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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
G ASPHD1 aspartate beta-hydroxylase domain containing 1 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,268,390...30,273,581 JBrowse link
G ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 Ensembl chr16:29,265,516...29,290,807
Ensembl chr16:29,265,516...29,290,807 		JBrowse link
G ATXN2L ataxin 2 like ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 Ensembl chr16:29,209,115...29,226,239 JBrowse link
G BOLA2B bolA family member 2B ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:31690835
G C16H16orf54 chromosome 16 C16orf54 homolog ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,117,052...30,117,726 JBrowse link
G C16H16orf92 chromosome 16 C16orf92 homolog ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,398,743...30,399,615 JBrowse link
G CD19 CD19 molecule ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 Ensembl chr16:29,320,734...29,327,481 JBrowse link
G CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,227,772...30,233,145 JBrowse link
G CORO1A coronin 1A ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,550,383...30,556,196 JBrowse link
G DOC2A double C2 domain alpha ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,378,922...30,384,142 JBrowse link
G GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,479,684...30,488,868 JBrowse link
G HIRIP3 HIRA interacting protein 3 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,365,725...30,369,486 JBrowse link
G INO80E INO80 complex subunit E ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,369,610...30,379,198 JBrowse link
G KCTD13 potassium channel tetramerization domain containing 13 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835
G KIF22 kinesin family member 22 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,161,702...30,177,170 JBrowse link
G LAT linker for activation of T cells ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909
G LOC100995352 keratin-associated protein 10-2 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868
G LOC103783265 pulmonary surfactant-associated protein A1 ISO ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 NCBI chr10:76,571,312...76,575,820 JBrowse link
G MAPK3 mitogen-activated protein kinase 3 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,489,362...30,498,017 JBrowse link
G MAZ MYC associated zinc finger protein ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,049,806...30,070,469 JBrowse link
G MVP major vault protein ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,190,090...30,219,070 JBrowse link
G MVP-DT MVP divergent transcript ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868
G NFATC2IP nuclear factor of activated T cells 2 interacting protein ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909
G PAGR1 PAXIP1 associated glutamate rich protein 1 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,186,326...30,190,654 JBrowse link
G PPP4C protein phosphatase 4 catalytic subunit ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,450,467...30,464,446 JBrowse link
G PRRT2 proline rich transmembrane protein 2 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,183,352...30,187,862 JBrowse link
G QPRT quinolinate phosphoribosyltransferase ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,049,806...30,070,469 JBrowse link
G RABEP2 rabaptin, RAB GTPase binding effector protein 2 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 Ensembl chr16:29,289,949...29,314,177 JBrowse link
G SEZ6L2 seizure related 6 homolog like 2 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,240,276...30,267,689 JBrowse link
G SH2B1 SH2B adaptor protein 1 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 Ensembl chr16:29,249,597...29,263,334 JBrowse link
G SLX1A SLX1 homolog A, structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:31690835
G SPN sialophorin ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,035,243...30,036,445 JBrowse link
G SPNS1 SPNS lysolipid transporter 1, lysophospholipid ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909
G SULT1A3 sulfotransferase family 1A member 3 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:31690835
G TAOK2 TAO kinase 2 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,347,229...30,366,743 JBrowse link
G TBX6 T-box transcription factor 6 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,460,305...30,467,070 JBrowse link
G TLCD3B TLC domain containing 3B ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,399,815...30,406,663 JBrowse link
G TMEM219 transmembrane protein 219 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,327,890...30,346,316 JBrowse link
G TUFM Tu translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 Ensembl chr16:29,227,852...29,233,513 JBrowse link
G YPEL3 yippee like 3 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,467,490...30,471,256 JBrowse link
G ZG16 zymogen granule protein 16 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,149,307...30,151,579 JBrowse link
16Q24.3 Microdeletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACSF3 acyl-CoA synthetase family member 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:69,842,709...69,907,075
Ensembl chr16:89,467,997...89,523,825 		JBrowse link
G ANKRD11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:69,994,926...70,242,659
Ensembl chr16:89,633,849...89,683,311 		JBrowse link
G APRT adenine phosphoribosyltransferase ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:69,522,628...69,525,138
Ensembl chr16:89,179,020...89,181,504 		JBrowse link
G BANP BTG3 associated nuclear protein ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:68,626,638...68,753,293 JBrowse link
G C16H16orf95 chromosome 16 C16orf95 homolog ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:67,973,069...67,987,773
Ensembl chr16:87,298,076...87,312,629 		JBrowse link
G CA5A carbonic anhydrase 5A ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:68,564,400...68,618,614 JBrowse link
G CBFA2T3 CBFA2/RUNX1 partner transcriptional co-repressor 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:69,592,293...69,662,321
Ensembl chr16:89,246,545...89,347,435 		JBrowse link
G CDH15 cadherin 15 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar Ensembl chr16:89,543,888...89,562,843 JBrowse link
G CDT1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:69,516,728...69,522,419
Ensembl chr16:89,174,071...89,177,823 		JBrowse link
G CPNE7 copine 7 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:70,327,952...70,349,898
Ensembl chr16:89,936,172...89,955,115 		JBrowse link
G CTU2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:69,419,811...69,428,500
Ensembl chr16:89,079,132...89,088,231 		JBrowse link
G FBXO31 F-box protein 31 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:67,997,481...68,053,081
Ensembl chr16:87,322,364...87,377,104 		JBrowse link
G GALNS galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:69,557,956...69,571,421
Ensembl chr16:89,183,950...89,217,036 		JBrowse link
G IL17C interleukin 17C ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:69,347,233...69,353,562
Ensembl chr16:89,011,688...89,013,678 		JBrowse link
G JPH3 junctophilin 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:68,276,459...68,379,909
Ensembl chr16:87,596,814...87,700,235 		JBrowse link
G KLHDC4 kelch domain containing 4 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:68,384,552...68,448,167
Ensembl chr16:87,702,744...87,764,605 		JBrowse link
G LOC100986914 cytochrome b-245 light chain ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:69,356,396...69,364,225
Ensembl chr16:89,016,349...89,024,719 		JBrowse link
G MAP1LC3B microtubule associated protein 1 light chain 3 beta ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:68,063,869...68,076,772 JBrowse link
G MVD mevalonate diphosphate decarboxylase ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:69,365,070...69,376,149
Ensembl chr16:89,025,572...89,036,964 		JBrowse link
G PABPN1L PABPN1 like, cytoplasmic ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:69,579,421...69,583,803
Ensembl chr16:89,234,156...89,237,595 		JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 (Er blood group) ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:69,428,461...69,498,454
Ensembl chr16:89,088,323...89,125,068 		JBrowse link
G RNF166 ring finger protein 166 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:69,409,777...69,419,761 JBrowse link
G RPL13 ribosomal protein L13 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:70,312,241...70,314,956 JBrowse link
G SLC22A31 solute carrier family 22 member 31 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar
G SLC7A5 solute carrier family 7 member 5 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:68,512,407...68,552,763 JBrowse link
G SNAI3 snail family transcriptional repressor 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:69,390,929...69,400,971
Ensembl chr16:89,051,479...89,059,704 		JBrowse link
G TRAPPC2L trafficking protein particle complex subunit 2L ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:69,571,438...69,575,556
Ensembl chr16:89,226,220...89,231,854 		JBrowse link
G ZC3H18 zinc finger CCCH-type containing 18 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:69,282,652...69,345,077
Ensembl chr16:88,944,517...89,005,199 		JBrowse link
G ZCCHC14 zinc finger CCHC-type containing 14 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:68,078,237...68,165,406
Ensembl chr16:87,401,184...87,486,124 		JBrowse link
G ZFPM1 zinc finger protein, FOG family member 1 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:69,164,299...69,246,136 JBrowse link
G ZNF469 zinc finger protein 469 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr16:68,777,496...69,151,995
Ensembl chr16:88,803,202...88,815,390 		JBrowse link
G ZNF778 zinc finger protein 778 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar
1q24 Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABL2 ABL proto-oncogene 2, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:154,586,423...154,711,621
Ensembl chr 1:158,280,994...158,313,915 		JBrowse link
G ACBD6 acyl-CoA binding domain containing 6 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:155,774,799...155,988,767
Ensembl chr 1:159,448,023...159,661,741 		JBrowse link
G ANGPTL1 angiopoietin like 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:154,339,139...154,360,540
Ensembl chr 1:158,030,657...158,052,089 		JBrowse link
G ANKRD45 ankyrin repeat domain 45 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:149,127,108...149,232,776
Ensembl chr 1:152,832,935...152,892,971 		JBrowse link
G ASTN1 astrotactin 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:152,385,103...152,688,885
Ensembl chr 1:156,085,398...156,284,771 		JBrowse link
G ATP1B1 ATPase Na+/K+ transporting subunit beta 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:144,592,667...144,621,052
Ensembl chr 1:148,314,793...148,342,050 		JBrowse link
G AXDND1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:154,847,978...155,043,339
Ensembl chr 1:158,536,967...158,724,251 		JBrowse link
G BLZF1 basic leucine zipper nuclear factor 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:144,850,261...144,870,672
Ensembl chr 1:148,572,418...148,592,827 		JBrowse link
G BRINP2 BMP/retinoic acid inducible neural specific 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:152,694,667...152,806,085
Ensembl chr 1:156,450,411...156,502,742 		JBrowse link
G C1H1orf105 chromosome 1 C1orf105 homolog ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:147,942,148...147,966,867
Ensembl chr 1:151,628,511...151,676,565 		JBrowse link
G CACNA1E calcium voltage-gated channel subunit alpha1 E ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:156,796,855...157,296,987
Ensembl chr 1:160,628,089...160,949,270 		JBrowse link
G CACYBP calcyclin binding protein ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:150,511,021...150,522,369
Ensembl chr 1:154,210,001...154,220,583 		JBrowse link
G CCDC181 coiled-coil domain containing 181 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:144,877,237...144,943,380
Ensembl chr 1:148,599,559...148,632,247 		JBrowse link
G CENPL centromere protein L ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:149,317,149...149,342,267
Ensembl chr 1:153,020,837...153,045,866 		JBrowse link
G CEP350 centrosomal protein 350 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:155,436,014...155,601,800
Ensembl chr 1:159,147,376...159,271,848 		JBrowse link
G COP1 COP1 E3 ubiquitin ligase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:151,459,354...151,727,131
Ensembl chr 1:155,156,185...155,425,156 		JBrowse link
G DARS2 aspartyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:149,342,301...149,375,979
Ensembl chr 1:153,045,886...153,080,461 		JBrowse link
G DHX9 DExH-box helicase 9 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:158,355,472...158,404,178
Ensembl chr 1:162,006,822...162,055,833 		JBrowse link
G DNM3 dynamin 3 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:147,339,773...147,916,513
Ensembl chr 1:151,049,346...151,615,808 		JBrowse link
G F5 coagulation factor V ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:144,996,757...145,070,046
Ensembl chr 1:148,718,897...148,790,915 		JBrowse link
G FAM163A family with sequence similarity 163 member A ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:155,223,640...155,297,354
Ensembl chr 1:158,974,145...158,977,214 		JBrowse link
G FAM20B FAM20B glycosaminoglycan xylosylkinase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:154,510,050...154,558,868
Ensembl chr 1:158,217,079...158,249,897 		JBrowse link
G FASLG Fas ligand ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281 		JBrowse link
G FIRRM FIGNL1 interacting regulator of recombination and mitosis ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:145,277,657...145,340,329
