO31 F-box protein 31 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:65,703,591...65,734,956
Ensembl chr 5:65,703,575...65,731,056 		JBrowse link
G GALNS galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:64,534,194...64,562,169
Ensembl chr 5:64,534,131...64,562,169 		JBrowse link
G IL17C interleukin 17C ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:64,702,668...64,703,694
Ensembl chr 5:64,702,730...64,703,984 		JBrowse link
G JPH3 junctophilin 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:65,445,329...65,530,288
Ensembl chr 5:65,451,050...65,530,294 		JBrowse link
G KLHDC4 kelch domain containing 4 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:65,387,373...65,442,333
Ensembl chr 5:65,387,374...65,441,645 		JBrowse link
G MAP1LC3B microtubule associated protein 1 light chain 3 beta ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:65,669,553...65,683,445 JBrowse link
G MVD mevalonate diphosphate decarboxylase ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:64,683,146...64,691,576
Ensembl chr 5:64,682,276...64,691,073 		JBrowse link
G PABPN1L PABPN1 like, cytoplasmic ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:64,525,929...64,527,654 JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:64,584,153...64,640,423
Ensembl chr 5:64,570,035...64,640,375 		JBrowse link
G RNF166 ring finger protein 166 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:64,647,411...64,655,994
Ensembl chr 5:64,647,415...64,655,999 		JBrowse link
G RPL13 ribosomal protein L13 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:63,978,424...63,980,698
Ensembl chr 5:63,978,424...63,980,603 		JBrowse link
G SLC22A31 solute carrier family 22 member 31 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:64,254,330...64,258,295
Ensembl chr 5:64,255,239...64,259,186 		JBrowse link
G SLC7A5 solute carrier family 7 member 5 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:65,313,105...65,343,858
Ensembl chr 5:65,313,105...65,343,858 		JBrowse link
G SNAI3 snail family transcriptional repressor 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:64,661,122...64,668,589
Ensembl chr 5:64,661,190...64,667,690 		JBrowse link
G TRAPPC2L trafficking protein particle complex subunit 2L ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:64,529,186...64,534,090
Ensembl chr 5:64,530,746...64,534,035 		JBrowse link
G ZC3H18 zinc finger CCCH-type containing 18 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:64,708,472...64,774,098
Ensembl chr 5:64,704,083...64,766,994 		JBrowse link
G ZCCHC14 zinc finger CCHC-type containing 14 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:65,611,032...65,667,162
Ensembl chr 5:65,611,026...65,664,923 		JBrowse link
G ZFPM1 zinc finger protein, FOG family member 1 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:64,812,353...64,863,278 JBrowse link
G ZNF469 zinc finger protein 469 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:64,887,534...64,903,553 JBrowse link
1q24 Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABL2 ABL proto-oncogene 2, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 7:20,696,659...20,735,362
Ensembl chr 7:20,700,144...20,727,410 		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 7:13,836,665...14,043,996
Ensembl chr 7:13,836,667...14,044,156 		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 7:20,919,192...20,945,140
Ensembl chr 7:20,919,214...20,940,792 		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 7:25,508,417...25,560,123
Ensembl chr 7:25,508,239...25,659,475 		JBrowse link
G ASTN1 astrotactin 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 7:22,455,117...22,752,044
Ensembl chr 7:22,455,499...22,757,029 		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 7:29,464,132...29,487,124
Ensembl chr 7:29,464,132...29,487,947 		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 7:20,375,973...20,480,886
Ensembl chr 7:20,383,249...20,480,823 		JBrowse link
G BLZF1 basic leucine zipper nuclear factor 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 7:29,182,098...29,205,909
Ensembl chr 7:29,183,132...29,206,040 		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 7:22,332,465...22,449,295
Ensembl chr 7:22,339,056...22,448,854 		JBrowse link
G C7H1orf105 chromosome 7 C1orf105 homolog ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 7:26,490,012...26,561,542 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 7:14,892,165...15,267,418
Ensembl chr 7:14,707,801...15,267,422 		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 7:24,372,599...24,384,084
Ensembl chr 7:24,372,596...24,383,926 		JBrowse link
G CCDC181 coiled-coil domain containing 181 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 7:29,136,183...29,173,753
Ensembl chr 7:29,141,746...29,173,753 		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 7:25,406,881...25,430,084
Ensembl chr 7:25,407,183...25,423,219 		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 7:13,552,784...13,677,410
Ensembl chr 7:13,552,815...13,673,716 		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 7:23,320,483...23,565,093
Ensembl chr 7:23,277,209...23,563,397 		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 7:25,378,705...25,406,975
Ensembl chr 7:25,378,705...25,406,947 		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 7:16,233,763...16,292,576
Ensembl chr 7:16,233,814...16,292,618 		JBrowse link
G DNM3 dynamin 3 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 7:26,569,708...27,024,939
Ensembl chr 7:26,574,453...27,024,759 		JBrowse link
G F5 coagulation factor V ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 7:28,999,481...29,069,603
Ensembl chr 7:28,999,512...29,069,296 		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 7:20,148,593...20,224,752
Ensembl chr 7:20,148,588...20,153,443 		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 7:20,753,959...20,794,538
Ensembl chr 7:20,757,145...20,794,538 		JBrowse link
G FASLG Fas ligand ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224 		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 7:28,792,037...28,835,647
Ensembl chr 7:28,796,078...28,835,564 		JBrowse link
G FMO1 flavin containing dimethylaniline monoxygenase 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 7:27,599,230...27,623,081
Ensembl chr 7:27,599,267...27,618,237 		JBrowse link
G FMO2 flavin containing dimethylaniline monoxygenase 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 7:27,634,624...27,659,111
Ensembl chr 7:27,634,900...27,659,037 		JBrowse link
G FMO3 flavin containing dimethylaniline monoxygenase 3 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 7:27,720,420...27,745,522
Ensembl chr 7:27,720,420...27,845,626 		JBrowse link
G FMO4 flavin containing dimethylaniline monoxygenase 4 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 7:27,529,034...27,596,467
Ensembl chr 7:27,568,438...27,596,350 		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 7:15,730,898...15,740,241
Ensembl chr 7:15,730,898...15,740,241 		JBrowse link
G GORAB golgin, RAB6 interacting ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 7:28,220,679...28,241,035
Ensembl chr 7:28,221,064...28,241,012 		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 7:24,858,588...24,862,982
Ensembl chr 7:24,860,473...24,862,117 		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 7:14,554,184...14,557,929
Ensembl chr 7:14,555,992...14,556,930 		JBrowse link
G KIAA0040 KIAA0040 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 7:24,201,130...24,235,716
Ensembl chr 7:24,235,021...24,235,323 		JBrowse link
G KIAA1614 KIAA1614 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 7:14,391,172...14,445,896
Ensembl chr 7:14,403,256...14,445,198 		JBrowse link
G KIFAP3 kinesin associated protein 3 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 7:28,581,855...28,739,327
Ensembl chr 7:28,593,425...28,739,272 		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 7:25,430,490...25,484,245
Ensembl chr 7:25,430,745...25,484,311 		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 7:16,406,421...16,528,372
Ensembl chr 7:16,404,495...16,526,000 		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 7:16,543,541...16,625,304
Ensembl chr 7:16,569,086...16,624,085 		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 7:13,779,574...13,825,650
Ensembl chr 7:13,779,774...13,821,317 		JBrowse link
G LOC100687115 transmembrane epididymal protein 1-like ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 7:15,761,308...15,763,087 JBrowse link
G LOC106557472 torsin-1A-interacting protein 2-like ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 7:13,411,955...13,453,366
Ensembl chr 7:13,414,910...13,435,161 		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 7:27,159,425...27,175,144 JBrowse link
G METTL18 methyltransferase 18, RPL3 N3(tau)-histidine ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 7:28,835,753...28,838,512
Ensembl chr 7:28,837,350...28,838,447 		JBrowse link
G MIR199-2 microRNA mir-199-2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 7:26,812,766...26,812,824
Ensembl chr 7:26,812,735...26,812,838 		JBrowse link
G MIR214 microRNA mir-214 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 7:26,818,559...26,818,668
Ensembl chr 7:26,818,559...26,818,670 		JBrowse link
G MR1 major histocompatibility complex, class I-related ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 7:14,521,735...14,531,296 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 7:27,799,722...27,898,885
Ensembl chr 7:27,800,009...27,898,869 		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 7:24,342,371...24,368,519 JBrowse link
G MYOC myocilin ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 7:27,335,314...27,346,821
Ensembl chr 7:27,335,314...27,346,820 		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 7:16,914,629...16,946,370
Ensembl chr 7:16,904,031...16,945,372 		JBrowse link
G NME7 NME/NM23 family member 7 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 7:29,201,273...29,464,072
Ensembl chr 7:29,206,307...29,463,467 		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 7:16,626,213...16,819,681
Ensembl chr 7:16,631,116...16,805,457 		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 7:20,347,526...20,375,975
Ensembl chr 7:20,354,134...20,374,020 		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 7:16,186,693...16,226,658
Ensembl chr 7:16,192,005...16,224,033 		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 7:28,520,322...28,543,846
Ensembl chr 7:28,524,761...28,544,379 		JBrowse link
G PAPPA2 pappalysin 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 7:22,769,594...23,038,458
Ensembl chr 7:22,772,715...23,036,517 		JBrowse link
G PIGC phosphatidylinositol glycan anchor biosynthesis class C ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 7:26,548,894...26,551,702
Ensembl chr 7:26,550,524...26,551,417 		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 7:25,663,238...25,675,855
Ensembl chr 7:25,663,579...25,675,754 		JBrowse link
G PRRC2C proline rich coiled-coil 2C ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 7:27,372,677...27,474,790
Ensembl chr 7:27,374,318...27,474,785 		JBrowse link
G PRRX1 paired related homeobox 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 7:28,065,570...28,138,734
Ensembl chr 7:28,068,711...28,138,787 		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 7:13,718,799...13,754,115
Ensembl chr 7:13,718,799...13,754,114 		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 7:24,390,324...25,132,699