Ensembl chr 1:148,999,127...149,057,553 		JBrowse link
G FMO1 flavin containing dimethylaniline monoxygenase 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:146,742,505...146,778,560
Ensembl chr 1:150,456,729...150,492,527 		JBrowse link
G FMO2 flavin containing dimethylaniline monoxygenase 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:146,678,858...146,704,831
Ensembl chr 1:150,393,061...150,417,295 		JBrowse link
G FMO3 flavin containing dimethylaniline monoxygenase 3 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:146,583,570...146,611,720
Ensembl chr 1:150,298,957...150,325,850 		JBrowse link
G FMO4 flavin containing dimethylaniline monoxygenase 4 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:146,806,413...146,834,315
Ensembl chr 1:150,520,375...150,548,270 		JBrowse link
G GLUL glutamate-ammonia ligase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:157,882,258...157,891,562
Ensembl chr 1:161,534,106...161,543,411 		JBrowse link
G GORAB golgin, RAB6 interacting ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:146,020,446...146,042,334
Ensembl chr 1:149,736,641...149,758,010 		JBrowse link
G GPR52 G protein-coupled receptor 52 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:149,954,556...149,959,653 JBrowse link
G IER5 immediate early response 5 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:156,565,169...156,569,648 JBrowse link
G KIAA1614 KIAA1614 ortholog ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:156,389,268...156,428,773
Ensembl chr 1:160,061,085...160,090,396 		JBrowse link
G KIFAP3 kinesin associated protein 3 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:145,410,755...145,564,248
Ensembl chr 1:149,127,548...149,280,831 		JBrowse link
G KLHL20 kelch like family member 20 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:149,232,858...149,303,357
Ensembl chr 1:152,937,835...153,008,239 		JBrowse link
G LAMC1 laminin subunit gamma 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:158,541,635...158,663,836
Ensembl chr 1:162,700,704...162,822,534 		JBrowse link
G LAMC2 laminin subunit gamma 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:158,697,084...158,763,209
Ensembl chr 1:162,862,785...162,921,864 		JBrowse link
G LHX4 LIM homeobox 4 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:155,716,853...155,765,419
Ensembl chr 1:159,390,105...159,438,802 		JBrowse link
G LOC100972084 major histocompatibility complex class I-related gene protein ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:156,510,588...156,538,447
Ensembl chr 1:160,178,106...160,198,420 		JBrowse link
G LOC100980580 uncharacterized protein KIAA0040 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:150,669,479...150,705,474
Ensembl chr 1:154,370,708...154,371,004 		JBrowse link
G LOC100995923 torsin-1A-interacting protein 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:155,321,181...155,358,966
Ensembl chr 1:159,005,944...159,039,058 		JBrowse link
G METTL13 methyltransferase 13, eEF1A N-terminus and K55 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:147,279,795...147,295,884
Ensembl chr 1:150,986,851...151,005,571 		JBrowse link
G METTL18 methyltransferase 18, RPL3 N3(tau)-histidine ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:145,275,161...145,277,751
Ensembl chr 1:148,996,597...148,997,715 		JBrowse link
G MROH9 maestro heat like repeat family member 9 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:146,425,586...146,557,901
Ensembl chr 1:150,141,104...150,273,143 		JBrowse link
G MRPS14 mitochondrial ribosomal protein S14 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:150,524,532...150,535,053
Ensembl chr 1:154,222,744...154,233,292 		JBrowse link
G MYOC myocilin ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:147,128,541...147,146,227
Ensembl chr 1:150,841,630...150,858,628 		JBrowse link
G NCF2 neutrophil cytosolic factor 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:159,085,923...159,121,259
Ensembl chr 1:163,243,636...163,278,420 		JBrowse link
G NME7 NME/NM23 family member 7 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:144,620,719...144,850,230
Ensembl chr 1:148,343,026...148,572,499 		JBrowse link
G NMNAT2 nicotinamide nucleotide adenylyltransferase 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:158,768,949...158,948,711
Ensembl chr 1:162,929,609...163,105,524 		JBrowse link
G NPHS2 NPHS2 stomatin family member, podocin ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:155,038,753...155,064,332 JBrowse link
G NPL N-acetylneuraminate pyruvate lyase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:158,305,203...158,346,531
Ensembl chr 1:161,958,896...161,997,222 		JBrowse link
G NTMT2 N-terminal Xaa-Pro-Lys N-methyltransferase 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:145,635,789...145,658,564
Ensembl chr 1:149,352,738...149,374,488 		JBrowse link
G PAPPA2 pappalysin 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:151,727,598...152,369,670
Ensembl chr 1:155,769,395...156,063,989 		JBrowse link
G PIGC phosphatidylinositol glycan anchor biosynthesis class C ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:147,891,867...147,942,057
Ensembl chr 1:151,649,468...151,650,361 		JBrowse link
G PRDX6 peroxiredoxin 6 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:148,988,836...149,000,345 JBrowse link
G PRRC2C proline rich coiled-coil 2C ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:146,979,651...147,089,506
Ensembl chr 1:150,693,780...150,801,477 		JBrowse link
G PRRX1 paired related homeobox 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:146,151,633...146,227,926
Ensembl chr 1:149,867,634...149,943,810 		JBrowse link
G QSOX1 quiescin sulfhydryl oxidase 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:155,641,793...155,687,231
Ensembl chr 1:159,313,245...159,358,672 		JBrowse link
G RABGAP1L RAB GTPase activating protein 1 like ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:149,676,356...150,506,884
Ensembl chr 1:153,437,265...154,199,810 		JBrowse link
G RALGPS2 Ral GEF with PH domain and SH3 binding motif 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:154,224,362...154,411,202
Ensembl chr 1:157,916,856...158,097,550 		JBrowse link
G RASAL2 RAS protein activator like 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:153,609,277...153,986,155
Ensembl chr 1:157,303,646...157,670,415 		JBrowse link
G RC3H1 ring finger and CCCH-type domains 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:149,454,748...149,539,566
Ensembl chr 1:153,160,661...153,213,402 		JBrowse link
G RGS16 regulator of G protein signaling 16 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:158,117,257...158,123,031
Ensembl chr 1:161,765,595...161,774,709 		JBrowse link
G RGS8 regulator of G protein signaling 8 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:158,160,368...158,268,521
Ensembl chr 1:161,813,540...161,855,027 		JBrowse link
G RGSL1 regulator of G protein signaling like 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:157,967,552...158,079,341
Ensembl chr 1:161,619,801...161,730,852 		JBrowse link
G RNASEL ribonuclease L ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:158,092,346...158,108,026
Ensembl chr 1:161,741,645...161,760,045 		JBrowse link
G SCYL3 SCY1 like pseudokinase 3 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:145,299,266...145,383,511
Ensembl chr 1:149,057,194...149,095,445 		JBrowse link
G SEC16B SEC16 homolog B, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:153,445,298...153,555,082
Ensembl chr 1:157,139,709...157,179,830 		JBrowse link
G SELE selectin E ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:145,205,684...145,217,143
Ensembl chr 1:148,930,437...148,938,313 		JBrowse link
G SELL selectin L ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:145,173,700...145,194,927
Ensembl chr 1:148,895,373...148,916,393 		JBrowse link
G SELP selectin P ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:145,071,094...145,112,851
Ensembl chr 1:148,793,677...148,834,701 		JBrowse link
G SERPINC1 serpin family C member 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:149,421,737...149,435,301
Ensembl chr 1:153,126,031...153,139,369 		JBrowse link
G SHCBP1L SHC binding and spindle associated 1 like ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:158,416,397...158,470,003
Ensembl chr 1:162,067,996...162,629,927 		JBrowse link
G SLC19A2 solute carrier family 19 member 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:144,946,248...144,968,736
Ensembl chr 1:148,668,687...148,690,713 		JBrowse link
G SLC9C2 solute carrier family 9 member C2 (putative) ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:149,012,063...149,127,843
Ensembl chr 1:152,718,175...152,826,534 		JBrowse link
G SMG7 SMG7 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:159,002,363...159,084,572
Ensembl chr 1:163,159,362...163,242,285 		JBrowse link
G SOAT1 sterol O-acyltransferase 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:154,776,305...154,840,594
Ensembl chr 1:158,464,886...158,524,909 		JBrowse link
G STX6 syntaxin 6 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:156,450,202...156,500,143
Ensembl chr 1:160,117,825...160,167,314 		JBrowse link
G SUCO SUN domain containing ossification factor ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:148,030,922...148,112,755
Ensembl chr 1:151,739,934...151,821,285 		JBrowse link
G TDRD5 tudor domain containing 5 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:155,080,083...155,171,734
Ensembl chr 1:158,761,013...158,852,660 		JBrowse link
G TEDDM1 transmembrane epididymal protein 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:157,897,568...157,917,608
Ensembl chr 1:161,550,771...161,569,394 		JBrowse link
G TEX35 testis expressed 35 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:154,017,637...154,036,483
Ensembl chr 1:157,710,118...157,720,659 		JBrowse link
G TNFSF4 TNF superfamily member 4 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:148,684,689...148,989,775
Ensembl chr 1:152,391,450...152,415,845
Ensembl chr 1:152,391,450...152,415,845 		JBrowse link
G TNN tenascin N ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:150,580,248...150,661,687
Ensembl chr 1:154,278,714...154,357,823 		JBrowse link
G TNR tenascin R ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:150,826,892...151,257,301
Ensembl chr 1:154,532,582...154,615,538 		JBrowse link
G TOR1AIP1 torsin 1A interacting protein 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:155,362,806...155,401,185
Ensembl chr 1:159,043,072...159,081,408 		JBrowse link
G TOR3A torsin family 3 member A ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:154,563,795...154,578,339
Ensembl chr 1:158,255,410...158,271,166 		JBrowse link
G VAMP4 vesicle associated membrane protein 4 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 1:147,192,001...147,233,945
Ensembl chr 1:150,903,134...150,944,815 		JBrowse link
G XPR1 xenotropic and polytropic retrovirus receptor 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:156,121,029...156,367,565
Ensembl chr 1:159,790,170...160,029,208 		JBrowse link
G ZBTB37 zinc finger and BTB domain containing 37 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 1:149,386,001...149,406,436
Ensembl chr 1:153,090,898...153,109,767 		JBrowse link
G ZNF648 zinc finger protein 648 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 1:157,546,709...157,560,498
Ensembl chr 1:161,208,135...161,209,841 		JBrowse link
22q11 Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12223415 NCBI chr10:98,372,251...98,378,811
Ensembl chr10:101,844,792...101,853,916 		JBrowse link
G SIX1 SIX homeobox 1 ISO RGD PMID:21364285 RGD:11561941 NCBI chr14:41,250,512...41,256,567
Ensembl chr14:59,515,324...59,527,494 		JBrowse link
G TBX1 T-box transcription factor 1 ISO RGD PMID:16452092 RGD:155663362 NCBI chr22:2,521,080...2,541,267 JBrowse link
3p deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD28 ankyrin repeat domain 28 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:15,591,890...15,785,997
Ensembl chr 3:15,932,020...16,057,647 		JBrowse link
G BTD biotinidase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:15,526,339...15,575,475
Ensembl chr 3:15,863,489...15,907,497 		JBrowse link
G C3H3orf20 chromosome 3 C3orf20 homolog ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:14,600,078...14,695,130
Ensembl chr 3:14,936,746...15,034,701 		JBrowse link
G CAPN7 calpain 7 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:15,131,774...15,177,836
Ensembl chr 3:15,468,890...15,515,528 		JBrowse link
G CCDC174 coiled-coil domain containing 174 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:14,574,082...14,595,025
Ensembl chr 3:14,913,328...14,934,261 		JBrowse link
G CHCHD4 coiled-coil-helix-coiled-coil-helix domain containing 4 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:14,030,410...14,043,233
Ensembl chr 3:14,370,854...14,383,660 		JBrowse link
G COLQ collagen like tail subunit of asymmetric acetylcholinesterase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:15,373,589...15,447,613
Ensembl chr 3:15,712,630...15,784,299 		JBrowse link
G DAZL deleted in azoospermia like ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:16,514,327...16,625,601
Ensembl chr 3:16,851,158...16,862,963 		JBrowse link
G DPH3 diphthamide biosynthesis 3 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:16,183,158...16,190,184
Ensembl chr 3:16,520,076...16,527,196 		JBrowse link
G EAF1 ELL associated factor 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:15,353,459...15,368,579
Ensembl chr 3:15,689,745...15,705,300 		JBrowse link
G EFHB EF-hand domain family member B ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:19,798,204...19,855,338
Ensembl chr 3:20,128,668...20,184,718 		JBrowse link
G FBLN2 fibulin 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:13,469,679...13,558,241
Ensembl chr 3:13,812,462...13,900,332 		JBrowse link
G FGD5 FYVE, RhoGEF and PH domain containing 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:14,732,712...14,856,251
Ensembl chr 3:15,072,214...15,195,608 		JBrowse link
G GALNT15 polypeptide N-acetylgalactosaminyltransferase 15 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:16,099,794...16,152,941
Ensembl chr 3:16,436,838...16,494,038 		JBrowse link
G GRIP2 glutamate receptor interacting protein 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:14,411,825...14,525,388
Ensembl chr 3:14,756,638...14,804,952 		JBrowse link
G HACL1 2-hydroxyacyl-CoA lyase 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:15,486,897...15,526,552
Ensembl chr 3:15,823,979...15,863,982 		JBrowse link
G HDAC11 histone deacetylase 11 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:13,400,788...13,427,010
Ensembl chr 3:13,744,475...13,769,997 		JBrowse link
G KAT2B lysine acetyltransferase 2B ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:19,956,067...20,070,637
Ensembl chr 3:20,286,865...20,400,770 		JBrowse link
G KCNH8 potassium voltage-gated channel subfamily H member 8 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:19,063,663...19,461,752
Ensembl chr 3:19,498,421...19,787,890 		JBrowse link
G LSM3 LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:14,097,035...14,165,942
Ensembl chr 3:14,437,497...14,456,726 		JBrowse link
G METTL6 methyltransferase 6, tRNA N3-cytidine ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:15,306,890...15,353,505
Ensembl chr 3:15,643,545...15,690,238 		JBrowse link
G MRPS25 mitochondrial ribosomal protein S25 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:14,934,006...14,989,899
Ensembl chr 3:15,313,061...15,328,594 		JBrowse link
G NR2C2 nuclear receptor subfamily 2 group C member 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:14,869,292...14,973,977
Ensembl chr 3:15,220,110...15,306,242 		JBrowse link
G NUP210 nucleoporin 210 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:13,236,064...13,339,807
Ensembl chr 3:13,581,763...13,664,011 		JBrowse link
G OXNAD1 oxidoreductase NAD binding domain containing 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:16,190,264...16,277,168
Ensembl chr 3:16,527,259...16,584,621 		JBrowse link
G PLCL2 phospholipase C like 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:16,736,430...17,015,531
Ensembl chr 3:17,154,500...17,351,287 		JBrowse link
G PP2D1 protein phosphatase 2C like domain containing 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:19,903,905...19,930,536
Ensembl chr 3:20,233,831...20,261,322 		JBrowse link
G RAB5A RAB5A, member RAS oncogene family ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:19,866,110...19,903,701
Ensembl chr 3:20,197,067...20,234,579 		JBrowse link
G RBSN rabenosyn, RAB effector ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:14,994,647...15,023,733
Ensembl chr 3:15,333,359...15,362,361 		JBrowse link
G RFTN1 raftlin, lipid raft linker 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:16,241,255...16,441,402
Ensembl chr 3:16,578,092...16,778,464 		JBrowse link
G SATB1 SATB homeobox 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:18,267,819...18,368,924
Ensembl chr 3:18,602,204...18,681,211 		JBrowse link
G SETD5 SET domain containing 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:21681106 NCBI chr 3:9,350,026...9,430,760
Ensembl chr 3:9,592,517...9,672,306 		JBrowse link
G SH3BP5 SH3 domain binding protein 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:15,180,369...15,257,951
Ensembl chr 3:15,517,447...15,594,971 		JBrowse link
G SLC6A6 solute carrier family 6 member 6 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:14,323,251...14,411,949
Ensembl chr 3:14,663,955...14,752,326 		JBrowse link
G TBC1D5 TBC1 domain family member 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:17,080,589...17,664,776
Ensembl chr 3:17,416,307...17,768,132 		JBrowse link
G THUMPD3 THUMP domain containing 3 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:21681106 NCBI chr 3:9,315,275...9,338,096
Ensembl chr 3:9,557,894...9,581,157 		JBrowse link
G TMEM43 transmembrane protein 43 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:14,043,369...14,062,064
Ensembl chr 3:14,383,983...14,400,587 		JBrowse link
G WNT7A Wnt family member 7A ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:13,733,487...13,797,189
Ensembl chr 3:14,077,839...14,138,386 		JBrowse link
G XPC XPC complex subunit, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 3:14,063,499...14,097,023
Ensembl chr 3:14,403,958...14,437,377 		JBrowse link
46,XY sex reversal 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOX9 SRY-box transcription factor 9 ISO ClinVar Annotator: match by term: 46,XY sex reversal 10 ClinVar PMID:567843 PMID:6620326 PMID:22051515 PMID:25604083 NCBI chr17:66,028,737...66,034,122 JBrowse link
46,XY sex reversal 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMRT1 doublesex and mab-3 related transcription factor 1 ISO ClinVar Annotator: match by term: 46,XY sex reversal 4 ClinVar PMID:25741868 NCBI chr 9:650,678...778,519
Ensembl chr 9:844,366...972,656 		JBrowse link
autosomal dominant intellectual developmental disorder 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZBTB18 zinc finger and BTB domain containing 18 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 22 | ClinVar Annotator: match by term: ZBTB18-Related Disorder OMIM
ClinVar		 PMID:24193349 PMID:25741868 PMID:26740508 PMID:27598823 PMID:28135719 More... NCBI chr 1:219,660,496...219,669,134
Ensembl chr 1:225,042,281...225,050,259 		JBrowse link
Chromosome 11p Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELP4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar PMID:28492532 NCBI chr11:31,473,439...31,754,446 JBrowse link
G PAX6 paired box 6 ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar PMID:9727514 PMID:12868034 PMID:15086958 PMID:17417613 PMID:18776953 More... NCBI chr11:31,753,190...31,782,225
Ensembl chr11:31,641,813...31,664,474 		JBrowse link
G WT1 WT1 transcription factor ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:6307071 More... NCBI chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249 		JBrowse link
chromosome 13q14 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACOD1 aconitate decarboxylase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:58,166,872...58,176,146
Ensembl chr13:77,211,430...77,222,201 		JBrowse link
G ALG11 ALG11 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:33,144,708...33,166,033
Ensembl chr13:51,888,738...51,905,894 		JBrowse link
G ARL11 ADP ribosylation factor like GTPase 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:30,767,431...30,770,962
Ensembl chr13:49,518,030...49,518,620 		JBrowse link
G ATP7B ATPase copper transporting beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:33,063,698...33,144,528
Ensembl chr13:51,810,555...51,851,839 		JBrowse link
G BORA BORA aurora kinase A activator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:53,956,913...53,985,355
Ensembl chr13:72,733,006...72,761,432 		JBrowse link
G C13H13orf42 chromosome 13 C13orf42 homolog ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:32,216,898...32,247,120 JBrowse link
G CAB39L calcium binding protein 39 like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:30,446,643...30,584,608
Ensembl chr13:49,198,143...49,288,816 		JBrowse link
G CCDC70 coiled-coil domain containing 70 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:32,991,931...32,997,329
Ensembl chr13:51,741,930...51,742,631 		JBrowse link
G CDADC1 cytidine and dCMP deaminase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:30,386,671...30,432,112
Ensembl chr13:49,138,498...49,186,541 		JBrowse link
G CKAP2 cytoskeleton associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:33,371,744...33,393,483
Ensembl chr13:52,378,278...52,399,608 		JBrowse link
G CLN5 CLN5 intracellular trafficking protein ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:58,207,542...58,220,697
Ensembl chr13:77,253,203...77,263,759 		JBrowse link
G CNMD chondromodulin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:33,737,029...33,776,588
Ensembl chr13:52,547,943...52,584,720 		JBrowse link
G COMMD6 COMM domain containing 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:56,752,787...56,764,664
Ensembl chr13:75,526,128...75,537,499 		JBrowse link
G CYSLTR2 cysteinyl leukotriene receptor 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:29,796,598...29,853,676
Ensembl chr13:48,551,757...48,552,797 		JBrowse link
G DACH1 dachshund family transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:52,666,569...53,098,257 JBrowse link
G DHRS12 dehydrogenase/reductase 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:32,897,182...32,932,715
Ensembl chr13:51,642,208...51,672,203 		JBrowse link
G DIAPH3 diaphanous related formin 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:40,846,270...41,335,920
Ensembl chr13:59,676,307...60,056,672 		JBrowse link
G DIS3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:53,982,914...54,011,076
Ensembl chr13:72,760,610...72,787,325 		JBrowse link
G DLEU7 deleted in lymphocytic leukemia 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:31,834,182...31,982,703
Ensembl chr13:50,706,111...50,726,445 		JBrowse link
G EBPL EBP like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:30,799,832...30,830,670
Ensembl chr13:49,548,230...49,578,820 		JBrowse link
G EDNRB endothelin receptor type B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:59,112,349...59,136,615
Ensembl chr13:78,153,020...78,177,286 		JBrowse link
G FAM124A family with sequence similarity 124 member A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:32,356,260...32,418,132
Ensembl chr13:51,101,704...51,163,916 		JBrowse link
G FBXL3 F-box and leucine rich repeat protein 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:58,219,260...58,244,780
Ensembl chr13:77,266,496...77,283,651 		JBrowse link
G FNDC3A fibronectin type III domain containing 3A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:30,119,740...30,347,544
Ensembl chr13:48,820,018...49,049,274 		JBrowse link
G HNRNPA1L2 heterogeneous nuclear ribonucleoprotein A1 like 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:33,653,693...33,680,196
Ensembl chr13:52,487,132...52,488,093 		JBrowse link
G INTS6 integrator complex subunit 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:32,487,169...32,583,415
Ensembl chr13:51,242,452...51,327,882 		JBrowse link
G ITM2B integral membrane protein 2B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:29,383,318...29,412,018 JBrowse link
G KCNRG potassium channel regulator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:31,154,531...31,161,081
Ensembl chr13:49,901,696...49,908,169 		JBrowse link
G KCTD12 potassium channel tetramerization domain containing 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:58,097,764...58,104,972 JBrowse link
G KLF12 KLF transcription factor 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:54,916,443...55,535,131
Ensembl chr13:73,697,912...73,996,956 		JBrowse link
G KLF5 KLF transcription factor 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar
G KLHL1 kelch like family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:50,906,581...51,335,692
Ensembl chr13:69,691,537...70,118,448 		JBrowse link
G KPNA3 karyopherin subunit alpha 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:30,838,320...30,931,608
Ensembl chr13:49,586,544...49,679,906 		JBrowse link
G LMO7 LIM domain 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:56,846,724...57,084,178
Ensembl chr13:75,894,529...76,130,080 		JBrowse link
G LOC100982148 LMO7 downstream neighbor protein ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:57,096,039...57,109,497 JBrowse link
G LOC100983617 protocadherin-8 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:33,880,543...33,886,243
Ensembl chr13:52,688,522...52,692,399 		JBrowse link
G LOC100992351 putative UPF0607 protein ENSP00000383144 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:58,877,777...58,879,200 JBrowse link
G LOC117975530 proline-rich protein 20E ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:38,340,469...38,342,105 JBrowse link
G LOC130540719 uncharacterized LOC130540719 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar
G LPAR6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:29,561,219...29,567,414
Ensembl chr13:48,263,254...48,264,291 		JBrowse link
G MED4 mediator complex subunit 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:29,227,620...29,247,082
Ensembl chr13:47,929,918...47,948,836 		JBrowse link
G MLNR motilin receptor ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:30,358,092...30,362,419
Ensembl chr13:49,109,918...49,111,850 		JBrowse link
G MYCBP2 MYC binding protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:58,262,251...58,544,819
Ensembl chr13:77,306,509...77,586,843 		JBrowse link
G MZT1 mitotic spindle organizing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:53,937,689...53,956,954 JBrowse link
G NDFIP2 Nedd4 family interacting protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:60,717,590...60,792,373
Ensembl chr13:79,745,362...79,820,286 		JBrowse link
G NEK3 NIMA related kinase 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:33,261,186...33,288,316
Ensembl chr13:52,003,518...52,030,212 		JBrowse link
G NEK5 NIMA related kinase 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:33,166,069...33,260,990
Ensembl chr13:51,938,342...51,998,357 		JBrowse link
G NUDT15 nudix hydrolase 15 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:29,189,459...29,198,825
Ensembl chr13:47,891,557...47,900,971 		JBrowse link
G OBI1 ORC ubiquitin ligase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:59,840,406...59,884,765
Ensembl chr13:78,874,466...78,918,446 		JBrowse link
G OLFM4 olfactomedin 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:34,066,155...34,089,468
Ensembl chr13:52,873,289...52,896,827 		JBrowse link