Ensembl chr 7:24,394,861...25,132,932 		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 7:20,874,227...21,031,817
Ensembl chr 7:20,879,492...21,005,154 		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 7:21,243,984...21,591,932
Ensembl chr 7:21,222,089...21,591,973 		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 7:25,265,836...25,312,417
Ensembl chr 7:25,233,235...25,305,174 		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 7:16,009,283...16,015,228
Ensembl chr 7:16,009,271...16,015,597 		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 7:16,053,946...16,081,661
Ensembl chr 7:16,053,946...16,080,388 		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 7:15,739,709...15,985,528
Ensembl chr 7:15,740,928...15,872,257 		JBrowse link
G RNASEL ribonuclease L ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 7:15,978,055...16,001,604
Ensembl chr 7:15,856,151...16,001,569 		JBrowse link
G SCYL3 SCY1 like pseudokinase 3 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 7:28,751,604...28,796,042
Ensembl chr 7:28,751,707...28,795,756 		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 7:21,683,310...21,739,914
Ensembl chr 7:21,698,411...21,738,954 		JBrowse link
G SELE selectin E ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 7:28,888,503...28,898,787
Ensembl chr 7:28,888,197...28,898,786 		JBrowse link
G SELL selectin L ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 7:28,906,752...28,927,959
Ensembl chr 7:28,906,809...29,094,008 		JBrowse link
G SELP selectin P ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 7:28,956,428...28,997,266
Ensembl chr 7:28,958,486...28,996,313 		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 7:25,322,668...25,333,022
Ensembl chr 7:25,316,129...25,332,987 		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 7:16,299,963...16,343,430
Ensembl chr 7:16,299,986...16,343,439 		JBrowse link
G SLC19A2 solute carrier family 19 member 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 7:29,094,341...29,114,319
Ensembl chr 7:29,094,101...29,113,249 		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 7:25,553,745...25,659,461
Ensembl chr 7:25,508,239...25,659,475 		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 7:16,820,938...16,913,359
Ensembl chr 7:16,820,882...16,911,377 		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 7:20,481,386...20,556,706
Ensembl chr 7:20,486,069...20,546,055 		JBrowse link
G STX6 syntaxin 6 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 7:14,452,663...14,506,120
Ensembl chr 7:14,458,404...14,556,917 		JBrowse link
G SUCO SUN domain containing ossification factor ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 7:26,375,414...26,410,001
Ensembl chr 7:26,376,990...26,464,125 		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 7:20,259,940...20,348,014
Ensembl chr 7:20,261,630...20,348,650 		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 7:21,202,638...21,213,926
Ensembl chr 7:21,203,226...21,212,163 		JBrowse link
G TNFSF18 TNF superfamily member 18 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 7:25,983,064...25,994,605
Ensembl chr 7:25,963,719...25,992,801 		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 7:25,883,297...25,909,608
Ensembl chr 7:25,883,251...25,906,892 		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 7:24,246,481...24,342,686
Ensembl chr 7:24,230,930...24,308,520 		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 7:23,721,227...24,125,183
Ensembl chr 7:24,019,095...24,122,530 		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 7:13,452,808...13,501,392
Ensembl chr 7:13,452,949...13,501,307 		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 7:20,737,733...20,754,368
Ensembl chr 7:20,738,161...20,750,635 		JBrowse link
G VAMP4 vesicle associated membrane protein 4 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 7:27,278,200...27,303,499
Ensembl chr 7:27,278,231...27,302,225 		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 7:14,165,608...14,379,822
Ensembl chr 7:14,165,608...14,379,822 		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 7:25,333,540...25,362,098
Ensembl chr 7:25,349,786...25,361,439 		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 7:15,479,169...15,485,292
Ensembl chr 7:15,479,793...15,481,502 		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 chr28:14,362,407...14,367,109
Ensembl chr28:14,362,109...14,367,468 		JBrowse link
G SIX1 SIX homeobox 1 ISO RGD PMID:21364285 RGD:11561941 NCBI chr 8:35,676,705...35,679,534
Ensembl chr 8:35,676,479...35,679,534 		JBrowse link
G TBX1 T-box transcription factor 1 ISO RGD PMID:16452092 RGD:155663362 NCBI chr26:29,529,071...29,533,240
Ensembl chr26:29,528,878...29,532,784 		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 chr23:26,824,219...27,012,601
Ensembl chr23:26,823,479...27,010,908 		JBrowse link
G BTD biotinidase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr23:27,037,640...27,069,544
Ensembl chr23:27,037,921...27,069,456 		JBrowse link
G C20H3orf20 chromosome 20 C3orf20 homolog ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr20:4,778,660...4,856,887
Ensembl chr20:4,788,521...4,856,886 		JBrowse link
G CAPN7 calpain 7 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr23:27,336,079...27,377,584
Ensembl chr23:27,336,843...27,378,606 		JBrowse link
G CCDC174 coiled-coil domain containing 174 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr20:4,753,433...4,778,446
Ensembl chr20:4,753,542...4,776,032 		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 chr20:4,268,670...4,281,624
Ensembl chr20:4,267,683...4,281,549 		JBrowse link
G DAZL deleted in azoospermia like ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr23:26,194,061...26,212,506 JBrowse link
G DPH3 diphthamide biosynthesis 3 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr23:26,522,367...26,529,808
Ensembl chr23:26,522,374...26,527,827 		JBrowse link
G EAF1 ELL associated factor 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr23:27,188,983...27,203,441
Ensembl chr23:27,159,751...27,203,558 		JBrowse link
G EFHB EF-hand domain family member B ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr23:23,337,293...23,384,362
Ensembl chr23:23,335,956...23,384,193 		JBrowse link
G FBLN2 fibulin 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr20:3,874,896...3,935,059
Ensembl chr20:3,874,896...3,934,717 		JBrowse link
G FGD5 FYVE, RhoGEF and PH domain containing 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr20:4,905,898...5,028,637
Ensembl chr20:4,906,800...5,027,537 		JBrowse link
G GALNT15 polypeptide N-acetylgalactosaminyltransferase 15 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr23:26,555,160...26,603,549
Ensembl chr23:26,556,863...26,602,960 		JBrowse link
G GRIP2 glutamate receptor interacting protein 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr20:4,618,702...4,677,040
Ensembl chr20:4,620,179...4,677,263 		JBrowse link
G HDAC11 histone deacetylase 11 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr20:3,792,832...3,815,922
Ensembl chr20:3,792,693...3,837,192 		JBrowse link
G KAT2B lysine acetyltransferase 2B ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr23:23,166,722...23,242,447
Ensembl chr23:23,168,600...23,233,478 		JBrowse link
G KCNH8 potassium voltage-gated channel subfamily H member 8 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr23:23,618,496...23,984,735
Ensembl chr23:23,623,031...23,985,414 		JBrowse link
G LOC608697 2-hydroxyacyl-CoA lyase 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr23:27,069,676...27,188,247 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 chr20:4,328,930...4,342,731
Ensembl chr20:4,329,038...4,342,859 		JBrowse link
G MRPS25 mitochondrial ribosomal protein S25 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr20:5,141,812...5,152,507
Ensembl chr20:5,141,812...5,152,513 		JBrowse link
G NR2C2 nuclear receptor subfamily 2 group C member 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr20:5,041,656...5,139,859
Ensembl chr20:5,052,232...5,133,721 		JBrowse link
G NUP210 nucleoporin 210 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr20:3,635,355...3,740,689
Ensembl chr20:3,636,476...3,721,971 		JBrowse link
G OXNAD1 oxidoreductase NAD binding domain containing 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr23:26,485,452...26,521,929
Ensembl chr23:26,485,866...26,522,086 		JBrowse link
G PLCL2 phospholipase C like 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr23:25,814,392...25,999,666
Ensembl chr23:25,814,862...25,999,749 		JBrowse link
G PP2D1 protein phosphatase 2C like domain containing 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr23:23,285,449...23,303,885
Ensembl chr23:23,285,452...23,305,086 		JBrowse link
G RAB5A RAB5A, member RAS oncogene family ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr23:23,303,650...23,333,571
Ensembl chr23:23,304,940...23,332,206 		JBrowse link
G RBSN rabenosyn, RAB effector ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr20:5,157,758...5,197,740
Ensembl chr20:5,157,923...5,197,822 		JBrowse link
G RFTN1 raftlin, lipid raft linker 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr23:26,272,103...26,472,610
Ensembl chr23:26,282,392...26,472,536 		JBrowse link
G SATB1 SATB homeobox 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr23:24,614,198...24,692,254
Ensembl chr23:24,593,489...24,690,977 		JBrowse link
G SETD5 SET domain containing 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:21681106 NCBI chr20:8,681,714...8,766,013
Ensembl chr20:8,683,738...8,732,674 		JBrowse link
G SH3BP5 SH3 domain binding protein 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr23:27,202,880...27,217,753
Ensembl chr23:27,202,875...27,334,010 		JBrowse link
G SH3BP5 SH3 domain binding protein 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr23:27,258,502...27,335,175
Ensembl chr23:27,202,875...27,334,010 		JBrowse link
G SLC6A6 solute carrier family 6 member 6 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr20:4,544,739...4,616,797
Ensembl chr20:4,531,771...4,620,605 		JBrowse link
G TBC1D5 TBC1 domain family member 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr23:25,206,825...25,758,026
Ensembl chr23:25,254,448...25,757,385 		JBrowse link
G THUMPD3 THUMP domain containing 3 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:21681106 NCBI chr20:8,779,442...8,802,286
Ensembl chr20:8,779,442...8,802,215 		JBrowse link
G TMEM43 transmembrane protein 43 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr20:4,281,815...4,298,634
Ensembl chr20:4,281,845...4,297,069 		JBrowse link
G WNT7A Wnt family member 7A ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr20:4,072,010...4,139,521
Ensembl chr20:4,073,929...4,139,436 		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 chr20:4,299,644...4,328,826
Ensembl chr20:4,300,386...4,328,768 		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 chr 9:8,275,049...8,278,172
Ensembl chr 9:8,275,049...8,278,172 		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 1:89,677,554...89,790,692
Ensembl chr 1:89,677,533...89,790,145 		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 7:35,123,417...35,130,349
Ensembl chr 7:35,117,209...35,129,134 		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 chr18:35,638,606...35,880,194
Ensembl chr18:35,639,011...36,024,005 		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...