G PCDH17 protocadherin 17 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:38,801,514...38,900,811
Ensembl chr13:57,532,850...57,631,725 		JBrowse link
G PCDH20 protocadherin 20 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:42,582,806...42,588,890
Ensembl chr13:61,300,554...61,318,534 		JBrowse link
G PCDH9 protocadherin 9 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:47,512,960...48,430,521
Ensembl chr13:66,310,212...67,222,134 		JBrowse link
G PHF11 PHD finger protein 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:30,636,035...30,670,262
Ensembl chr13:49,386,374...49,419,310 		JBrowse link
G PIBF1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:54,011,239...54,247,952
Ensembl chr13:72,788,608...73,022,473 		JBrowse link
G POU4F1 POU class 4 homeobox 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:59,821,614...59,829,671 JBrowse link
G RB1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575 		JBrowse link
G RBM26 RNA binding motif protein 26 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:60,547,197...60,642,551
Ensembl chr13:79,585,632...79,670,999 		JBrowse link
G RCBTB1 RCC1 and BTB domain containing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:30,673,230...30,727,480
Ensembl chr13:49,422,283...49,475,857 		JBrowse link
G RCBTB2 RCC1 and BTB domain containing protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:29,631,741...29,675,959
Ensembl chr13:48,332,860...48,377,336 		JBrowse link
G RNASEH2B ribonuclease H2 subunit B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:32,047,830...32,108,573
Ensembl chr13:50,795,701...50,852,909 		JBrowse link
G SCEL sciellin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:58,772,893...58,861,813
Ensembl chr13:77,795,230...77,904,016 		JBrowse link
G SERPINE3 serpin family E member 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:32,475,429...32,496,700
Ensembl chr13:51,220,735...51,241,791 		JBrowse link
G SETDB2 SET domain bifurcated histone lysine methyltransferase 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:30,584,762...30,635,408
Ensembl chr13:49,335,894...49,386,150 		JBrowse link
G SLAIN1 SLAIN motif family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:58,914,327...58,981,193 JBrowse link
G SLITRK1 SLIT and NTRK like family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:65,081,844...65,087,135
Ensembl chr13:84,253,287...84,256,069 		JBrowse link
G SLITRK6 SLIT and NTRK like family member 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:66,990,025...67,003,900
Ensembl chr13:86,161,905...86,164,430 		JBrowse link
G SPRY2 sprouty RTK signaling antagonist 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:61,569,658...61,574,817
Ensembl chr13:80,596,346...80,597,408 		JBrowse link
G SPRYD7 SPRY domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:31,053,278...31,076,746
Ensembl chr13:49,801,309...49,824,463 		JBrowse link
G SUCLA2 succinate-CoA ligase ADP-forming subunit beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:29,095,062...29,189,618
Ensembl chr13:47,797,472...47,856,138 		JBrowse link
G SUGT1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:33,688,941...33,724,687
Ensembl chr13:52,497,557...52,532,434 		JBrowse link
G TBC1D4 TBC1 domain family member 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:56,513,065...56,706,491
Ensembl chr13:75,282,441...75,361,729 		JBrowse link
G TDRD3 tudor domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:41,568,080...41,750,288
Ensembl chr13:60,290,518...60,470,245 		JBrowse link
G THSD1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:33,442,480...33,472,259
Ensembl chr13:52,301,206...52,330,504 		JBrowse link
G TMEM272 transmembrane protein 272 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:32,940,896...33,065,397 JBrowse link
G TRIM13 tripartite motif containing 13 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:31,137,236...31,153,398
Ensembl chr13:49,889,041...49,900,488 		JBrowse link
G UCHL3 ubiquitin C-terminal hydrolase L3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:56,776,436...56,832,539
Ensembl chr13:75,549,647...75,878,673 		JBrowse link
G UTP14C UTP14C small subunit processome component ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:33,144,810...33,166,033
Ensembl chr13:51,905,055...51,908,218 		JBrowse link
G VPS36 vacuolar protein sorting 36 homolog ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:33,398,165...33,436,615
Ensembl chr13:52,336,484...52,372,851 		JBrowse link
G WDFY2 WD repeat and FYVE domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr13:32,714,088...32,896,885
Ensembl chr13:51,535,071...51,636,052 		JBrowse link
chromosome 15q11.2 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APBA2 amyloid beta precursor protein binding family A member 2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:167,863...400,296
Ensembl chr15:27,174,217...27,241,529 		JBrowse link
G ATP10A ATPase phospholipid transporting 10A (putative) ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr15:4,064,605...4,262,695
Ensembl chr15:23,090,927...23,275,674 		JBrowse link
G AUTS2 activator of transcription and developmental regulator AUTS2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25205402 PMID:25741868 PMID:28505103 NCBI chr 7:64,822,964...66,015,831
Ensembl chr 7:77,495,909...78,686,763 		JBrowse link
G CCDC92B coiled-coil domain containing 92B ISO ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr17:2,711,407...2,740,361 JBrowse link
G CHRNA7 cholinergic receptor nicotinic alpha 7 subunit ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar NCBI chr15:10,525,535...10,667,227
Ensembl chr15:29,565,885...29,705,194 		JBrowse link
G CLUH clustered mitochondria homolog ISO ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr17:2,680,660...2,703,205
Ensembl chr17:2,685,994...2,700,587 		JBrowse link
G CYFIP1 cytoplasmic FMR1 interacting protein 1 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:31690835 Ensembl chr15:20,462,811...20,573,684 JBrowse link
G ENTREP2 endosomal transmembrane epsin interactor 2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:400,828...861,377
Ensembl chr15:26,915,381...27,176,793 		JBrowse link
G GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr15:2,953,857...3,036,722
Ensembl chr15:24,300,300...24,382,730 		JBrowse link
G GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr15:3,129,481...3,357,495
Ensembl chr15:23,981,359...24,058,357 		JBrowse link
G GABRG3 gamma-aminobutyric acid type A receptor subunit gamma3 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr15:2,371,468...2,932,250
Ensembl chr15:24,409,611...24,959,987 		JBrowse link
G GOLGA6L2 golgin A6 family like 2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:6,213,121...6,224,509 JBrowse link
G HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr15:1,590,558...1,800,023
Ensembl chr15:25,536,483...25,746,074 		JBrowse link
G LOC117975960 golgin subfamily A member 6-like protein 7 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:126,343...133,909 JBrowse link
G MAGEL2 MAGE family member L2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr15:6,017,523...6,021,849
Ensembl chr15:21,134,857...21,138,576 		JBrowse link
G MKRN3 makorin ring finger protein 3 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr15:6,036,034...6,099,137 JBrowse link
G NDN necdin, MAGE family member ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr15:5,977,519...5,979,185 JBrowse link
G NIPA1 NIPA magnesium transporter 1 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:31690835 Ensembl chr15:20,617,547...20,655,686 JBrowse link
G NIPA2 NIPA magnesium transporter 2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:31690835 Ensembl chr15:20,574,757...20,603,745 JBrowse link
G NPAP1 nuclear pore associated protein 1 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr15:5,268,210...5,272,017 JBrowse link
G NSMCE3 NSE3 homolog, SMC5-SMC6 complex component ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:550,856...552,543
Ensembl chr15:27,027,373...27,028,285 		JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr15:1,811,728...2,192,018
Ensembl chr15:25,181,386...25,523,774 		JBrowse link
G OTUD7A OTU deubiquitinase 7A ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar NCBI chr15:9,974,737...10,360,991 JBrowse link
G PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 ISO ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr17:2,584,349...2,676,928
Ensembl chr17:2,590,007...2,680,994 		JBrowse link
G RAP1GAP2 RAP1 GTPase activating protein 2 ISO ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr17:2,742,454...3,031,659
Ensembl chr17:2,760,790...3,025,393 		JBrowse link
G SNRPN small nuclear ribonucleoprotein polypeptide N ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr15:4,970,013...5,124,478
Ensembl chr15:22,347,242...22,371,062 		JBrowse link
G SNURF SNRPN upstream open reading frame ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr15:4,971,565...4,993,651
Ensembl chr15:22,347,242...22,371,062 		JBrowse link
G TJP1 tight junction protein 1 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr15:981,198...1,249,292
Ensembl chr15:26,344,878...26,598,878 		JBrowse link
G TUBGCP5 tubulin gamma complex component 5 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:31690835 Ensembl chr15:20,403,757...20,444,851 JBrowse link
G UBE3A ubiquitin protein ligase E3A ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr15:4,494,029...4,595,415
Ensembl chr15:22,747,075...22,825,459 		JBrowse link
chromosome 15q13.3 microdeletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHRNA7 cholinergic receptor nicotinic alpha 7 subunit ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:10,525,535...10,667,227
Ensembl chr15:29,565,885...29,705,194 		JBrowse link
G FAN1 FANCD2 and FANCI associated nuclease 1 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:9,395,348...9,435,434
Ensembl chr15:28,433,749...28,473,211 		JBrowse link
G KLF13 KLF transcription factor 13 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:9,818,294...9,964,912 JBrowse link
G MTMR10 myotubularin related protein 10 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:9,431,261...9,484,107
Ensembl chr15:28,469,039...28,521,997 		JBrowse link
G OTUD7A OTU deubiquitinase 7A ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:9,974,737...10,360,991 JBrowse link
G TRPM1 transient receptor potential cation channel subfamily M member 1 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr15:9,492,500...9,653,644
Ensembl chr15:28,530,878...28,690,947 		JBrowse link
chromosome 15q24 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CIMAP1C ciliary microtubule associated protein 1C ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr15:54,630,808...54,636,066
Ensembl chr15:74,225,859...74,229,571 		JBrowse link
G COMMD4 COMM domain containing 4 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr15:54,252,289...54,256,637
Ensembl chr15:73,848,231...73,852,531 		JBrowse link
G CSPG4 chondroitin sulfate proteoglycan 4 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr15:54,583,010...54,621,240
Ensembl chr15:74,177,909...74,200,498 		JBrowse link
G IMP3 IMP U3 small nucleolar ribonucleoprotein 3 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr15:54,547,455...54,548,633
Ensembl chr15:74,141,156...74,141,710 		JBrowse link
G MAN2C1 mannosidase alpha class 2C member 1 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr15:54,272,142...54,285,102
Ensembl chr15:73,868,134...73,880,704 		JBrowse link
G NEIL1 nei like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr15:54,263,424...54,271,601
Ensembl chr15:73,858,910...73,867,474 		JBrowse link
G PTPN9 protein tyrosine phosphatase non-receptor type 9 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr15:54,382,689...54,489,942
Ensembl chr15:73,978,147...74,034,204 		JBrowse link
G SIN3A SIN3 transcription regulator family member A ISO ClinVar Annotator: match by term: 15q24 Microdeletion Syndrome | ClinVar Annotator: match by term: SIN3A-related intellectual disability syndrome | ClinVar Annotator: match by term: Witteveen-kolk syndrome OMIM
ClinVar		 PMID:18755302 PMID:19557438 PMID:21681106 PMID:25741868 PMID:27399968 More... NCBI chr15:54,285,587...54,371,376
Ensembl chr15:73,881,500...73,966,506 		JBrowse link
G SNUPN snurportin 1 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr15:54,508,586...54,536,301
Ensembl chr15:74,102,753...74,126,511 		JBrowse link
G SNX33 sorting nexin 33 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr15:54,556,304...54,570,683
Ensembl chr15:74,151,053...74,159,584 		JBrowse link
chromosome 15q26-qter deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif 17 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr15:78,703,728...79,076,861
Ensembl chr15:97,999,448...98,366,893 		JBrowse link
G ALDH1A3 aldehyde dehydrogenase 1 family member A3 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr15:79,603,893...79,640,866
Ensembl chr15:98,891,770...98,928,396 		JBrowse link
G ASB7 ankyrin repeat and SOCS box containing 7 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr15:79,328,868...79,378,039
Ensembl chr15:98,616,797...98,666,094 		JBrowse link
G CERS3 ceramide synthase 3 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr15:79,128,338...79,272,018
Ensembl chr15:98,422,256...98,521,775 		JBrowse link
G CHSY1 chondroitin sulfate synthase 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr15:79,901,340...79,976,067
Ensembl chr15:99,186,705...99,260,591 		JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974 		JBrowse link
G LINS1 lines homolog 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr15:79,293,426...79,328,691
Ensembl chr15:98,583,906...98,616,407 		JBrowse link
G LRRC28 leucine rich repeat containing 28 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr15:77,932,476...78,069,106
Ensembl chr15:97,117,104...97,250,570 		JBrowse link