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 chr18:35,099,660...35,148,767
Ensembl chr18:35,103,934...35,148,000 		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 chr22:30,545,991...30,557,199
Ensembl chr22:30,547,271...30,555,510 		JBrowse link
G ALG11 ALG11 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:149,538...162,206
Ensembl chr22:151,641...162,512 		JBrowse link
G ATP7B ATPase copper transporting beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:162,474...225,599
Ensembl chr22:191,888...225,266 		JBrowse link
G BORA BORA aurora kinase A activator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:26,880,351...26,906,226
Ensembl chr22:26,879,933...26,906,278 		JBrowse link
G CAB39L calcium binding protein 39 like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:2,319,239...2,426,554
Ensembl chr22:2,354,884...2,460,857 		JBrowse link
G CCDC70 coiled-coil domain containing 70 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:258,746...263,908
Ensembl chr22:258,880...259,563 		JBrowse link
G CDADC1 cytidine and dCMP deaminase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:2,443,459...2,489,147
Ensembl chr22:2,436,206...2,489,016 		JBrowse link
G CKAP2 cytoskeleton associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr25:134,914...190,810
Ensembl chr25:135,586...150,835 		JBrowse link
G CLN5 CLN5 intracellular trafficking protein ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:30,568,572...30,575,890
Ensembl chr22:30,568,572...30,575,890 		JBrowse link
G CNMD chondromodulin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:9,745,959...9,792,663
Ensembl chr22:9,753,441...9,759,713 		JBrowse link
G COMMD6 COMM domain containing 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:29,318,216...29,336,032
Ensembl chr22:29,318,231...29,336,062 		JBrowse link
G CYSLTR2 cysteinyl leukotriene receptor 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:2,914,960...2,962,517
Ensembl chr22:2,917,514...2,918,551 		JBrowse link
G DACH1 dachshund family transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:25,690,700...25,934,449
Ensembl chr22:25,726,597...25,934,550 		JBrowse link
G DIAPH3 diaphanous related formin 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:15,573,485...16,078,580
Ensembl chr22:15,573,629...16,079,031 		JBrowse link
G DIS3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:26,908,502...26,935,368
Ensembl chr22:26,909,409...26,935,033 		JBrowse link
G EBPL EBP like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:2,116,588...2,137,935
Ensembl chr22:2,116,131...2,182,633 		JBrowse link
G EDNRB endothelin receptor type B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:31,415,324...31,438,772
Ensembl chr22:31,417,308...31,437,587 		JBrowse link
G FAM124A family with sequence similarity 124 member A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:786,588...809,284 JBrowse link
G FBXL3 F-box and leucine rich repeat protein 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:30,579,598...30,598,879
Ensembl chr22:30,581,474...30,598,886 		JBrowse link
G FNDC3A fibronectin type III domain containing 3A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:2,524,173...2,700,223
Ensembl chr22:2,526,381...2,700,780 		JBrowse link
G INTS6 integrator complex subunit 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:549,221...636,810
Ensembl chr22:549,179...636,523 		JBrowse link
G ITM2B integral membrane protein 2B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:3,255,139...3,261,440
Ensembl chr22:3,255,631...3,261,433 		JBrowse link
G KCNRG potassium channel regulator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:1,870,964...1,875,849 JBrowse link
G KCTD12 potassium channel tetramerization domain containing 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:30,506,906...30,508,782
Ensembl chr22:30,503,932...30,508,632 		JBrowse link
G KLF12 KLF transcription factor 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:27,695,017...28,264,813
Ensembl chr22:27,704,686...28,123,099 		JBrowse link
G KLF5 KLF transcription factor 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:27,163,179...27,185,241
Ensembl chr22:27,162,397...27,200,871 		JBrowse link
G KLHL1 kelch like family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:24,190,862...24,554,451
Ensembl chr22:24,191,778...24,555,120 		JBrowse link
G KPNA3 karyopherin subunit alpha 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:2,064,733...2,110,524
Ensembl chr22:2,064,731...2,108,414 		JBrowse link
G LMO7 LIM domain 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:29,415,374...29,619,215
Ensembl chr22:29,415,337...29,618,667 		JBrowse link
G LOC111093530 keratin-associated protein 6-2-like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr31:25,744,080...25,745,146 JBrowse link
G LOC608729 heterogeneous nuclear ribonucleoprotein A1-like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr27:9,641,849...9,642,889 JBrowse link
G LPAR6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:3,110,797...3,112,973
Ensembl chr22:3,111,462...3,112,499 		JBrowse link
G MED4 mediator complex subunit 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:3,396,276...3,411,037
Ensembl chr22:3,396,267...3,410,608 		JBrowse link
G MIR15A microRNA mir-15a ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:1,846,880...1,846,938
Ensembl chr22:1,846,866...1,846,960 		JBrowse link
G MIR16-1 microRNA mir-16-1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:1,847,020...1,847,084
Ensembl chr22:1,847,007...1,847,093 		JBrowse link
G MLNR motilin receptor ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:2,513,218...2,515,380
Ensembl chr22:2,513,218...2,515,380 		JBrowse link
G MYCBP2 MYC binding protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:30,614,692...30,874,173
Ensembl chr22:30,615,369...30,874,370 		JBrowse link
G MZT1 mitotic spindle organizing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:26,862,454...26,880,213
Ensembl chr22:26,863,674...26,880,126 		JBrowse link
G NDFIP2 Nedd4 family interacting protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:32,723,052...32,789,409
Ensembl chr22:32,704,437...32,787,151 		JBrowse link
G NEK3 NIMA related kinase 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr25:118,558...130,901 JBrowse link
G NEK5 NIMA related kinase 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:108,089...134,987 JBrowse link
G NUDT15 nudix hydrolase 15 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:3,416,702...3,424,607
Ensembl chr22:3,416,578...3,424,409 		JBrowse link
G OBI1 ORC ubiquitin ligase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:32,006,441...32,047,609
Ensembl chr22:32,007,210...32,047,527 		JBrowse link
G OLFM4 olfactomedin 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:10,053,494...10,075,759
Ensembl chr22:9,944,025...10,074,722 		JBrowse link
G PCDH17 protocadherin 17 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:13,865,138...13,962,110
Ensembl chr22:13,865,900...13,958,405 		JBrowse link
G PCDH20 protocadherin 20 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:17,150,498...17,156,091
Ensembl chr22:17,151,913...17,155,892 		JBrowse link
G PCDH8 protocadherin 8 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:9,860,590...9,865,298
Ensembl chr22:9,860,827...9,865,412 		JBrowse link
G PCDH9 protocadherin 9 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:21,326,040...22,212,847
Ensembl chr22:21,327,856...22,213,083 		JBrowse link
G PHF11 PHD finger protein 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:2,235,758...2,263,772 JBrowse link
G PIBF1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:26,935,390...27,133,308
Ensembl chr22:26,936,567...27,133,308 		JBrowse link
G POU4F1 POU class 4 homeobox 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:31,992,657...31,997,066 JBrowse link
G RB1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726 		JBrowse link
G RBM26 RNA binding motif protein 26 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:32,579,401...32,664,370
Ensembl chr22:32,581,825...32,664,714 		JBrowse link
G RCBTB1 RCC1 and BTB domain containing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:2,183,089...2,230,748
Ensembl chr22:2,198,185...2,229,485 		JBrowse link
G RCBTB2 RCC1 and BTB domain containing protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:3,018,628...3,051,059
Ensembl chr22:3,018,137...3,051,269 		JBrowse link
G RNASEH2B ribonuclease H2 subunit B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:944,399...1,010,479
Ensembl chr22:931,751...991,223 		JBrowse link
G SCEL sciellin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:30,874,267...31,171,598
Ensembl chr22:31,045,878...31,171,033 		JBrowse link
G SERPINE3 serpin family E member 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:637,600...666,028
Ensembl chr22:636,466...663,695 		JBrowse link
G SETDB2 SET domain bifurcated histone lysine methyltransferase 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:2,263,990...2,319,249
Ensembl chr22:2,244,507...2,319,158 		JBrowse link
G SLAIN1 SLAIN motif family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:31,199,494...31,258,920
Ensembl chr22:31,199,533...31,258,021 		JBrowse link
G SLITRK1 SLIT and NTRK like family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:36,325,548...36,329,784
Ensembl chr22:36,326,751...36,328,841 		JBrowse link
G SLITRK6 SLIT and NTRK like family member 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:37,911,533...37,918,273
Ensembl chr22:37,912,612...37,925,177 		JBrowse link
G SPRY2 sprouty RTK signaling antagonist 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:33,366,139...33,371,102
Ensembl chr22:33,366,931...33,367,878 		JBrowse link
G SPRYD7 SPRY domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:1,929,814...1,947,506
Ensembl chr22:1,849,634...1,945,276 		JBrowse link
G SUCLA2 succinate-CoA ligase ADP-forming subunit beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:3,440,908...3,478,683
Ensembl chr22:3,440,923...3,478,683 		JBrowse link
G SUGT1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:9,682,026...9,723,412
Ensembl chr22:9,682,169...9,722,979 		JBrowse link
G TBC1D4 TBC1 domain family member 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:29,109,079...29,175,357
Ensembl chr22:29,110,201...29,290,154 		JBrowse link
G TDRD3 tudor domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:16,287,721...16,449,842
Ensembl chr22:16,288,473...16,444,635 		JBrowse link
G THSD1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr25:197,294...223,804
Ensembl chr25:201,301...223,560 		JBrowse link
G TRIM13 tripartite motif containing 13 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:1,877,672...1,893,097
Ensembl chr22:1,871,181...1,910,055 		JBrowse link
G UCHL3 ubiquitin C-terminal hydrolase L3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:29,348,962...29,397,944
Ensembl chr22:29,348,706...29,407,965 		JBrowse link
G VPS36 vacuolar protein sorting 36 homolog ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr25:150,984...191,531
Ensembl chr25:150,150...191,544 		JBrowse link
G WDFY2 WD repeat and FYVE domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:304,250...467,909
Ensembl chr22:304,884...428,223 		JBrowse link
chromosome 15q11.2 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APBA2 amyloid beta precursor protein binding family A member 2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 3:38,243,086...38,431,491
Ensembl chr 3:38,243,102...38,430,887 		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 chr 3:34,841,218...35,028,718
Ensembl chr 3:34,841,073...35,028,040 		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 6:2,747,288...3,875,774
Ensembl chr 6:2,748,598...3,875,611 		JBrowse link
G CCDC92B coiled-coil domain containing 92B ISO ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:46,766,991...46,799,043 JBrowse link
G CHRNA7 cholinergic receptor nicotinic alpha 7 subunit ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar NCBI chr 3:36,852,082...37,164,930
Ensembl chr 3:36,852,543...36,978,399 		JBrowse link
G CLUH clustered mitochondria homolog ISO ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:46,735,276...46,756,016
Ensembl chr 9:46,736,142...46,755,917 		JBrowse link
G CYFIP1 cytoplasmic FMR1 interacting protein 1 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:31690835 NCBI chr 3:32,096,471...32,170,107
Ensembl chr 3:32,097,037...32,187,781 		JBrowse link
G ENTREP2 endosomal transmembrane epsin interactor 2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 3:38,432,567...38,888,077
Ensembl chr 3:38,435,421...38,889,003 		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 chr 3:33,663,414...33,746,120
Ensembl chr 3:33,664,169...33,744,328 		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 chr 3:33,878,948...34,101,987