G LRRK1 leucine rich repeat kinase 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr15:79,642,908...79,793,990
Ensembl chr15:98,931,344...99,081,168 		JBrowse link
G LYSMD4 LysM domain containing 4 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr15:78,396,860...78,413,774
Ensembl chr15:97,590,076...97,596,035 		JBrowse link
G MEF2A myocyte enhancer factor 2A ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr15:78,246,439...78,396,720
Ensembl chr15:97,428,744...97,579,092 		JBrowse link
G PGPEP1L pyroglutamyl-peptidase I like ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr15:77,651,265...77,791,570
Ensembl chr15:96,836,590...96,839,587 		JBrowse link
G SYNM synemin ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr15:77,790,447...77,821,317
Ensembl chr15:96,975,160...97,002,412 		JBrowse link
G TTC23 tetratricopeptide repeat domain 23 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr15:77,821,847...77,932,769
Ensembl chr15:97,005,675...97,116,569 		JBrowse link
chromosome 16p11.2 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDOA aldolase, fructose-bisphosphate A ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835
G ASPHD1 aspartate beta-hydroxylase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,268,390...30,273,581 JBrowse link
G ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 Ensembl chr16:29,265,516...29,290,807
Ensembl chr16:29,265,516...29,290,807 		JBrowse link
G ATXN2L ataxin 2 like ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 Ensembl chr16:29,209,115...29,226,239 JBrowse link
G BOLA2B bolA family member 2B ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:31690835
G C16H16orf54 chromosome 16 C16orf54 homolog ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,117,052...30,117,726 JBrowse link
G C16H16orf92 chromosome 16 C16orf92 homolog ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,398,743...30,399,615 JBrowse link
G CD19 CD19 molecule ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 Ensembl chr16:29,320,734...29,327,481 JBrowse link
G CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,227,772...30,233,145 JBrowse link
G CORO1A coronin 1A ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,550,383...30,556,196 JBrowse link
G DOC2A double C2 domain alpha ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,378,922...30,384,142 JBrowse link
G GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,479,684...30,488,868 JBrowse link
G HIRIP3 HIRA interacting protein 3 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,365,725...30,369,486 JBrowse link
G INO80E INO80 complex subunit E ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,369,610...30,379,198 JBrowse link
G KCTD13 potassium channel tetramerization domain containing 13 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835
G KIF22 kinesin family member 22 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,161,702...30,177,170 JBrowse link
G LAT linker for activation of T cells ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909
G LOC100995352 keratin-associated protein 10-2 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868
G LOC103783265 pulmonary surfactant-associated protein A1 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr10:76,571,312...76,575,820 JBrowse link
G LOC117978925 nuclear pore complex-interacting protein family member A7 ISO ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar
G MAPK3 mitogen-activated protein kinase 3 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,489,362...30,498,017 JBrowse link
G MAZ MYC associated zinc finger protein ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,049,806...30,070,469 JBrowse link
G MVP major vault protein ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,190,090...30,219,070 JBrowse link
G MVP-DT MVP divergent transcript ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868
G NFATC2IP nuclear factor of activated T cells 2 interacting protein ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909
G PAGR1 PAXIP1 associated glutamate rich protein 1 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,186,326...30,190,654 JBrowse link
G PPP4C protein phosphatase 4 catalytic subunit ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,450,467...30,464,446 JBrowse link
G PRRT2 proline rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,183,352...30,187,862 JBrowse link
G QPRT quinolinate phosphoribosyltransferase ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,049,806...30,070,469 JBrowse link
G RABEP2 rabaptin, RAB GTPase binding effector protein 2 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 Ensembl chr16:29,289,949...29,314,177 JBrowse link
G SEZ6L2 seizure related 6 homolog like 2 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,240,276...30,267,689 JBrowse link
G SH2B1 SH2B adaptor protein 1 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 Ensembl chr16:29,249,597...29,263,334 JBrowse link
G SLX1A SLX1 homolog A, structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:31690835
G SPN sialophorin ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,035,243...30,036,445 JBrowse link
G SPNS1 SPNS lysolipid transporter 1, lysophospholipid ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909
G SULT1A1 sulfotransferase family 1A member 1 ISO ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar
G SULT1A3 sulfotransferase family 1A member 3 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:31690835
G TAOK2 TAO kinase 2 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,347,229...30,366,743 JBrowse link
G TBX6 T-box transcription factor 6 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,460,305...30,467,070 JBrowse link
G TLCD3B TLC domain containing 3B ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,399,815...30,406,663 JBrowse link
G TMEM219 transmembrane protein 219 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,327,890...30,346,316 JBrowse link
G TUFM Tu translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 Ensembl chr16:29,227,852...29,233,513 JBrowse link
G YPEL3 yippee like 3 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,467,490...30,471,256 JBrowse link
G ZG16 zymogen granule protein 16 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 Ensembl chr16:30,149,307...30,151,579 JBrowse link
chromosome 16p12.1 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDR2 cerebellar degeneration related protein 2 ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr16:16,305,281...16,385,601 JBrowse link
G EEF2K eukaryotic elongation factor 2 kinase ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr16:16,443,579...16,526,061
Ensembl chr16:22,537,518...22,596,091 		JBrowse link
G LOC100972888 cytochrome b-c1 complex subunit 2, mitochondrial ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr16:16,750,102...16,780,867
Ensembl chr16:22,263,433...22,294,137 		JBrowse link
G MOSMO modulator of smoothened ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr16:16,645,508...16,725,434
Ensembl chr16:22,319,108...22,395,805 		JBrowse link
G PDZD9 PDZ domain containing 9 ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr16:16,731,845...16,775,963
Ensembl chr16:22,294,635...22,311,852 		JBrowse link
G POLR3E RNA polymerase III subunit E ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr16:16,397,988...16,434,949
Ensembl chr16:22,609,181...22,645,511 		JBrowse link
G SDR42E2 short chain dehydrogenase/reductase family 42E, member 2 ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr16:16,540,166...16,569,799
Ensembl chr16:22,477,440...22,502,105 		JBrowse link
G VWA3A von Willebrand factor A domain containing 3A ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr16:16,575,765...16,640,697
Ensembl chr16:22,403,518...22,468,186 		JBrowse link
chromosome 16q22 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACD ACD shelterin complex subunit and telomerase recruitment factor ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr16:48,001,408...48,004,620
Ensembl chr16:67,390,703...67,393,685 		JBrowse link
G C16H16orf86 chromosome 16 C16orf86 homolog ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr16:48,010,721...48,012,660
Ensembl chr16:67,400,057...67,401,999 		JBrowse link
G CARMIL2 capping protein regulator and myosin 1 linker 2 ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr16:47,989,040...48,001,455
Ensembl chr16:67,378,353...67,390,709 		JBrowse link
G CTCF CCCTC-binding factor ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr16:47,906,503...47,983,271
Ensembl chr16:67,302,952...67,372,041 		JBrowse link
G ENKD1 enkurin domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr16:48,006,827...48,010,646
Ensembl chr16:67,396,162...67,399,956 		JBrowse link
G GFOD2 Gfo/Idh/MocA-like oxidoreductase domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr16:48,018,181...48,067,345
Ensembl chr16:67,407,669...67,456,632 		JBrowse link
G PARD6A par-6 family cell polarity regulator alpha ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr16:48,004,822...48,006,656
Ensembl chr16:67,394,252...67,395,991 		JBrowse link
G RANBP10 RAN binding protein 10 ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr16:48,071,095...48,148,105
Ensembl chr16:67,460,311...67,536,892 		JBrowse link
Chromosome 17 Deletion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KANSL1 KAT8 regulatory NSL complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22544363 PMID:22544367 NCBI chr17:11,508,245...11,705,023
Ensembl chr17:11,296,318...11,456,593 		JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14961032 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120 		JBrowse link
chromosome 17q11.2 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RNF135 ring finger protein 135 ISO ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome ClinVar PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 More... NCBI chr17:25,843,447...25,869,874 JBrowse link
chromosome 17q12 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AATF apoptosis antagonizing transcription factor ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr17:20,027,351...20,129,255
Ensembl chr17:20,325,282...20,426,359 		JBrowse link
G ACACA acetyl-CoA carboxylase alpha ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr17:19,670,114...19,998,903
Ensembl chr17:19,969,205...20,297,651 		JBrowse link
G C17H17orf78 chromosome 17 C17orf78 homolog ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr17:19,690,994...19,704,223
Ensembl chr17:19,986,722...20,003,170 		JBrowse link
G CCL18 C-C motif chemokine ligand 18 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:24088041 PMID:26633545 NCBI chr17:20,723,413...20,730,633
Ensembl chr17:21,019,868...21,027,070 		JBrowse link
G DDX52 DExD-box helicase 52 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr17:19,433,036...19,466,975
Ensembl chr17:19,734,588...19,763,689 		JBrowse link
G DHRS11 dehydrogenase/reductase 11 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr17:20,480,754...20,489,736
Ensembl chr17:20,776,083...20,784,789 		JBrowse link
G DUSP14 dual specificity phosphatase 14 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr17:19,562,013...19,585,798
Ensembl chr17:19,862,235...19,862,831 		JBrowse link
G GGNBP2 gametogenetin binding protein 2 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr17:20,491,687...20,537,516
Ensembl chr17:20,786,936...20,831,055 		JBrowse link
G HNF1B HNF1 homeobox B ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr17:19,333,485...19,392,147
Ensembl chr17:19,633,424...19,691,863 		JBrowse link
G LHX1 LIM homeobox 1 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr17:20,134,308...20,140,652
Ensembl chr17:20,430,618...20,437,751 		JBrowse link
G LOC100992309 C-C motif chemokine 3 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:24088041 PMID:26633545 NCBI chr17:20,704,738...20,706,641
Ensembl chr17:21,000,709...21,002,610 		JBrowse link
G LOC117974322 C-C motif chemokine 4 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:24088041 PMID:26633545 NCBI chr17:20,689,341...20,691,921 JBrowse link
G MRM1 mitochondrial rRNA methyltransferase 1 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr17:20,472,593...20,479,991
Ensembl chr17:20,767,988...20,775,308 		JBrowse link
G MRPL45 mitochondrial ribosomal protein L45 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:24088041 PMID:26633545 NCBI chr17:18,949,525...18,974,651 JBrowse link
G MYO19 myosin XIX ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr17:20,546,652...20,586,131
Ensembl chr17:20,840,913...20,880,242 		JBrowse link
G PIGW phosphatidylinositol glycan anchor biosynthesis class W ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr17:20,542,694...20,547,347
Ensembl chr17:20,837,769...20,839,283 		JBrowse link
G SYNRG synergin gamma ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr17:19,467,539...19,560,618
Ensembl chr17:19,768,058...19,860,323 		JBrowse link
G TADA2A transcriptional adaptor 2A ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr17:19,595,055...19,670,090
Ensembl chr17:19,897,659...19,967,926 		JBrowse link
G ZNHIT3 zinc finger HIT-type containing 3 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr17:20,583,614...20,595,332
Ensembl chr17:20,878,333...20,889,078 		JBrowse link
chromosome 18p deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:1,951,279...1,999,313
Ensembl chr18:17,062,250...17,109,400 		JBrowse link
G AKAIN1 A-kinase anchor inhibitor 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:9,083,750...9,138,400 JBrowse link
G ANKRD12 ankyrin repeat domain 12 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:5,002,212...5,153,112
Ensembl chr18:7,287,287...7,385,041 		JBrowse link
G ANKRD62 ankyrin repeat domain 62 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:2,191,716...2,231,178
Ensembl chr18:4,456,082...4,493,924 		JBrowse link
G APCDD1 APC down-regulated 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:3,799,425...3,834,557
Ensembl chr18:6,083,649...6,117,276 		JBrowse link
G ARHGAP28 Rho GTPase activating protein 28 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:7,366,986...7,548,782
Ensembl chr18:9,690,107...9,775,270 		JBrowse link
G CEP192 centrosomal protein 192 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:1,205,747...1,339,267
Ensembl chr18:16,327,808...16,452,575 		JBrowse link
G CEP76 centrosomal protein 76 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:1,620,954...1,650,498
Ensembl chr18:16,735,827...16,765,269 		JBrowse link
G CHMP1B charged multivesicular body protein 1B ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:2,452,393...2,455,509 JBrowse link
G CIDEA cell death inducing DFFA like effector a ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:2,051,880...2,075,909 JBrowse link
G DLGAP1 DLG associated protein 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:9,816,171...10,781,490
Ensembl chr18:12,704,306...13,091,118 		JBrowse link
G EMILIN2 elastin microfibril interfacer 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:11,368,328...11,435,808
Ensembl chr18:13,678,772...13,743,346 		JBrowse link
G EPB41L3 erythrocyte membrane protein band 4.1 like 3 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:8,656,684...8,894,170
Ensembl chr18:10,993,680...11,210,416 		JBrowse link
G FAM210A family with sequence similarity 210 member A ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:598,267...657,131
Ensembl chr18:2,767,335...2,827,533 		JBrowse link
G GNAL G protein subunit alpha L ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:2,420,578...2,615,947 JBrowse link
G IMPA2 inositol monophosphatase 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:2,293,788...2,344,422
Ensembl chr18:4,557,280...4,608,991 		JBrowse link
G L3MBTL4 L3MBTL histone methyl-lysine binding protein 4 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:7,861,424...8,338,011 JBrowse link
G LAMA1 laminin subunit alpha 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:7,159,568...7,335,363
Ensembl chr18:9,482,895...9,656,800 		JBrowse link
G LDLRAD4 low density lipoprotein receptor class A domain containing 4 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:669,862...1,110,558
Ensembl chr18:2,845,198...2,879,363 		JBrowse link
G LOC100977910 myosin regulatory light chain 12B ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:10,999,849...11,016,059
Ensembl chr18:13,308,356...13,324,754 		JBrowse link
G LPIN2 lipin 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:11,270,941...11,367,312
Ensembl chr18:13,608,883...13,675,165 		JBrowse link
G LRRC30 leucine rich repeat containing 30 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:7,042,813...7,043,785
Ensembl chr18:9,367,147...9,368,052 		JBrowse link
G MC2R melanocortin 2 receptor ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:409,141...442,578
Ensembl chr18:2,608,691...2,609,584 		JBrowse link
G MC5R melanocortin 5 receptor ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:495,561...501,555
Ensembl chr18:2,668,394...2,669,371 		JBrowse link
G MPPE1 metallophosphoesterase 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:2,397,423...2,423,209
Ensembl chr18:4,662,348...4,686,262 		JBrowse link
G MTCL1 microtubule crosslinking factor 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:5,454,320...5,580,020
Ensembl chr18:7,737,903...7,906,958 		JBrowse link
G MYOM1 myomesin 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:11,057,733...11,215,998
Ensembl chr18:13,368,052...13,523,834 		JBrowse link
G NAPG NSF attachment protein gamma ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:3,737,245...3,764,064
Ensembl chr18:6,020,592...6,047,429 		JBrowse link
G NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:5,154,158...5,186,088
Ensembl chr18:7,433,167...7,464,884 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:3,141,285...3,619,885
Ensembl chr18:5,407,467...5,882,928 		JBrowse link
G PPP4R1 protein phosphatase 4 regulatory subunit 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:4,671,010...4,742,301
Ensembl chr18:6,974,934...7,022,996 		JBrowse link
G PRELID3A PRELI domain containing 3A ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:1,895,635...1,920,455
Ensembl chr18:17,006,556...17,021,984 		JBrowse link
G PSMG2 proteasome assembly chaperone 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:1,597,981...1,620,721
Ensembl chr18:16,713,534...16,735,531 		JBrowse link
G PTPN2 protein tyrosine phosphatase non-receptor type 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:1,440,837...1,538,501
Ensembl chr18:16,562,052...16,659,570 		JBrowse link
G PTPRM protein tyrosine phosphatase receptor type M ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:5,879,556...6,706,824
Ensembl chr18:8,206,677...9,030,286 		JBrowse link
G RAB12 RAB12, member RAS oncogene family ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:5,646,023...5,675,920
Ensembl chr18:7,972,938...8,027,500 		JBrowse link
G RAB31 RAB31, member RAS oncogene family ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:4,424,677...4,578,263
Ensembl chr18:6,710,174...6,859,896 		JBrowse link
G RALBP1 ralA binding protein 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:4,747,555...4,810,710
Ensembl chr18:7,028,188...7,090,934 		JBrowse link
G RNMT RNA guanine-7 methyltransferase ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:560,744...598,216
Ensembl chr18:2,729,921...2,767,279 		JBrowse link
G SEH1L SEH1 like nucleoporin ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:1,342,928...1,379,719
Ensembl chr18:16,464,446...16,500,693 		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 chr18:11,479,742...11,627,035
Ensembl chr18:13,785,912...13,933,887 		JBrowse link
G SPIRE1 spire type actin nucleation factor 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:1,663,614...1,881,357
Ensembl chr18:16,800,870...16,992,959 		JBrowse link
G TGIF1 TGFB induced factor homeobox 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:10,819,015...10,830,282
Ensembl chr18:13,128,359...13,139,145 		JBrowse link
G TMEM200C transmembrane protein 200C ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:8,396,671...8,410,608
Ensembl chr18:10,718,658...10,720,521 		JBrowse link
G TUBB6 tubulin beta 6 class V ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:1,998,428...2,020,202 JBrowse link
G TWSG1 twisted gastrulation BMP signaling modulator 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:4,883,688...4,950,963
Ensembl chr18:7,164,091...7,229,271 		JBrowse link
G TXNDC2 thioredoxin domain containing 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:4,397,565...4,401,236 JBrowse link
G VAPA VAMP associated protein A ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:4,329,479...4,373,047
Ensembl chr18:6,612,105...6,637,829 		JBrowse link
G ZBTB14 zinc finger and BTB domain containing 14 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:8,986,957...8,996,065
Ensembl chr18:11,303,612...11,309,749 		JBrowse link
chromosome 18q deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADNP2 ADNP homeobox 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:73,757,926...73,789,771
Ensembl chr18:77,080,441...77,103,098 		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 chr18:72,468,421...72,847,314
Ensembl chr18:75,686,430...75,988,106 		JBrowse link
G BCL2 BCL2 apoptosis regulator ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100 		JBrowse link
G C18H18orf63 chromosome 18 C18orf63 homolog ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:67,700,930...67,741,493
Ensembl chr18:70,981,368...71,024,698 		JBrowse link
G CBLN2 cerebellin 2 precursor ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:65,906,154...66,010,195 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 chr18:62,113,486...62,539,281
Ensembl chr18:65,409,714...65,771,415 		JBrowse link
G CD226 CD226 molecule ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:63,238,477...63,379,346
Ensembl chr18:66,533,949...66,627,580 		JBrowse link
G CDH19 cadherin 19 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:59,852,350...59,954,744
Ensembl chr18:63,156,263...63,258,767 		JBrowse link
G CDH20 cadherin 20 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:54,706,558...54,928,744
Ensembl chr18:58,028,533...58,250,790 		JBrowse link
G CDH7 cadherin 7 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:59,104,931...59,244,999
Ensembl chr18:62,413,715...62,543,844 		JBrowse link
G CNDP1 carnosine dipeptidase 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:67,920,453...67,982,843
Ensembl chr18:71,162,331...71,188,879
Ensembl chr18:71,162,331...71,188,879 		JBrowse link
G CNDP2 carnosine dipeptidase 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:67,882,189...67,907,094
Ensembl chr18:71,162,331...71,188,879 		JBrowse link
G CTDP1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:73,279,510...73,357,718
Ensembl chr18:76,646,641...76,722,573 		JBrowse link
G DIPK1C divergent protein kinase domain 1C ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:67,820,362...67,843,515
Ensembl chr18:71,102,421...71,123,802 		JBrowse link
G DOK6 docking protein 6 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:62,785,687...63,227,505
Ensembl chr18:66,236,817...66,512,229 		JBrowse link
G DSEL dermatan sulfate epimerase like ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:60,880,241...60,890,372 JBrowse link
G FBXO15 F-box protein 15 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:67,455,924...67,529,959
Ensembl chr18:70,740,443...70,814,441 		JBrowse link
G GALR1 galanin receptor 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:70,643,718...70,664,068
Ensembl chr18:73,899,995...73,917,752 		JBrowse link
G HMSD histocompatibility minor serpin domain containing ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:57,306,835...57,315,231 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 chr18:73,608,483...73,615,823 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 chr18:73,431,735...73,546,602 JBrowse link
G KDSR 3-ketodihydrosphingosine reductase ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:56,686,914...56,727,681
Ensembl chr18:60,001,637...60,036,292 		JBrowse link
G LOC100968898 cytochrome b5 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:67,638,406...67,677,111
Ensembl chr18:70,919,617...70,957,732 		JBrowse link
G MBP myelin basic protein ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:70,369,882...70,526,693
Ensembl chr18:73,629,522...73,755,351 		JBrowse link
G MC4R melanocortin 4 receptor ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 NCBI chr18:53,744,172...53,747,282
Ensembl chr18:57,069,259...57,070,257 		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 chr18:66,114,425...66,240,141
Ensembl chr18:69,408,116...69,527,333 		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 chr18:72,948,067...73,083,180
Ensembl chr18:76,017,454...76,094,453 		JBrowse link
G PARD6G par-6 family cell polarity regulator gamma ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:73,806,710...73,904,494
Ensembl chr18:77,122,483...77,167,659 		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 chr18:56,084,851...56,338,551 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 chr18:55,415,182...55,557,092
Ensembl chr18:58,733,740...58,875,183 		JBrowse link
G PTGR3 prostaglandin reductase 3 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:68,584,392...68,596,230
Ensembl chr18:71,859,470...71,870,919 		JBrowse link
G RBFA ribosome binding factor A ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:73,679,972...73,696,321
Ensembl chr18:76,997,888...77,013,864 		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 chr18:55,557,276...55,677,161
Ensembl chr18:58,875,013...58,995,036 		JBrowse link
G RNF152 ring finger protein 152 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:55,180,955...55,264,164
Ensembl chr18:58,507,684...58,508,295 		JBrowse link
G RTTN rotatin ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:63,381,953...63,584,937
Ensembl chr18:66,674,597...66,874,104 		JBrowse link
G SALL3 spalt like transcription factor 3 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:72,381,249...72,403,789 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 chr18:57,262,514...57,289,744
Ensembl chr18:60,573,580...60,599,697 		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 chr18:57,061,477...57,083,031
Ensembl chr18:60,373,142...60,394,132 		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 chr18:56,915,588...56,926,603
Ensembl chr18:60,190,661...60,240,704 		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 chr18:56,946,828...56,958,702
Ensembl chr18:60,258,085...60,270,607 		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 chr18:57,242,498...57,258,676
Ensembl chr18:60,553,323...60,569,594 		JBrowse link
G SERPINB4 serpin family B member 4 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:56,996,437...57,003,489 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 chr18:56,836,403...56,864,533
Ensembl chr18:60,148,552...60,176,624 		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 chr18:57,112,242...57,164,213
Ensembl chr18:60,445,135...60,475,165 		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 chr18:57,313,562...57,373,502
Ensembl chr18:60,634,206...60,669,118 		JBrowse link
G SLC66A2 solute carrier family 66 member 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:73,549,273...73,596,658
Ensembl chr18:76,869,584...76,915,363 		JBrowse link
G SMIM21 small integral membrane protein 21 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:68,795,702...68,815,275 JBrowse link
G SOCS6 suppressor of cytokine signaling 6 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:63,666,761...63,710,085
Ensembl chr18:66,994,489...66,996,096 		JBrowse link
G TIMM21 translocase of inner mitochondrial membrane 21 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:67,530,610...67,540,966
Ensembl chr18:70,815,069...70,825,436 		JBrowse link