Ensembl chr 3:33,878,904...34,097,764 		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 chr 3:32,956,061...33,641,971
Ensembl chr 3:32,964,122...33,642,686 		JBrowse link
G HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:31,723,113...31,966,061
Ensembl chr 3:31,723,500...31,966,199 		JBrowse link
G LOC100685083 nuclear envelope pore membrane protein POM 121-like ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr11:1,051,404...1,095,033 JBrowse link
G LOC119866810 small nucleolar RNA SNORD115 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835
G LOC119867743 small nucleolar RNA SNORD116 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835
G LOC119871331 small nucleolar RNA SNORD115 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835
G LOC119871334 small nucleolar RNA SNORD115 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835
G LOC119871335 small nucleolar RNA SNORD115 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835
G LOC119871363 small nucleolar RNA SNORD64 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835
G LOC119871365 small nucleolar RNA SNORD108 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835
G LOC119871366 small nucleolar RNA SNORD107 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835
G LOC119871370 small nucleolar RNA SNORD109A ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835
G MAGEL2 MAGE family member L2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:36,362,021...36,366,326
Ensembl chr 3:36,363,930...36,365,870 		JBrowse link
G MKRN3 makorin ring finger protein 3 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:36,411,945...36,419,307 JBrowse link
G NDN necdin, MAGE family member ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:36,313,977...36,315,661
Ensembl chr 3:36,314,104...36,315,081 		JBrowse link
G NIPA1 NIPA magnesium transporter 1 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:31690835 NCBI chr 3:32,003,454...32,056,802
Ensembl chr 3:32,003,033...32,051,684 		JBrowse link
G NIPA2 NIPA magnesium transporter 2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:31690835 NCBI chr 3:32,051,313...32,095,379
Ensembl chr 3:32,062,708...32,094,491 		JBrowse link
G NSMCE3 NSE3 homolog, SMC5-SMC6 complex component ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835
G OCA2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:32,361,825...32,713,631
Ensembl chr 3:32,361,517...32,713,572 		JBrowse link
G OTUD7A OTU deubiquitinase 7A ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar NCBI chr 3:37,348,167...37,548,357
Ensembl chr 3:37,348,170...37,548,885 		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 chr 9:46,648,057...46,731,259
Ensembl chr 9:46,648,052...46,771,400 		JBrowse link
G RAP1GAP2 RAP1 GTPase activating protein 2 ISO ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr 9:46,815,587...47,015,038
Ensembl chr 9:46,784,098...47,011,298 		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 chr 3:35,837,582...35,842,925
Ensembl chr 3:35,837,468...35,862,877 		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 chr 3:35,842,792...35,862,944 JBrowse link
G TJP1 tight junction protein 1 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 3:38,997,122...39,076,617
Ensembl chr 3:38,997,076...39,241,574 		JBrowse link
G TUBGCP5 tubulin gamma complex component 5 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:31690835 NCBI chr 3:32,243,031...32,339,037
Ensembl chr 3:32,242,961...32,338,957 		JBrowse link
G UBE3A ubiquitin protein ligase E3A ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:35,347,034...35,442,329
Ensembl chr 3:35,347,064...35,440,256 		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 chr 3:36,852,082...37,164,930
Ensembl chr 3:36,852,543...36,978,399 		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 chr 3:38,013,744...38,053,096
Ensembl chr 3:38,013,739...38,052,202 		JBrowse link
G KLF13 KLF transcription factor 13 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835
G MIR211 microRNA mir-211 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr 3:37,882,660...37,882,759
Ensembl chr 3:37,882,660...37,882,759 		JBrowse link
G MTMR10 myotubularin related protein 10 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr 3:37,958,771...38,012,893
Ensembl chr 3:37,960,004...38,011,344 		JBrowse link
G OTUD7A OTU deubiquitinase 7A ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr 3:37,348,167...37,548,357
Ensembl chr 3:37,348,170...37,548,885 		JBrowse link
G TRPM1 transient receptor potential cation channel subfamily M member 1 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr 3:37,860,730...37,949,108
Ensembl chr 3:37,817,339...37,949,108 		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 chr30:38,509,233...38,512,782
Ensembl chr30:38,509,464...38,512,732 		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 chr30:38,202,435...38,208,451
Ensembl chr30:38,202,468...38,210,066 		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 chr30:38,465,486...38,498,365
Ensembl chr30:38,465,241...38,497,971 		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 chr30:38,431,236...38,432,107
Ensembl chr30:38,424,520...38,432,143 		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 chr30:38,218,086...38,230,745
Ensembl chr30:38,218,567...38,229,041 		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 chr30:38,213,429...38,218,132
Ensembl chr30:38,213,250...38,218,130 		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 chr30:38,314,598...38,364,369
Ensembl chr30:38,232,680...38,382,635 		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 chr30:38,231,844...38,306,665
Ensembl chr30:38,232,680...38,382,635 		JBrowse link
G SNUPN snurportin 1 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr30:38,401,016...38,422,885
Ensembl chr30:38,401,192...38,432,686 		JBrowse link
G SNX33 sorting nexin 33 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr30:38,441,311...38,453,477
Ensembl chr30:38,441,305...38,450,161 		JBrowse link
chromosome 15q26-qter deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif 17 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 3:40,613,902...40,939,616
Ensembl chr 3:40,613,759...40,939,615 		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 chr 3:40,130,904...40,168,686
Ensembl chr 3:40,132,726...40,168,664 		JBrowse link
G ASB7 ankyrin repeat and SOCS box containing 7 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 3:40,365,515...40,415,345
Ensembl chr 3:40,320,391...40,414,671 		JBrowse link
G CERS3 ceramide synthase 3 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 3:40,448,174...40,570,736
Ensembl chr 3:40,459,162...40,568,272 		JBrowse link
G CHSY1 chondroitin sulfate synthase 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 3:39,844,227...39,916,484
Ensembl chr 3:39,844,195...40,021,573 		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 chr 3:41,795,337...42,096,255
Ensembl chr 3:41,794,623...42,090,387 		JBrowse link
G LINS1 lines homolog 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 3:40,415,599...40,437,075
Ensembl chr 3:40,415,163...40,436,966 		JBrowse link
G LRRC28 leucine rich repeat containing 28 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 3:41,337,328...41,496,747
Ensembl chr 3:41,337,328...41,496,755 		JBrowse link
G LRRK1 leucine rich repeat kinase 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 3:40,003,299...40,122,326
Ensembl chr 3:40,004,557...40,122,320 		JBrowse link
G LYSMD4 LysM domain containing 4 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 3:40,983,350...40,989,611
Ensembl chr 3:40,982,907...40,988,434 		JBrowse link
G MEF2A myocyte enhancer factor 2A ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 3:41,012,103...41,177,588
Ensembl chr 3:41,015,713...41,179,448 		JBrowse link
G PGPEP1L pyroglutamyl-peptidase I like ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 3:42,101,055...42,150,367
Ensembl chr 3:42,098,609...42,146,623 		JBrowse link
G SYNM synemin ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 3:41,595,218...41,623,475
Ensembl chr 3:41,594,580...41,623,627 		JBrowse link
G TTC23 tetratricopeptide repeat domain 23 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 3:41,496,951...41,592,971
Ensembl chr 3:41,506,321...41,594,050 		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 NCBI chr 6:18,077,241...18,083,053 JBrowse link
G ASPHD1 aspartate beta-hydroxylase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:17,941,306...17,945,594
Ensembl chr 6:17,941,574...17,945,217 		JBrowse link
G ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 6:18,384,981...18,400,038
Ensembl chr 6:18,385,007...18,400,036 		JBrowse link
G ATXN2L ataxin 2 like ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 6:18,342,953...18,355,421
Ensembl chr 6:18,343,016...18,385,112 		JBrowse link
G BOLA2B bolA family member 2B ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:31690835 NCBI chr 6:18,170,106...18,171,012 JBrowse link
G C6H16orf54 chromosome 6 C16orf54 homolog ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:17,811,506...17,815,122
Ensembl chr 6:17,812,667...17,853,083 		JBrowse link
G C6H16orf92 chromosome 6 C16orf92 homolog ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:18,051,019...18,053,729
Ensembl chr 6:18,052,621...18,054,126 		JBrowse link
G CD19 CD19 molecule ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 6:18,419,092...18,425,524
Ensembl chr 6:18,418,241...18,425,400 		JBrowse link
G CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:17,910,141...17,914,573
Ensembl chr 6:17,910,192...17,914,653 		JBrowse link
G CORO1A coronin 1A ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:18,161,850...18,167,915
Ensembl chr 6:18,160,601...18,167,818 		JBrowse link
G DOC2A double C2 domain alpha ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:18,041,551...18,046,779
Ensembl chr 6:18,041,296...18,046,265 		JBrowse link
G GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:18,103,273...18,108,818
Ensembl chr 6:18,103,267...18,108,533 		JBrowse link
G HIRIP3 HIRA interacting protein 3 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:18,030,070...18,032,774
Ensembl chr 6:18,030,074...18,032,730 		JBrowse link
G INO80E INO80 complex subunit E ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:18,033,366...18,041,604
Ensembl chr 6:18,033,363...18,041,308 		JBrowse link
G KCTD13 potassium channel tetramerization domain containing 13 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:17,945,541...17,959,421
Ensembl chr 6:17,946,062...17,959,232 		JBrowse link
G KIF22 kinesin family member 22 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:17,853,190...17,865,386
Ensembl chr 6:17,853,149...17,865,386 		JBrowse link
G LAT linker for activation of T cells ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 6:18,458,985...18,462,463
Ensembl chr 6:18,459,061...18,462,694 		JBrowse link
G LOC102157295 atherin ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr 6:18,069,839...18,077,265 JBrowse link
G LOC610540 pulmonary surfactant-associated protein A-like ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr 4:29,430,139...29,434,640 JBrowse link
G MAPK3 mitogen-activated protein kinase 3 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:18,109,184...18,115,728
Ensembl chr 6:18,109,222...18,114,425 		JBrowse link
G MAZ MYC associated zinc finger protein ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:17,867,491...17,870,108
Ensembl chr 6:17,867,488...17,870,197 		JBrowse link
G MVP major vault protein ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:17,879,687...17,903,184
Ensembl chr 6:17,873,521...17,903,184 		JBrowse link
G NFATC2IP nuclear factor of activated T cells 2 interacting protein ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 6:18,433,421...18,444,148
Ensembl chr 6:18,432,809...18,443,922 		JBrowse link
G PAGR1 PAXIP1 associated glutamate rich protein 1 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:17,876,740...17,879,546 JBrowse link
G PPP4C protein phosphatase 4 catalytic subunit ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:18,085,048...18,092,861
Ensembl chr 6:18,085,116...18,092,854 		JBrowse link
G PRRT2 proline rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:17,872,670...17,877,502
Ensembl chr 6:17,873,521...17,903,184 		JBrowse link
G QPRT quinolinate phosphoribosyltransferase ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:17,778,664...17,794,110
Ensembl chr 6:17,779,439...17,794,035 		JBrowse link
G RABEP2 rabaptin, RAB GTPase binding effector protein 2 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 6:18,399,992...18,413,537
Ensembl chr 6:18,397,161...18,456,477 		JBrowse link
G SEZ6L2 seizure related 6 homolog like 2 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:17,920,413...17,938,382
Ensembl chr 6:17,921,311...17,945,738 		JBrowse link
G SH2B1 SH2B adaptor protein 1 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 6:18,370,881...18,380,965
Ensembl chr 6:18,371,832...18,380,962 		JBrowse link
G SLX1A SLX1 homolog A, structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:31690835 NCBI chr 6:18,171,190...18,174,577 JBrowse link
G SPN sialophorin ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:17,770,303...17,774,946 JBrowse link
G SPNS1 SPNS lysolipid transporter 1, lysophospholipid ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 6:18,450,019...18,458,456
Ensembl chr 6:18,412,219...18,459,438 		JBrowse link
G SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 ISO ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar NCBI chr 6:18,176,156...18,179,492
Ensembl chr 6:18,176,355...18,179,489 		JBrowse link
G TAOK2 TAO kinase 2 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:18,014,685...18,029,188
Ensembl chr 6:18,000,138...18,029,185 		JBrowse link
G TBX6 T-box transcription factor 6 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:18,093,201...18,098,592
Ensembl chr 6:18,093,189...18,097,636 		JBrowse link
G TLCD3B TLC domain containing 3B ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:18,053,841...18,062,755
Ensembl chr 6:18,054,632...18,055,914 		JBrowse link
G TMEM219 transmembrane protein 219 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:17,959,490...18,014,813
Ensembl chr 6:18,000,138...18,029,185 		JBrowse link
G TUFM Tu translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 6:18,357,223...18,360,929
Ensembl chr 6:18,357,244...18,361,557 		JBrowse link
G YPEL3 yippee like 3 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:18,098,761...18,102,062
Ensembl chr 6:18,098,788...18,102,068 		JBrowse link
G ZG16 zymogen granule protein 16 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 6:17,840,430...17,842,008
Ensembl chr 6:17,839,553...17,842,006 		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 chr 6:23,297,023...23,315,966
Ensembl chr 6:23,297,054...23,315,419 		JBrowse link
G EEF2K eukaryotic elongation factor 2 kinase ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr 6:23,368,296...23,433,853
Ensembl chr 6:23,371,546...23,433,929 		JBrowse link
G MOSMO modulator of smoothened ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr 6:23,544,759...23,607,810
Ensembl chr 6:23,542,527...23,607,801 		JBrowse link
G PDZD9 PDZ domain containing 9 ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr 6:23,614,793...23,638,539
Ensembl chr 6:23,614,912...23,626,991 		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 chr 6:23,334,495...23,357,898
Ensembl chr 6:23,329,228...23,358,486 		JBrowse link
G SDR42E2 short chain dehydrogenase/reductase family 42E, member 2 ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr 6:23,452,730...23,469,885 JBrowse link
G UQCRC2 ubiquinol-cytochrome c reductase core protein 2 ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr 6:23,627,782...23,653,625
Ensembl chr 6:23,627,831...23,653,563 		JBrowse link
G VWA3A von Willebrand factor A domain containing 3A ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr 6:23,473,609...23,533,434
Ensembl chr 6:23,473,810...23,532,776 		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 chr 5:81,789,915...81,792,725
Ensembl chr 5:81,789,997...81,792,639 		JBrowse link
G C5H16orf86 chromosome 5 C16orf86 homolog ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:81,781,829...81,783,754
Ensembl chr 5:81,781,832...81,783,620 		JBrowse link
G CARMIL2 capping protein regulator and myosin 1 linker 2 ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:81,792,683...81,804,274
Ensembl chr 5:81,792,155...81,804,152 		JBrowse link
G CTCF CCCTC-binding factor ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:81,808,512...81,863,811
Ensembl chr 5:81,809,393...81,858,655 		JBrowse link
G ENKD1 enkurin domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:81,783,887...81,787,244
Ensembl chr 5:81,784,109...81,787,243 		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 chr 5:81,738,653...81,776,853
Ensembl chr 5:81,766,864...81,776,206 		JBrowse link
G PARD6A par-6 family cell polarity regulator alpha ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:81,787,424...81,789,833
Ensembl chr 5:81,787,553...81,790,324 		JBrowse link
G RANBP10 RAN binding protein 10 ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:81,662,034...81,736,269
Ensembl chr 5:81,662,172...81,732,838 		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 Ensembl chr 9:9,381,737...9,565,976
Ensembl chr 9:9,381,737...9,565,976 		JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14961032 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109 		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 chr 9:40,794,772...40,809,022
Ensembl chr 9:40,795,297...40,808,737 		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 chr 9:36,773,313...36,878,752
Ensembl chr 9:36,773,312...36,878,745 		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 chr 9:36,904,204...37,188,096
Ensembl chr 9:36,905,293...37,187,892 		JBrowse link
G C9H17orf78 chromosome 9 C17orf78 homolog ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr 9:37,120,334...37,168,847
Ensembl chr 9:37,155,372...37,165,421 		JBrowse link
G CCL3 chemokine (C-C motif) ligand 3 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:24088041 PMID:26633545 NCBI chr 9:37,693,711...37,695,137
Ensembl chr 9:37,686,480...37,695,573 		JBrowse link
G CCL4 chemokine (C-C motif) ligand 4 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:24088041 PMID:26633545 NCBI chr 9:37,681,342...37,682,691
Ensembl chr 9:37,676,966...37,710,209 		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 chr 9:37,368,243...37,390,526 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 chr 9:36,465,449...36,473,625
Ensembl chr 9:36,465,444...36,473,414 		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 chr 9:37,253,305...37,277,320
Ensembl chr 9:37,276,084...37,276,680 		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 chr 9:36,430,194...36,463,248
Ensembl chr 9:36,442,652...36,463,200 		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 chr 9:37,437,992...37,493,200
Ensembl chr 9:37,438,583...37,492,993 		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 chr 9:36,760,890...36,768,345
Ensembl chr 9:36,761,826...36,768,164 		JBrowse link
G LOC480600 chemokine (C-C motif) ligand 3 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:24088041 PMID:26633545 NCBI chr 9:37,708,561...37,710,209
Ensembl chr 9:37,676,966...37,710,209 		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 chr 9:36,474,568...36,478,387
Ensembl chr 9:36,474,268...36,478,562 		JBrowse link
G MRPL45 mitochondrial ribosomal protein L45 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:24088041 PMID:26633545 NCBI chr 9:23,829,557...23,838,738 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 chr 9:36,383,777...36,429,730
Ensembl chr 9:36,349,191...36,428,091 		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 chr 9:36,419,807...36,424,596
Ensembl chr 9:36,421,216...36,424,218 		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 chr 9:37,280,620...37,365,477
Ensembl chr 9:37,280,645...37,366,116 		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 chr 9:37,188,193...37,241,605
Ensembl chr 9:37,188,249...37,241,512 		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 chr 9:36,378,226...36,383,906
Ensembl chr 9:36,378,211...36,383,966 		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 chr 7:77,749,029...77,787,466
Ensembl chr 7:77,737,808...77,787,472 		JBrowse link
G AKAIN1 A-kinase anchor inhibitor 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 7:71,552,660...71,636,663
Ensembl chr 7:71,553,561...71,602,673 		JBrowse link
G ANKRD12 ankyrin repeat domain 12 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 7:75,188,058...75,311,825
Ensembl chr 7:75,219,779...75,307,577 		JBrowse link
G APCDD1 APC down-regulated 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 7:76,336,502...76,368,695
Ensembl chr 7:76,336,547...76,367,267 		JBrowse link
G ARHGAP28 Rho GTPase activating protein 28 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 7:73,023,681...73,260,093
Ensembl chr 7:73,055,118...73,257,375 		JBrowse link
G CEP192 centrosomal protein 192 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 7:78,401,273...78,541,918
Ensembl chr 7:78,351,992...78,541,669 		JBrowse link
G CEP192 centrosomal protein 192 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 7:78,352,153...78,383,546
Ensembl chr 7:78,351,992...78,541,669 		JBrowse link
G CEP76 centrosomal protein 76 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 7:78,062,793...78,092,478
Ensembl chr 7:77,854,875...78,092,466 		JBrowse link
G CHMP1B charged multivesicular body protein 1B ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 7:77,500,378...77,503,092 JBrowse link
G CIDEA cell death inducing DFFA like effector a ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 7:77,685,383...77,703,320
Ensembl chr 7:77,684,863...77,702,934 		JBrowse link
G DLGAP1 DLG associated protein 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 7:70,082,563...70,949,116
Ensembl chr 7:70,081,885...70,406,213 		JBrowse link
G EMILIN2 elastin microfibril interfacer 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 7:69,521,430...69,580,963 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 chr 7:71,734,325...72,001,496
Ensembl chr 7:71,747,333...71,868,751 		JBrowse link
G FAM210A family with sequence similarity 210 member A ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 1:24,499,572...24,529,224
Ensembl chr 1:24,518,239...24,527,820 		JBrowse link
G GNAL G protein subunit alpha L ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 7:77,378,134...77,521,215
Ensembl chr 7:77,413,986...77,521,042 		JBrowse link
G IMPA2 inositol monophosphatase 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 7:77,604,620...77,648,416
Ensembl chr 7:77,597,888...77,648,218 		JBrowse link
G L3MBTL4 L3MBTL histone methyl-lysine binding protein 4 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 7:72,305,146...72,799,146
Ensembl chr 7:72,306,159...72,691,255 		JBrowse link
G LAMA1 laminin subunit alpha 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 7:73,309,383...73,438,543
Ensembl chr 7:73,309,388...73,448,151 		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 chr 1:24,541,702...24,927,435
Ensembl chr 1:24,541,811...24,925,464 		JBrowse link
G LOC607207 myosin regulatory light polypeptide 9 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 7:69,860,472...69,871,878 JBrowse link
G LPIN2 lipin 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 7:69,583,386...69,664,226
Ensembl chr 7:69,580,736...69,673,899 		JBrowse link
G LRRC30 leucine rich repeat containing 30 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 7:73,554,459...73,556,247
Ensembl chr 7:73,554,654...73,555,559 		JBrowse link
G MC2R melanocortin 2 receptor ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 1:24,351,219...24,390,071
Ensembl chr 1:24,388,280...24,389,170 		JBrowse link
G MC5R melanocortin 5 receptor ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 1:24,429,331...24,433,212 JBrowse link
G MPPE1 metallophosphoesterase 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 7:77,521,348...77,544,033
Ensembl chr 7:77,521,546...77,540,405 		JBrowse link
G MTCL1 microtubule crosslinking factor 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 7:74,840,271...74,967,849
Ensembl chr 7:74,840,032...74,967,305 		JBrowse link
G MYL12B myosin light chain 12B ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 7:69,877,727...69,895,196 JBrowse link
G MYOM1 myomesin 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 7:69,703,057...69,837,987
Ensembl chr 7:69,703,540...69,857,740 		JBrowse link
G NAPG NSF attachment protein gamma ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 7:76,403,561...76,424,994
Ensembl chr 7:76,403,595...76,423,170 		JBrowse link
G NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 7:75,150,293...75,184,084
Ensembl chr 7:75,150,415...75,184,067 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 7:76,477,628...76,918,660
Ensembl chr 7:76,478,928...76,919,723 		JBrowse link
G PPP4R1 protein phosphatase 4 regulatory subunit 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 7:75,524,483...75,582,850
Ensembl chr 7:75,525,249...75,583,553 		JBrowse link
G PRELID3A PRELI domain containing 3A ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 7:77,826,003...77,873,568
Ensembl chr 7:77,832,134...77,836,987 		JBrowse link
G PSMG2 proteasome assembly chaperone 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 7:78,092,877...78,112,831
Ensembl chr 7:78,092,876...78,112,702 		JBrowse link
G PTPN2 protein tyrosine phosphatase non-receptor type 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 7:78,160,564...78,252,382