G TMX3 thioredoxin related transmembrane protein 3 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:62,072,290...62,113,574
Ensembl chr18:65,368,718...65,409,664 		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 chr18:55,695,394...55,761,307
Ensembl chr18:59,034,770...59,075,044 		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 chr18:68,597,354...68,676,462
Ensembl chr18:71,873,594...71,951,654 		JBrowse link
G TXNL4A thioredoxin like 4A ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:73,618,302...73,679,603
Ensembl chr18:76,937,460...76,952,428 		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 chr18:56,749,439...56,782,660
Ensembl chr18:60,060,285...60,095,109 		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 chr18:55,893,099...55,948,648
Ensembl chr18:59,209,993...59,265,634 		JBrowse link
G ZNF236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:70,213,383...70,361,741
Ensembl chr18:73,496,761...73,617,956 		JBrowse link
G ZNF407 zinc finger protein 407 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:67,985,750...68,451,774 JBrowse link
G ZNF516 zinc finger protein 516 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:69,748,472...69,891,026
Ensembl chr18:73,026,076...73,103,609 		JBrowse link
G ZNF516-DT ZNF516 divergent transcript ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:69,890,183...69,892,640 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 chr19:31,382,856...31,424,252
Ensembl chr19:40,110,049...40,149,742 		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 1:11,468,087...11,480,718 JBrowse link
G AADACL4 arylacetamide deacetylase like 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:11,396,544...11,419,064 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 1:46,883...62,642
Ensembl chr 1:1,249,719...1,259,645 		JBrowse link
G ACOT7 acyl-CoA thioesterase 7 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:5,030,488...5,154,800 JBrowse link
G ACTL8 actin like 8 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:16,704,097...16,775,712
Ensembl chr 1:17,823,641...17,827,699 		JBrowse link
G ACTRT2 actin related protein T2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:1,680,590...1,682,020
Ensembl chr 1:2,818,917...2,820,050 		JBrowse link
G AGMAT agmatinase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:14,711,891...14,723,546
Ensembl chr 1:15,704,989...15,717,428 		JBrowse link
G AGRN agrin ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 Ensembl chr 1:936,000...966,808 JBrowse link
G AGTRAP angiotensin II receptor associated protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:10,498,245...10,512,906
Ensembl chr 1:11,715,672...11,730,326 		JBrowse link
G AJAP1 adherens junctions associated protein 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:3,340,904...3,482,242
Ensembl chr 1:4,505,143...4,590,779 		JBrowse link
G AKR7A2 aldo-keto reductase family 7 member A2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:18,262,631...18,270,783
Ensembl chr 1:19,309,471...19,317,227 		JBrowse link
G ALDH4A1 aldehyde dehydrogenase 4 family member A1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:17,829,723...17,861,008
Ensembl chr 1:18,878,421...18,909,615 		JBrowse link
G ANGPTL7 angiopoietin like 7 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:9,955,033...9,961,886
Ensembl chr 1:11,176,355...11,183,048 		JBrowse link
G ANKRD65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:174,353...177,846 JBrowse link
G ARHGEF10L Rho guanine nucleotide exchange factor 10 like ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:16,486,514...16,644,724
Ensembl chr 1:17,580,389...17,697,195 		JBrowse link
G ARHGEF16 Rho guanine nucleotide exchange factor 16 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:2,121,058...2,148,391
Ensembl chr 1:3,258,664...3,275,809 		JBrowse link
G ARHGEF19 Rho guanine nucleotide exchange factor 19 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:15,334,564...15,354,061
Ensembl chr 1:16,327,135...16,342,009 		JBrowse link
G ATAD3C ATPase family AAA domain containing 3C ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:209,176...227,683
Ensembl chr 1:1,407,391...1,425,563 		JBrowse link
G ATP13A2 ATPase cation transporting 13A2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:15,929,613...15,955,631
Ensembl chr 1:16,986,385...17,006,033
Ensembl chr 1:16,986,385...17,006,033 		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 1:129,234...130,866
Ensembl chr 1:1,329,414...1,331,203 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868
G C1H1orf127 chromosome 1 C1orf127 homolog ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:9,707,483...9,725,888
Ensembl chr 1:10,929,614...10,966,254 		JBrowse link
G C1H1orf159 chromosome 1 C1orf159 homolog ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 Ensembl chr 1:997,350...1,034,180 JBrowse link
G C1H1orf167 chromosome 1 C1orf167 homolog ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:10,524,980...10,551,759
Ensembl chr 1:11,741,083...11,769,155 		JBrowse link
G C1H1orf174 chromosome 1 C1orf174 homolog ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:2,563,184...2,574,235
Ensembl chr 1:3,682,181...3,692,637 		JBrowse link
G C1QTNF12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 Ensembl chr 1:1,200,756...1,205,301 JBrowse link
G CA6 carbonic anhydrase 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:7,703,187...7,732,409
Ensembl chr 1:8,938,164...8,966,300 		JBrowse link
G CALML6 calmodulin like 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:619,689...623,308
Ensembl chr 1:1,778,101...1,780,581 		JBrowse link
G CAMTA1 calmodulin binding transcription activator 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:5,549,742...6,532,568
Ensembl chr 1:6,824,687...7,781,265 		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 1:18,297,434...18,444,011
Ensembl chr 1:19,344,154...19,488,133 		JBrowse link
G CASP9 caspase 9 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:14,630,659...14,662,865
Ensembl chr 1:15,624,666...15,656,266 		JBrowse link
G CASZ1 castor zinc finger 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:9,396,936...9,557,100
Ensembl chr 1:10,622,519...10,677,091 		JBrowse link
G CCDC27 coiled-coil domain containing 27 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:2,423,607...2,443,033
Ensembl chr 1:3,544,974...3,564,999 		JBrowse link
G CCNL2 cyclin L2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:142,530...155,377
Ensembl chr 1:1,344,346...1,355,361 		JBrowse link
G CDK11B cyclin dependent kinase 11B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:399,997...423,094
Ensembl chr 1:1,558,423...1,579,305 		JBrowse link
G CENPS centromere protein S ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:9,190,303...9,211,812 JBrowse link
G CEP104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:2,485,711...2,529,745
Ensembl chr 1:3,606,659...3,648,832 		JBrowse link
G CFAP107 cilia and flagella associated protein 107 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:11,498,043...11,513,576
Ensembl chr 1:12,711,179...12,726,105 		JBrowse link
G CFAP74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:627,950...715,982
Ensembl chr 1:1,785,550...1,856,062 		JBrowse link
G CHD5 chromodomain helicase DNA binding protein 5 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:4,867,636...4,947,401
Ensembl chr 1:6,125,525...6,191,991 		JBrowse link
G CLCN6 chloride voltage-gated channel 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:10,568,222...10,605,459
Ensembl chr 1:11,785,643...11,822,505 		JBrowse link
G CLCNKB chloride voltage-gated channel Kb ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:15,180,858...15,194,757
Ensembl chr 1:16,174,570...16,188,166 		JBrowse link
G CLSTN1 calsyntenin 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:8,495,571...8,591,613
Ensembl chr 1:9,724,743...9,774,760 		JBrowse link
G CORT cortistatin ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:9,210,186...9,212,201 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 1:15,368,318...15,373,815
Ensembl chr 1:16,362,655...16,368,063 		JBrowse link
G CPTP ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:81,942...86,035
Ensembl chr 1:1,281,979...1,285,620 		JBrowse link
G CROCC ciliary rootlet coiled-coil, rootletin ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:15,857,442...15,916,674
Ensembl chr 1:16,923,823...16,973,479 		JBrowse link
G CTNNBIP1 catenin beta interacting protein 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar
G CTRC chymotrypsin C ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:14,576,496...14,588,143
Ensembl chr 1:15,571,771...15,580,000 		JBrowse link
G DDI2 DNA damage inducible 1 homolog 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:14,757,327...14,810,959
Ensembl chr 1:15,749,497...15,790,263
Ensembl chr 1:15,749,497...15,790,263 		JBrowse link
G DFFA DNA fragmentation factor subunit alpha ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:9,221,096...9,232,813
Ensembl chr 1:10,445,553...10,457,547 		JBrowse link
G DFFB DNA fragmentation factor subunit beta ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:2,529,733...2,559,490
Ensembl chr 1:3,649,729...3,676,896 		JBrowse link
G DHRS3 dehydrogenase/reductase 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:11,319,109...11,370,463
Ensembl chr 1:12,533,696...12,584,381 		JBrowse link
G DISP3 dispatched RND transporter family member 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:10,241,808...10,298,163
Ensembl chr 1:11,460,541...11,516,410 		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 1:5,398,198...5,464,738
Ensembl chr 1:6,649,908...6,716,755 		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 1:14,664,286...14,710,171
Ensembl chr 1:15,659,107...15,707,329 		JBrowse link
G DRAXIN dorsal inhibitory axon guidance protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:10,453,708...10,488,391
Ensembl chr 1:11,670,651...11,700,012 		JBrowse link
G DVL1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:92,469...106,748
Ensembl chr 1:1,292,052...1,301,008 		JBrowse link
G EFHD2 EF-hand domain family member D2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:14,548,253...14,568,784
Ensembl chr 1:15,542,609...15,562,063 		JBrowse link
G EMC1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:18,176,791...18,210,280
Ensembl chr 1:19,223,355...19,257,835 		JBrowse link
G ENO1 enolase 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:7,619,490...7,637,558
Ensembl chr 1:8,855,074...8,873,215 		JBrowse link
G EPHA2 EPH receptor A2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:15,259,915...15,292,983
Ensembl chr 1:16,253,513...16,284,787 		JBrowse link
G ERRFI1 ERBB receptor feedback inhibitor 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:6,771,619...6,786,217
Ensembl chr 1:8,011,848...8,033,674 		JBrowse link
G ESPN espin ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:5,184,666...5,222,473 JBrowse link
G EXOSC10 exosome component 10 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:9,829,922...9,865,092
Ensembl chr 1:11,050,727...11,087,241 		JBrowse link
G FAM131C family with sequence similarity 131 member C ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:15,195,111...15,211,000 JBrowse link
G FBLIM1 filamin binding LIM protein 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:14,898,987...14,928,887
Ensembl chr 1:15,890,600...15,921,558 		JBrowse link
G FBXO2 F-box protein 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:10,408,853...10,415,174
Ensembl chr 1:11,626,713...11,633,171 		JBrowse link
G FBXO42 F-box protein 42 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:15,383,505...15,489,800
Ensembl chr 1:16,375,319...16,481,012 		JBrowse link
G FBXO44 F-box protein 44 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar
G FBXO6 F-box protein 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:10,414,856...10,436,406
Ensembl chr 1:11,643,009...11,654,837
Ensembl chr 1:11,643,009...11,654,837
Ensembl chr 1:11,643,009...11,654,837 		JBrowse link
G FHAD1 forkhead associated phosphopeptide binding domain 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:14,374,663...14,538,696
Ensembl chr 1:15,403,965...15,529,961 		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 1:359,080...361,223 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 1:731,714...743,165
Ensembl chr 1:1,883,955...1,895,102 		JBrowse link
G GNB1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:490,415...596,826
Ensembl chr 1:1,647,340...1,701,614 		JBrowse link
G GPR153 G protein-coupled receptor 153 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:5,013,643...5,027,324 JBrowse link
G GPR157 G protein-coupled receptor 157 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:7,857,904...7,884,669
Ensembl chr 1:9,093,493...9,117,748 		JBrowse link
G H6PD hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:7,996,315...8,031,987
Ensembl chr 1:9,232,666...9,256,631 		JBrowse link
G HES2 hes family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:5,175,124...5,179,785
Ensembl chr 1:6,429,281...6,435,896 		JBrowse link
G HES3 hes family bHLH transcription factor 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:5,008,155...5,012,868
Ensembl chr 1:6,265,738...6,266,937 		JBrowse link
G HES4 hes family bHLH transcription factor 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868
G HES5 hes family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:1,261,260...1,263,128 JBrowse link
G HNRNPCL1 heterogeneous nuclear ribonucleoprotein C like 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar
G HSPB7 heat shock protein family B (small) member 7 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:15,151,471...15,156,234 JBrowse link
G HTR6 5-hydroxytryptamine receptor 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:18,619,683...18,635,822
Ensembl chr 1:19,662,978...19,678,680 		JBrowse link