Ensembl chr 7:78,160,589...78,252,719 		JBrowse link
G PTPRM protein tyrosine phosphatase receptor type M ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 7:74,005,682...74,597,498
Ensembl chr 7:73,815,186...74,609,116 		JBrowse link
G RAB12 RAB12, member RAS oncogene family ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 7:74,752,697...74,791,872 JBrowse link
G RAB31 RAB31, member RAS oncogene family ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 7:75,678,896...75,807,716
Ensembl chr 7:75,678,908...75,817,426 		JBrowse link
G RALBP1 ralA binding protein 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 7:75,461,220...75,511,860
Ensembl chr 7:75,461,222...75,510,229 		JBrowse link
G RNMT RNA guanine-7 methyltransferase ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 1:24,465,634...24,499,526
Ensembl chr 1:24,430,063...24,497,206 		JBrowse link
G SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 7:69,359,286...69,505,067
Ensembl chr 7:69,358,447...69,621,067 		JBrowse link
G SPIRE1 spire type actin nucleation factor 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 7:77,860,287...78,062,894
Ensembl chr 7:77,854,875...78,092,466 		JBrowse link
G TGIF1 TGFB induced factor homeobox 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 7:70,040,376...70,048,346
Ensembl chr 7:70,040,508...70,047,912 		JBrowse link
G TMEM200C transmembrane protein 200C ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835
G TUBB6 tubulin beta 6 class V ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 7:77,728,876...77,746,759
Ensembl chr 7:77,728,180...77,749,270 		JBrowse link
G TWSG1 twisted gastrulation BMP signaling modulator 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 7:75,337,347...75,397,485
Ensembl chr 7:75,335,235...75,398,325 		JBrowse link
G TXNDC2 thioredoxin domain containing 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 7:75,822,005...75,824,032
Ensembl chr 7:75,822,013...75,824,007 		JBrowse link
G VAPA VAMP associated protein A ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 7:75,844,927...75,891,811
Ensembl chr 7:75,845,000...75,889,076 		JBrowse link
G ZBTB14 zinc finger and BTB domain containing 14 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 7:71,680,692...71,687,651
Ensembl chr 7:71,682,578...71,687,703 		JBrowse link
chromosome 18q deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADNP2 ADNP homeobox 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:600,804...635,013
Ensembl chr 1:602,264...635,348 		JBrowse link
G ATP9B ATPase phospholipid transporting 9B (putative) ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:1,136,862...1,374,102
Ensembl chr 1:1,136,865...1,374,514 		JBrowse link
G BCL2 BCL2 apoptosis regulator ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658 		JBrowse link
G C1H18orf63 chromosome 1 C18orf63 homolog ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:5,028,255...5,062,610
Ensembl chr 1:5,030,825...5,061,846 		JBrowse link
G CBLN2 cerebellin 2 precursor ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:6,378,153...6,384,559
Ensembl chr 1:6,376,777...6,382,024 		JBrowse link
G CCDC102B coiled-coil domain containing 102B ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:9,202,852...9,341,543
Ensembl chr 1:9,112,077...9,341,746 		JBrowse link
G CD226 CD226 molecule ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:8,348,628...8,437,520
Ensembl chr 1:8,351,207...8,435,145 		JBrowse link
G CDH19 cadherin 19 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:11,074,216...11,168,816
Ensembl chr 1:11,074,305...11,165,626 		JBrowse link
G CDH20 cadherin 20 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:15,172,681...15,388,327
Ensembl chr 1:15,183,350...15,234,880 		JBrowse link
G CDH7 cadherin 7 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:11,699,505...11,824,489
Ensembl chr 1:11,706,673...11,824,578 		JBrowse link
G CNDP1 carnosine dipeptidase 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:4,875,790...4,912,148
Ensembl chr 1:4,876,794...4,911,976 		JBrowse link
G CNDP2 carnosine dipeptidase 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:4,914,739...4,931,700
Ensembl chr 1:4,914,737...4,929,449 		JBrowse link
G CTDP1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:886,973...945,994
Ensembl chr 1:762,020...946,142 		JBrowse link
G CYB5A cytochrome b5 type A (microsomal) ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:5,070,817...5,106,668
Ensembl chr 1:5,070,865...5,106,932 		JBrowse link
G DIPK1C divergent protein kinase domain 1C ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:4,954,115...4,980,277
Ensembl chr 1:4,959,886...4,978,431 		JBrowse link
G DOK6 docking protein 6 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:8,446,332...8,707,600
Ensembl chr 1:8,453,714...8,707,173 		JBrowse link
G DSEL dermatan sulfate epimerase like ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:10,344,468...10,366,936 JBrowse link
G FBXO15 F-box protein 15 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:5,182,224...5,231,520
Ensembl chr 1:5,182,244...5,231,424 		JBrowse link
G GALR1 galanin receptor 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:2,750,117...2,785,329
Ensembl chr 1:2,729,331...2,742,231
Ensembl chr 1:2,729,331...2,742,231 		JBrowse link
G HSBP1L1 heat shock factor binding protein 1 like 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:743,321...747,401
Ensembl chr 1:744,458...747,200 		JBrowse link
G KCNG2 potassium voltage-gated channel modifier subfamily G member 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:805,892...866,031 JBrowse link
G KDSR 3-ketodihydrosphingosine reductase ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:13,682,838...13,726,872
Ensembl chr 1:13,689,246...13,723,528 		JBrowse link
G LOC483954 serpin B4 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:13,471,412...13,472,089 JBrowse link
G MBP myelin basic protein ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:2,841,801...2,952,553
Ensembl chr 1:2,846,589...2,951,860 		JBrowse link
G MC4R melanocortin 4 receptor ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 NCBI chr 1:16,131,829...16,132,827
Ensembl chr 1:16,131,589...16,133,079 		JBrowse link
G NETO1 neuropilin and tolloid like 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:6,114,152...6,242,178
Ensembl chr 1:6,114,067...6,225,821 		JBrowse link
G NFATC1 nuclear factor of activated T cells 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:1,027,021...1,121,362
Ensembl chr 1:1,028,695...1,121,588 		JBrowse link
G PARD6G par-6 family cell polarity regulator gamma ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:478,310...567,728
Ensembl chr 1:497,071...565,905 		JBrowse link
G PHLPP1 PH domain and leucine rich repeat protein phosphatase 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:14,027,741...14,234,229
Ensembl chr 1:14,028,652...14,234,229 		JBrowse link
G PIGN phosphatidylinositol glycan anchor biosynthesis class N ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:14,684,026...14,791,221
Ensembl chr 1:14,685,694...14,805,691 		JBrowse link
G PTGR3 prostaglandin reductase 3 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:4,303,933...4,311,675
Ensembl chr 1:4,303,922...4,311,455 		JBrowse link
G RBFA ribosome binding factor A ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:692,870...722,681 JBrowse link
G RELCH RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:14,573,377...14,683,795
Ensembl chr 1:14,579,381...14,683,555 		JBrowse link
G RNF152 ring finger protein 152 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:14,914,508...15,001,843
Ensembl chr 1:14,985,769...14,986,380 		JBrowse link
G RTTN rotatin ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:8,180,831...8,326,947
Ensembl chr 1:8,180,888...8,323,346 		JBrowse link
G SALL3 spalt like transcription factor 3 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:1,413,991...1,421,516
Ensembl chr 1:1,416,390...1,435,326 		JBrowse link
G SERPINB10 serpin family B member 10 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:13,233,715...13,256,289
Ensembl chr 1:13,234,402...13,256,238 		JBrowse link
G SERPINB11 serpin family B member 11 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:13,395,127...13,486,974
Ensembl chr 1:13,410,079...13,487,008 		JBrowse link
G SERPINB12 serpin family B member 12 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:13,516,993...13,539,834
Ensembl chr 1:13,518,850...13,539,956 		JBrowse link
G SERPINB13 serpin family B member 13 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:13,492,998...13,505,716
Ensembl chr 1:13,493,301...13,505,001 		JBrowse link
G SERPINB2 serpin family B member 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:13,260,288...13,276,727
Ensembl chr 1:13,260,387...13,272,980 		JBrowse link
G SERPINB5 serpin family B member 5 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:13,566,982...13,638,839
Ensembl chr 1:13,568,376...13,638,781 		JBrowse link
G SERPINB7 serpin family B member 7 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:13,336,067...13,392,674
Ensembl chr 1:13,336,837...13,358,125 		JBrowse link
G SERPINB8 serpin family B member 8 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:13,213,506...13,223,489
Ensembl chr 1:13,200,602...13,222,943 		JBrowse link
G SLC66A2 solute carrier family 66 member 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:758,456...801,227
Ensembl chr 1:757,856...802,373 		JBrowse link
G SOCS6 suppressor of cytokine signaling 6 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:8,078,500...8,117,651
Ensembl chr 1:8,082,389...8,083,996 		JBrowse link
G TIMM21 translocase of inner mitochondrial membrane 21 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:5,175,702...5,182,096
Ensembl chr 1:5,175,714...5,181,883 		JBrowse link
G TMX3 thioredoxin related transmembrane protein 3 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:9,395,336...9,439,939
Ensembl chr 1:9,395,296...9,436,922 		JBrowse link
G TNFRSF11A TNF receptor superfamily member 11a ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:14,504,595...14,555,956
Ensembl chr 1:14,503,033...14,556,041 		JBrowse link
G TSHZ1 teashirt zinc finger homeobox 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:4,224,875...4,229,755
Ensembl chr 1:4,226,210...4,246,762 		JBrowse link
G TXNL4A thioredoxin like 4A ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:722,223...735,253
Ensembl chr 1:722,293...735,258 		JBrowse link
G VPS4B vacuolar protein sorting 4 homolog B ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:13,638,965...13,673,295
Ensembl chr 1:13,639,004...13,669,072 		JBrowse link
G ZCCHC2 zinc finger CCHC-type containing 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:14,335,727...14,393,157
Ensembl chr 1:14,337,065...14,393,158 		JBrowse link
G ZNF236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:2,959,113...3,062,349
Ensembl chr 1:2,961,498...3,061,984 		JBrowse link
G ZNF407 zinc finger protein 407 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:4,421,386...4,869,396
Ensembl chr 1:4,422,156...4,869,200 		JBrowse link
G ZNF516 zinc finger protein 516 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:3,275,255...3,400,761
Ensembl chr 1:3,274,993...3,492,201 		JBrowse link
chromosome 19q13.11 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UBA2 ubiquitin like modifier activating enzyme 2 ISO ClinVar Annotator: match by term: Chromosome 19q13.11 deletion syndrome, distal ClinVar PMID:25741868 NCBI chr 1:117,841,097...117,883,650
Ensembl chr 1:117,843,510...117,883,633 		JBrowse link
chromosome 1p36 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AADACL3 arylacetamide deacetylase like 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:83,737,052...83,744,067
Ensembl chr 2:83,737,052...83,743,874 		JBrowse link
G AADACL4 arylacetamide deacetylase like 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:83,765,013...83,783,271
Ensembl chr 2:83,765,680...83,783,168 		JBrowse link
G ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:56,466,833...56,482,023
Ensembl chr 5:56,468,164...56,481,913 		JBrowse link
G ACOT7 acyl-CoA thioesterase 7 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:60,153,616...60,239,254
Ensembl chr 5:60,153,616...60,239,239 		JBrowse link
G ACTL8 actin like 8 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:80,560,307...80,624,865
Ensembl chr 2:80,560,311...80,564,127 		JBrowse link
G ACTRT2 actin related protein T2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:57,659,055...57,660,479
Ensembl chr 5:57,659,262...57,660,395 		JBrowse link
G AGMAT agmatinase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:81,980,959...81,990,377
Ensembl chr 2:81,981,376...81,989,916 		JBrowse link
G AGRN agrin ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:56,239,621...56,273,679
Ensembl chr 5:56,239,701...56,272,745 		JBrowse link
G AGTRAP angiotensin II receptor associated protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:84,489,269...84,501,732
Ensembl chr 2:84,490,638...84,501,919 		JBrowse link
G AJAP1 adherens junctions associated protein 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:58,907,970...59,023,115
Ensembl chr 5:58,907,678...59,015,062 		JBrowse link
G AKR7A2 aldo-keto reductase family 7 member A2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:79,334,179...79,343,880
Ensembl chr 2:79,334,205...79,343,007 		JBrowse link
G ALDH4A1 aldehyde dehydrogenase 4 family member A1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:79,688,078...79,712,340
Ensembl chr 2:79,688,086...79,710,540 		JBrowse link
G ANGPTL7 angiopoietin like 7 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:84,876,881...84,883,582
Ensembl chr 2:84,877,682...84,883,160 		JBrowse link
G ANKRD65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:56,564,686...56,568,194
Ensembl chr 5:56,565,514...56,567,376 		JBrowse link
G ARHGEF10L Rho guanine nucleotide exchange factor 10 like ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:80,666,992...80,827,032
Ensembl chr 2:80,642,298...80,808,567 		JBrowse link
G ARHGEF16 Rho guanine nucleotide exchange factor 16 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:58,031,246...58,051,936
Ensembl chr 5:58,030,459...58,051,936 		JBrowse link
G ARHGEF19 Rho guanine nucleotide exchange factor 19 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:81,484,068...81,499,961
Ensembl chr 2:81,486,146...81,499,584 		JBrowse link
G ATAD3A ATPase family AAA domain containing 3A ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:56,587,385...56,613,475
Ensembl chr 5:56,587,428...56,612,746 		JBrowse link
G ATP13A2 ATPase cation transporting 13A2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:81,196,355...81,215,736
Ensembl chr 2:81,196,463...81,215,689 		JBrowse link
G AURKAIP1 aurora kinase A interacting protein 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:56,539,987...56,541,578
Ensembl chr 5:56,539,991...56,541,388 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:56,421,687...56,423,120
Ensembl chr 5:56,405,372...56,422,771 		JBrowse link
G C1QTNF12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:56,433,555...56,438,419
Ensembl chr 5:56,433,552...56,438,339 		JBrowse link
G C2H1orf167 chromosome 2 C1orf167 homolog ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:84,457,743...84,477,328 JBrowse link
G C5H1orf159 chromosome 5 C1orf159 homolog ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:56,296,633...56,330,358
Ensembl chr 5:56,297,635...56,307,616 		JBrowse link
G C5H1orf174 chromosome 5 C1orf174 homolog ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:58,358,540...58,366,356
Ensembl chr 5:58,359,025...58,366,243 		JBrowse link
G CA6 carbonic anhydrase 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:62,358,521...62,379,901
Ensembl chr 5:62,358,403...62,379,897 		JBrowse link
G CALML6 calmodulin like 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:56,901,401...56,904,422
Ensembl chr 5:56,901,715...56,904,424 		JBrowse link
G CAMTA1 calmodulin binding transcription activator 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:60,566,136...61,429,092
Ensembl chr 5:60,580,334...61,426,251 		JBrowse link
G CAPZB capping actin protein of muscle Z-line subunit beta ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:79,182,668...79,311,529
Ensembl chr 2:79,181,851...79,311,518 		JBrowse link
G CASP9 caspase 9 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:82,033,759...82,076,710
Ensembl chr 2:82,031,563...82,090,484 		JBrowse link
G CASZ1 castor zinc finger 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:85,194,640...85,218,068
Ensembl chr 2:85,176,161...85,232,920 		JBrowse link
G CCDC27 coiled-coil domain containing 27 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:58,266,091...58,280,997
Ensembl chr 5:58,269,308...58,279,829 		JBrowse link
G CCNL2 cyclin L2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:56,542,358...56,550,701
Ensembl chr 5:56,542,566...56,550,691 		JBrowse link
G CDK11 cyclin dependent kinase 11 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:56,698,267...56,714,075 JBrowse link
G CEP104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:58,301,767...58,339,920
Ensembl chr 5:58,305,589...58,335,438 		JBrowse link
G CFAP107 cilia and flagella associated protein 107 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:83,713,652...83,727,022
Ensembl chr 2:83,713,686...83,726,788 		JBrowse link
G CFAP74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:56,909,092...56,970,980
Ensembl chr 5:56,909,486...56,961,903 		JBrowse link
G CHD5 chromodomain helicase DNA binding protein 5 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:60,022,451...60,080,663
Ensembl chr 5:60,025,602...60,081,148 		JBrowse link
G CLCN6 chloride voltage-gated channel 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:84,410,740...84,443,874
Ensembl chr 2:84,413,612...84,445,033 		JBrowse link
G CLCNK chloride voltage-gated channel K ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:81,612,382...81,627,742 JBrowse link
G CPLANE2 ciliogenesis and planar polarity effector complex subunit 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:81,468,095...81,473,646
Ensembl chr 2:81,469,802...81,473,947 		JBrowse link
G CPTP ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:56,498,163...56,501,918
Ensembl chr 5:56,498,207...56,500,845 		JBrowse link
G CROCC ciliary rootlet coiled-coil, rootletin ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:81,224,063...81,263,718
Ensembl chr 2:81,224,352...81,263,550 		JBrowse link
G DDI2 DNA damage inducible 1 homolog 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:81,915,613...81,957,803 JBrowse link
G DFFA DNA fragmentation factor subunit alpha ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:85,364,819...85,372,473
Ensembl chr 2:85,364,851...85,373,772 		JBrowse link
G DFFB DNA fragmentation factor subunit beta ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:58,340,183...58,355,353
Ensembl chr 5:58,339,634...58,354,326 		JBrowse link
G DHRS3 dehydrogenase/reductase 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:83,826,361...83,865,412
Ensembl chr 2:83,826,374...83,865,426 		JBrowse link
G DISP3 dispatched RND transporter family member 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:84,637,964...84,676,895
Ensembl chr 2:84,648,859...84,711,199 		JBrowse link
G DNAJC11 DnaJ heat shock protein family (Hsp40) member C11 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:60,450,389...60,525,852
Ensembl chr 5:60,436,516...60,525,780 		JBrowse link
G DNAJC16 DnaJ heat shock protein family (Hsp40) member C16 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:81,990,339...82,031,348
Ensembl chr 2:81,993,257...82,031,306 		JBrowse link
G DRAXIN dorsal inhibitory axon guidance protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:84,515,881...84,525,797
Ensembl chr 2:84,515,811...84,526,387 		JBrowse link
G DVL1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:56,507,803...56,519,382
Ensembl chr 5:56,507,739...56,519,491 		JBrowse link
G EFHD2 EF-hand domain family member D2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:82,086,761...82,090,680
Ensembl chr 2:82,088,244...82,091,033 		JBrowse link
G EMC1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:79,367,154...79,393,096
Ensembl chr 2:79,367,185...79,392,314 		JBrowse link
G ENO1 enolase 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:62,300,805...62,314,508
Ensembl chr 5:62,300,808...62,304,093 		JBrowse link
G EPHA2 EPH receptor A2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:81,534,130...81,561,722
Ensembl chr 2:81,534,125...81,561,725 		JBrowse link
G ERRFI1 ERBB receptor feedback inhibitor 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:61,621,964...61,636,152
Ensembl chr 5:61,622,550...61,636,148 		JBrowse link
G ESPN espin ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:60,285,185...60,316,261
Ensembl chr 5:60,285,312...60,315,676 		JBrowse link
G EXOSC10 exosome component 10 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:84,942,801...84,964,129
Ensembl chr 2:84,942,777...84,964,130 		JBrowse link
G FAAP20 FA core complex associated protein 20 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:57,114,784...57,122,854 JBrowse link
G FAM131C family with sequence similarity 131 member C ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:81,595,383...81,611,739
Ensembl chr 2:81,595,276...81,611,112 		JBrowse link
G FBLIM1 filamin binding LIM protein 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:81,820,129...81,837,617
Ensembl chr 2:81,821,291...81,838,306 		JBrowse link
G FBXO2 F-box protein 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:84,563,256...84,568,507
Ensembl chr 2:84,556,547...84,568,491 		JBrowse link
G FBXO42 F-box protein 42 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:81,358,204...81,460,603
Ensembl chr 2:81,358,212...81,456,916 		JBrowse link
G FBXO44 F-box protein 44 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:84,557,468...84,562,578 JBrowse link
G FBXO6 F-box protein 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:84,549,519...84,554,176
Ensembl chr 2:84,549,560...84,580,756 		JBrowse link
G FHAD1 forkhead associated phosphopeptide binding domain 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:82,114,228...82,232,464
Ensembl chr 2:82,114,227...82,239,533 		JBrowse link
G FNDC10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:56,660,721...56,662,696 JBrowse link
G GABRD gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:56,984,786...56,994,790
Ensembl chr 5:56,984,913...56,994,358 		JBrowse link
G GNB1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:56,777,854...56,879,619
Ensembl chr 5:56,779,354...56,817,295 		JBrowse link
G GPR153 G protein-coupled receptor 153 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:60,119,793...60,128,531
Ensembl chr 5:60,123,054...60,149,027 		JBrowse link
G GPR153 G protein-coupled receptor 153 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:60,138,659...60,148,989
Ensembl chr 5:60,123,054...60,149,027 		JBrowse link
G GPR157 G protein-coupled receptor 157 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:62,453,338...62,471,614
Ensembl chr 5:62,454,921...62,508,970 		JBrowse link
G H6PD hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:62,548,136...62,577,346
Ensembl chr 5:62,548,221...62,608,964 		JBrowse link
G HES2 hes family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:60,275,645...60,279,327
Ensembl chr 5:60,278,043...60,279,181 		JBrowse link
G HES3 hes family bHLH transcription factor 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:60,134,351...60,136,924
Ensembl chr 5:60,135,918...60,136,924 		JBrowse link
G HES4 hes family bHLH transcription factor 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:56,221,509...56,226,938
Ensembl chr 5:56,225,497...56,226,772 		JBrowse link
G HES5 hes family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:57,387,961...57,389,412
Ensembl chr 5:57,388,674...57,389,388 		JBrowse link
G HSPB7 heat shock protein family B (small) member 7 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:81,628,051...81,631,939
Ensembl chr 2:81,619,999...81,630,483 		JBrowse link
G HTR6 5-hydroxytryptamine receptor 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:79,022,790...79,033,975
Ensembl chr 2:79,022,775...79,033,975 		JBrowse link
G IFFO2 intermediate filament family orphan 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:79,636,428...79,685,207
Ensembl chr 2:79,636,302...79,680,696 		JBrowse link
G IGSF21 immunoglobin superfamily member 21 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:80,114,962...80,355,204
Ensembl chr 2:80,114,963...80,355,486 		JBrowse link
G INTS11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:56,485,690...56,498,074
Ensembl chr 5:56,485,948...56,498,017 		JBrowse link
G ISG15 ISG15 ubiquitin like modifier ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:56,230,879...56,237,354
Ensembl chr 5:56,236,318...56,404,695 		JBrowse link
G KAZN kazrin, periplakin interacting protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:82,336,553...82,490,834 JBrowse link
G KCNAB2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:59,936,432...60,021,945
Ensembl chr 5:59,936,528...60,021,957 		JBrowse link
G KIAA2013 KIAA2013 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:84,349,640...84,355,645
Ensembl chr 2:84,349,330...84,355,645 		JBrowse link
G KIF1B kinesin family member 1B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:63,367,294...63,516,388
Ensembl chr 5:63,376,820...63,513,476 		JBrowse link