G ICMT isoprenylcysteine carboxyl methyltransferase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:4,987,384...5,002,213
Ensembl chr 1:6,246,570...6,258,746 		JBrowse link
G IFFO2 intermediate filament family orphan 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:17,862,556...17,914,686 JBrowse link
G IGSF21 immunoglobin superfamily member 21 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:17,063,522...17,336,389
Ensembl chr 1:18,116,451...18,387,611 		JBrowse link
G INTS11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:66,280...81,854
Ensembl chr 1:1,266,581...1,281,430 		JBrowse link
G ISG15 ISG15 ubiquitin like modifier ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 Ensembl chr 1:927,418...928,491 JBrowse link
G KAZN kazrin, periplakin interacting protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:13,032,125...14,261,897
Ensembl chr 1:14,031,858...15,251,972 		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 1:4,755,412...4,866,424
Ensembl chr 1:6,013,072...6,120,438 		JBrowse link
G KIAA2013 KIAA2013 ortholog ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:10,669,585...10,676,372 JBrowse link
G KIF1B kinesin family member 1B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:8,969,910...9,141,964
Ensembl chr 1:10,198,997...10,364,577 		JBrowse link
G KLHDC7A kelch domain containing 7A ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:17,439,890...17,444,993
Ensembl chr 1:18,490,964...18,493,297 		JBrowse link
G KLHL17 kelch like family member 17 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 Ensembl chr 1:859,730...864,476 JBrowse link
G KLHL21 kelch like family member 21 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:5,352,020...5,364,268
Ensembl chr 1:6,604,801...6,616,890 		JBrowse link
G LOC100967961 ATPase family AAA domain-containing protein 3B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:230,464...269,069 JBrowse link
G LOC100975124 multiple epidermal growth factor-like domains protein 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:2,155,295...2,283,034 JBrowse link
G LOC100981634 aflatoxin B1 aldehyde reductase member 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:18,241,298...18,248,142
Ensembl chr 1:19,288,100...19,294,041 		JBrowse link
G LOC100986591 chloride channel protein ClC-Ka ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:15,159,362...15,171,376
Ensembl chr 1:16,152,022...16,163,777 		JBrowse link
G LOC100988064 Fanconi anemia core complex-associated protein 20 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:900,616...922,845 JBrowse link
G LOC100992916 chymotrypsin-like elastase family member 2A ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:14,595,218...14,606,322
Ensembl chr 1:15,589,878...15,604,926 		JBrowse link
G LRRC38 leucine rich repeat containing 38 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:12,618,480...12,657,328
Ensembl chr 1:13,619,399...13,657,771 		JBrowse link
G LRRC47 leucine rich repeat containing 47 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:2,451,747...2,468,043 JBrowse link
G LZIC leucine zipper and CTNNBIP1 domain containing ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:8,698,579...8,712,867
Ensembl chr 1:9,928,998...9,942,490 		JBrowse link
G MAD2L2 mitotic arrest deficient 2 like 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:10,436,532...10,454,023
Ensembl chr 1:11,654,963...11,661,526 		JBrowse link
G MASP2 MBL associated serine protease 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:9,787,565...9,810,276
Ensembl chr 1:11,009,760...11,030,734 		JBrowse link
G MFAP2 microfibril associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:15,918,209...15,924,388
Ensembl chr 1:16,975,544...17,006,022 		JBrowse link
G MFN2 mitofusin 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:10,729,933...10,764,865
Ensembl chr 1:11,945,880...11,981,077 		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 1:379,326...395,041
Ensembl chr 1:1,539,634...1,557,517 		JBrowse link
G MICOS10 mitochondrial contact site and cristae organizing system subunit 10 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:18,551,929...18,581,619
Ensembl chr 1:19,595,697...19,628,258 		JBrowse link
G MIIP migration and invasion inhibitory protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:10,770,412...10,783,414
Ensembl chr 1:11,986,808...11,999,330 		JBrowse link
G MMEL1 membrane metalloendopeptidase like 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:1,323,914...1,362,178
Ensembl chr 1:2,462,621...2,504,213 		JBrowse link
G MMP23B matrix metallopeptidase 23B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:396,629...399,103
Ensembl chr 1:1,554,922...1,557,325 		JBrowse link
G MORN1 MORN repeat containing 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:1,040,735...1,109,847
Ensembl chr 1:2,185,815...2,257,031 		JBrowse link
G MRPL20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:157,984...163,411
Ensembl chr 1:1,358,009...1,363,014 		JBrowse link
G MRTO4 MRT4 homolog, ribosome maturation factor ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:18,210,403...18,218,800
Ensembl chr 1:19,257,147...19,265,038 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419 		JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841 		JBrowse link
G MXRA8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:109,071...117,378 JBrowse link
G NADK NAD kinase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:462,860...485,203
Ensembl chr 1:1,619,270...1,642,269 		JBrowse link
G NBL1 NBL1, DAN family BMP antagonist ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:18,599,121...18,613,305
Ensembl chr 1:19,641,279...19,656,431 		JBrowse link
G NECAP2 NECAP endocytosis associated 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:15,578,444...15,597,823
Ensembl chr 1:16,568,847...16,588,213 		JBrowse link
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:8,712,798...8,753,027
Ensembl chr 1:9,942,491...9,982,364 		JBrowse link
G NOC2L NOC2 like nucleolar associated transcriptional repressor ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 Ensembl chr 1:843,551...857,535 JBrowse link
G NOL9 nucleolar protein 9 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:5,283,518...5,317,431
Ensembl chr 1:6,541,712...6,571,463 		JBrowse link
G NPHP4 nephrocystin 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:4,620,593...4,756,363
Ensembl chr 1:5,878,739...6,012,864 		JBrowse link
G NPPA natriuretic peptide A ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:10,608,025...10,610,287
Ensembl chr 1:11,825,072...11,827,373 		JBrowse link
G NPPB natriuretic peptide B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:10,621,416...10,622,960
Ensembl chr 1:11,838,518...11,839,995 		JBrowse link
G OTUD3 OTU deubiquitinase 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:18,836,697...18,867,568
Ensembl chr 1:19,880,667...19,905,857 		JBrowse link
G PADI1 peptidyl arginine deiminase 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:16,150,407...16,190,901
Ensembl chr 1:17,205,452...17,245,972 		JBrowse link
G PADI2 peptidyl arginine deiminase 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:16,011,708...16,064,344
Ensembl chr 1:17,067,729...17,120,513 		JBrowse link
G PADI3 peptidyl arginine deiminase 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:16,193,461...16,228,942
Ensembl chr 1:17,249,084...17,283,926 		JBrowse link
G PADI4 peptidyl arginine deiminase 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:16,255,680...16,311,256
Ensembl chr 1:17,311,436...17,365,426 		JBrowse link
G PADI6 peptidyl arginine deiminase 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:16,319,457...16,348,683
Ensembl chr 1:17,373,869...17,404,346 		JBrowse link
G PANK4 pantothenate kinase 4 (inactive) ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:1,238,821...1,259,139
Ensembl chr 1:2,378,116...2,395,738 		JBrowse link
G PARK7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:6,722,260...6,745,915
Ensembl chr 1:7,969,280...7,993,271 		JBrowse link
G PAX7 paired box 7 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:17,589,513...17,707,442
Ensembl chr 1:18,639,641...18,756,952 		JBrowse link
G PDPN podoplanin ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:12,728,569...12,759,781
Ensembl chr 1:13,728,233...13,759,584 		JBrowse link
G PER3 period circadian regulator 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:6,547,667...6,607,905
Ensembl chr 1:7,795,552...7,855,922 		JBrowse link
G PERM1 PPARGC1 and ESRR induced regulator, muscle 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 Ensembl chr 1:875,161...880,042 JBrowse link
G PEX10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar Ensembl chr 1:2,270,698...2,278,401 JBrowse link
G PEX14 peroxisomal biogenesis factor 14 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:9,234,928...9,391,086
Ensembl chr 1:10,459,884...10,614,187 		JBrowse link
G PHF13 PHD finger protein 13 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:5,377,740...5,388,024
Ensembl chr 1:6,631,621...6,639,972 		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 1:8,418,570...8,495,435
Ensembl chr 1:9,686,208...9,724,633 		JBrowse link
G PLA2G2A phospholipase A2 group IIA ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:18,930,294...18,934,563
Ensembl chr 1:19,971,084...19,977,627 		JBrowse link
G PLA2G2C phospholipase A2 group IIC ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:19,118,341...19,142,668
Ensembl chr 1:20,161,553...20,176,092 		JBrowse link
G PLA2G2D phospholipase A2 group IID ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:19,066,890...19,074,711
Ensembl chr 1:20,110,323...20,117,618 		JBrowse link
G PLA2G2E phospholipase A2 group IIE ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:18,874,301...18,878,218
Ensembl chr 1:19,918,391...19,921,639 		JBrowse link
G PLA2G2F phospholipase A2 group IIF ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:19,094,401...19,105,920
Ensembl chr 1:20,138,042...20,149,099 		JBrowse link
G PLA2G5 phospholipase A2 group V ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:18,983,104...19,046,834
Ensembl chr 1:20,068,110...20,089,840 		JBrowse link
G PLCH2 phospholipase C eta 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:1,171,623...1,235,592
Ensembl chr 1:2,337,005...2,374,695 		JBrowse link
G PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:5,228,681...5,259,554
Ensembl chr 1:6,481,782...6,535,643 		JBrowse link
G PLEKHM2 pleckstrin homology and RUN domain containing M2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:14,826,604...14,877,142
Ensembl chr 1:15,846,673...15,869,327 		JBrowse link
G PLEKHN1 pleckstrin homology domain containing N1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 Ensembl chr 1:865,290...873,575 JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:10,684,608...10,725,376
Ensembl chr 1:11,900,881...11,941,308 		JBrowse link
G PRAMEF12 PRAME family member 12 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:11,525,455...11,529,625 JBrowse link
G PRAMEF20 PRAME family member 20 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:12,006,813...12,010,964
Ensembl chr 1:13,553,798...13,564,608 		JBrowse link
G PRAMEF7 PRAME family member 7 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar Ensembl chr 1:12,738,481...12,742,606 JBrowse link
G PRDM16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:1,730,122...2,100,636
Ensembl chr 1:2,981,667...3,234,251 		JBrowse link
G PRDM2 PR/SET domain 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:12,838,201...12,963,735
Ensembl chr 1:13,853,895...13,961,610
Ensembl chr 1:13,853,895...13,961,610 		JBrowse link
G PRKCZ protein kinase C zeta ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:763,942...901,531
Ensembl chr 1:1,920,219...2,045,855 		JBrowse link
G PRXL2B peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:1,319,718...1,324,409 JBrowse link
G PUSL1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:63,263...66,360
Ensembl chr 1:1,263,656...1,266,661 		JBrowse link
G RBP7 retinol binding protein 7 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:8,765,097...8,793,303
Ensembl chr 1:9,995,480...10,015,093 		JBrowse link
G RCC2 regulator of chromosome condensation 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:16,353,770...16,386,810
Ensembl chr 1:17,409,432...17,432,031 		JBrowse link
G RER1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar Ensembl chr 1:2,257,091...2,271,311 JBrowse link
G RERE arginine-glutamic acid dipeptide repeats ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:7,111,594...7,576,667
Ensembl chr 1:8,351,367...8,648,973 		JBrowse link
G RNF186 ring finger protein 186 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:18,770,083...18,772,399
Ensembl chr 1:19,813,784...19,814,467 		JBrowse link
G RNF207 ring finger protein 207 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:4,972,787...4,986,992
Ensembl chr 1:6,229,241...6,242,770 		JBrowse link
G RNF223 ring finger protein 223 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868
G RPL22 ribosomal protein L22 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:4,952,104...4,966,761
Ensembl chr 1:6,207,507...6,219,947 		JBrowse link
G RSC1A1 regulator of solute carriers 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar
G SAMD11 sterile alpha motif domain containing 11 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868
G SCNN1D sodium channel epithelial 1 subunit delta ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr 1:35,437...46,538
Ensembl chr 1:1,238,512...1,247,649 		JBrowse link
G SDF4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868
G SDHB succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:15,962,383...15,998,056
Ensembl chr 1:17,018,542...17,054,509 		JBrowse link
G SKI SKI proto-oncogene ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr 1:944,428...1,029,695
Ensembl chr 1:2,091,620...2,174,080