G KLHDC7A kelch domain containing 7A ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:80,041,045...80,048,296
Ensembl chr 2:80,044,570...80,046,918 		JBrowse link
G KLHL17 kelch like family member 17 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:56,186,077...56,193,671
Ensembl chr 5:56,187,922...56,192,983 		JBrowse link
G KLHL21 kelch like family member 21 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:60,415,493...60,427,301
Ensembl chr 5:60,413,552...60,427,609 		JBrowse link
G LOC119880043 U1 spliceosomal RNA ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar
G LOC474964 heterogeneous nuclear ribonucleoprotein C ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr12:33,657,211...33,658,414 JBrowse link
G LOC478220 chymotrypsin-C ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:82,075,135...82,081,091 JBrowse link
G LOC479600 beta-catenin-interacting protein 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:62,937,154...63,093,083
Ensembl chr 5:62,938,511...63,093,275 		JBrowse link
G LOC489640 solute carrier family 2, facilitated glucose transporter member 5 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:62,417,234...62,444,903
Ensembl chr 5:62,417,591...62,442,922 		JBrowse link
G LRRC38 leucine rich repeat containing 38 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:83,622,976...83,653,878
Ensembl chr 2:83,622,968...83,653,703 		JBrowse link
G LRRC47 leucine rich repeat containing 47 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:58,286,909...58,297,961
Ensembl chr 5:58,288,392...58,297,996 		JBrowse link
G LZIC leucine zipper and CTNNBIP1 domain containing ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:63,110,854...63,122,488
Ensembl chr 5:63,113,191...63,122,750 		JBrowse link
G MAD2L2 mitotic arrest deficient 2 like 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:84,539,724...84,549,402
Ensembl chr 2:84,545,226...84,549,356 		JBrowse link
G MASP2 MBL associated serine protease 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:84,976,366...84,987,376
Ensembl chr 2:84,976,456...84,989,797 		JBrowse link
G MEGF6 multiple EGF like domains 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:58,058,833...58,145,855
Ensembl chr 5:58,059,031...58,146,193 		JBrowse link
G MFAP2 microfibril associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:81,217,197...81,223,726
Ensembl chr 2:81,220,431...81,224,243 		JBrowse link
G MFN2 mitofusin 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:84,284,719...84,310,715
Ensembl chr 2:84,284,719...84,308,225 		JBrowse link
G MIB2 MIB E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:56,680,526...56,693,551
Ensembl chr 5:56,581,550...56,693,544 		JBrowse link
G MIIP migration and invasion inhibitory protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:84,269,126...84,275,214
Ensembl chr 2:84,269,267...84,274,787 		JBrowse link
G MIR200A microRNA mir-200a ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:56,369,063...56,369,152
Ensembl chr 5:56,369,061...56,369,151 		JBrowse link
G MIR200B microRNA mir-200b ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:56,368,400...56,368,479
Ensembl chr 5:56,368,400...56,368,479 		JBrowse link
G MIR34A microRNA mir-34a ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:62,485,832...62,485,897
Ensembl chr 5:62,485,832...62,485,897 		JBrowse link
G MMEL1 membrane metalloendopeptidase like 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:57,434,880...57,467,973
Ensembl chr 5:57,434,886...57,465,911 		JBrowse link
G MMP23 matrix metallopeptidase 23 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:56,693,751...56,697,284
Ensembl chr 5:56,694,966...56,697,284 		JBrowse link
G MORN1 MORN repeat containing 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:57,227,265...57,275,292
Ensembl chr 5:57,227,315...57,277,669 		JBrowse link
G MRPL20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:56,553,326...56,558,182
Ensembl chr 5:56,553,331...56,558,136 		JBrowse link
G MRTO4 MRT4 homolog, ribosome maturation factor ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:79,360,897...79,367,038
Ensembl chr 2:79,360,970...79,366,935 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818 		JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:84,818,893...84,939,283
Ensembl chr 2:84,787,708...84,939,114 		JBrowse link
G MXRA8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:56,522,283...56,526,750
Ensembl chr 5:56,522,470...56,526,668 		JBrowse link
G NADK NAD kinase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:56,743,920...56,774,578
Ensembl chr 5:56,745,869...56,774,529 		JBrowse link
G NBL1 NBL1, DAN family BMP antagonist ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:79,040,206...79,102,792
Ensembl chr 2:79,041,105...79,102,820 		JBrowse link
G NBL1 NBL1, DAN family BMP antagonist ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:79,068,865...79,102,818
Ensembl chr 2:79,041,105...79,102,820 		JBrowse link
G NECAP2 NECAP endocytosis associated 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:81,275,294...81,289,405
Ensembl chr 2:81,276,223...81,289,344 		JBrowse link
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:63,122,379...63,152,078
Ensembl chr 5:63,122,498...63,151,661 		JBrowse link
G NOC2L NOC2 like nucleolar associated transcriptional repressor ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:56,172,399...56,185,993
Ensembl chr 5:56,172,446...56,185,932 		JBrowse link
G NOL9 nucleolar protein 9 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:60,372,573...60,395,805
Ensembl chr 5:60,375,361...60,396,174 		JBrowse link
G NPHP4 nephrocystin 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:59,819,236...59,936,220
Ensembl chr 5:59,814,274...59,929,386 		JBrowse link
G NPPA natriuretic peptide A ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:84,406,317...84,408,115
Ensembl chr 2:84,396,073...84,408,385 		JBrowse link
G NPPB natriuretic peptide B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:84,395,844...84,397,473 JBrowse link
G OTUD3 OTU deubiquitinase 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:78,843,627...78,875,215
Ensembl chr 2:78,847,177...78,875,121 		JBrowse link
G PADI1 peptidyl arginine deiminase 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:80,997,563...81,036,942
Ensembl chr 2:80,996,021...81,036,942 		JBrowse link
G PADI2 peptidyl arginine deiminase 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:81,116,031...81,147,889
Ensembl chr 2:81,116,140...81,145,043 		JBrowse link
G PADI3 peptidyl arginine deiminase 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:80,966,034...80,993,937
Ensembl chr 2:80,905,391...80,993,973 		JBrowse link
G PADI4 peptidyl arginine deiminase 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:80,912,814...80,942,767
Ensembl chr 2:80,905,391...80,993,973 		JBrowse link
G PADI6 peptidyl arginine deiminase 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:80,888,961...80,907,780
Ensembl chr 2:80,888,961...80,907,780 		JBrowse link
G PANK4 pantothenate kinase 4 (inactive) ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:57,370,624...57,386,095
Ensembl chr 5:57,370,946...57,386,089 		JBrowse link
G PARK7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:61,576,219...61,592,325
Ensembl chr 5:61,576,069...61,592,303 		JBrowse link
G PAX7 paired box 7 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:79,813,835...79,952,490
Ensembl chr 2:79,815,748...79,915,003 		JBrowse link
G PDPN podoplanin ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:83,552,735...83,581,375
Ensembl chr 2:83,552,830...83,581,375 		JBrowse link
G PER3 period circadian regulator 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:61,445,580...61,499,393
Ensembl chr 5:61,445,461...61,498,499 		JBrowse link
G PERM1 PPARGC1 and ESRR induced regulator, muscle 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:56,202,318...56,207,617
Ensembl chr 5:56,202,939...56,204,453 		JBrowse link
G PEX10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:57,289,530...57,291,864
Ensembl chr 5:57,289,326...57,291,802 		JBrowse link
G PEX14 peroxisomal biogenesis factor 14 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:85,224,376...85,362,684
Ensembl chr 2:85,224,365...85,389,069 		JBrowse link
G PEX14 peroxisomal biogenesis factor 14 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:85,379,378...85,389,175 JBrowse link
G PGD phosphogluconate dehydrogenase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:85,393,526...85,408,714
Ensembl chr 2:85,393,819...85,408,272 		JBrowse link
G PHF13 PHD finger protein 13 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:60,434,218...60,441,930
Ensembl chr 5:60,433,328...60,439,672 		JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:62,884,596...62,936,882
Ensembl chr 5:62,909,009...62,935,971 		JBrowse link
G PLA2G2C phospholipase A2 group IIC ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:78,609,852...78,700,940 JBrowse link
G PLA2G2D phospholipase A2 group IID ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:78,739,826...78,745,839
Ensembl chr 2:78,739,769...78,745,920 		JBrowse link
G PLA2G2E phospholipase A2 group IIE ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:78,834,820...78,838,058
Ensembl chr 2:78,831,309...78,841,821 		JBrowse link
G PLA2G2F phospholipase A2 group IIF ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:78,714,251...78,724,257
Ensembl chr 2:78,716,228...78,723,984 		JBrowse link
G PLA2G5 phospholipase A2 group V ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:78,762,851...78,781,642
Ensembl chr 2:78,762,852...78,781,983 		JBrowse link
G PLCH2 phospholipase C eta 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:57,303,160...57,368,568
Ensembl chr 5:57,302,996...57,371,468 		JBrowse link
G PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:60,321,453...60,347,393
Ensembl chr 5:60,321,465...60,348,088 		JBrowse link
G PLEKHM2 pleckstrin homology and RUN domain containing M2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:81,864,958...81,902,682
Ensembl chr 2:81,865,640...81,880,363 		JBrowse link
G PLEKHN1 pleckstrin homology domain containing N1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:56,193,824...56,202,340
Ensembl chr 5:56,194,583...56,202,293 		JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:84,320,529...84,343,562
Ensembl chr 2:84,320,529...84,343,562 		JBrowse link
G PRDM16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:57,805,951...58,018,817
Ensembl chr 5:57,730,370...58,017,976 		JBrowse link
G PRDM2 PR/SET domain 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:83,381,021...83,429,640
Ensembl chr 2:83,382,552...83,465,687 		JBrowse link
G PRKCZ protein kinase C zeta ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:57,012,020...57,113,346
Ensembl chr 5:57,012,070...57,112,664 		JBrowse link
G PRXL2B peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:57,429,973...57,434,371
Ensembl chr 5:57,429,212...57,434,210 		JBrowse link
G PUSL1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:56,482,802...56,485,778
Ensembl chr 5:56,482,363...56,485,783 		JBrowse link
G RBP7 retinol binding protein 7 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:63,163,201...63,180,338
Ensembl chr 5:63,162,523...63,180,331 		JBrowse link
G RCC2 regulator of chromosome condensation 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:80,865,091...80,887,819
Ensembl chr 2:80,869,369...80,885,928 		JBrowse link
G RER1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:57,278,349...57,288,564
Ensembl chr 5:57,278,371...57,285,870 		JBrowse link
G RERE arginine-glutamic acid dipeptide repeats ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:61,868,288...62,249,009
Ensembl chr 5:61,868,685...62,215,973 		JBrowse link
G RNF186 ring finger protein 186 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 2:78,915,131...78,916,909
Ensembl chr 2:78,915,339...78,916,037 		JBrowse link
G RNF207 ring finger protein 207 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:60,105,200...60,119,902
Ensembl chr 5:60,106,297...60,118,670 		JBrowse link
G RNF223 ring finger protein 223 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:56,290,548...56,293,473 JBrowse link
G RPL22 ribosomal protein L22 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 5:60,089,862...60,100,963
Ensembl chr 5:60,091,345...60,100,846 		JBrowse link
G SAMD11 sterile alpha motif domain containing 11 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:56,119,207...56,175,267
Ensembl chr 5:56,151,171...56,172,055 		JBrowse link
G SCNN1D sodium channel epithelial 1 subunit delta ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:56,455,677...56,466,035
Ensembl chr 5:56,461,939...56,465,595 		JBrowse link
G SDF4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:56,407,506...56,421,515
Ensembl chr 5:56,407,807...56,421,430 		<