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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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16Q24.3 Microdeletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACSF3 acyl-CoA synthetase family member 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:74,464,357...74,526,173
Ensembl chr 5:74,464,651...74,525,660 		JBrowse link
G ANKRD11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:74,630,108...74,682,232
Ensembl chr 5:74,628,310...74,682,232 		JBrowse link
G APRT adenine phosphoribosyltransferase ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:74,196,858...74,199,789
Ensembl chr 5:74,194,013...74,199,891 		JBrowse link
G BANP BTG3 associated nuclear protein ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:73,341,241...73,466,636
Ensembl chr 5:73,341,729...73,466,949 		JBrowse link
G CA5A carbonic anhydrase 5A ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:73,284,536...73,333,629 JBrowse link
G CBFA2T3 CBFA2/RUNX1 partner transcriptional co-repressor 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:74,260,516...74,361,268
Ensembl chr 5:74,263,375...74,289,875 		JBrowse link
G CDH15 cadherin 15 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:74,542,174...74,563,753
Ensembl chr 5:74,550,637...74,563,850 		JBrowse link
G CDT1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:74,190,409...74,196,589
Ensembl chr 5:74,190,947...74,195,972 		JBrowse link
G CPNE7 copine 7 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:74,937,985...74,953,406 JBrowse link
G CTU2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:74,091,156...74,100,941
Ensembl chr 5:74,091,258...74,100,573 		JBrowse link
G CUNH16orf95 chromosome unknown C16orf95 homolog ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:72,508,773...72,685,057 JBrowse link
G FBXO31 F-box protein 31 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:72,696,868...72,752,480
Ensembl chr 5:72,701,136...72,752,989 		JBrowse link
G IL17C interleukin 17C ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:74,019,253...74,021,530
Ensembl chr 5:74,019,253...74,020,344 		JBrowse link
G JPH3 junctophilin 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:72,972,373...73,095,710
Ensembl chr 5:72,972,361...73,094,231 		JBrowse link
G KLHDC4 kelch domain containing 4 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:73,104,421...73,160,058
Ensembl chr 5:73,104,980...73,160,041 		JBrowse link
G LOC103233451 cytochrome b-245 light chain ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:74,023,134...74,030,793
Ensembl chr 5:74,023,082...74,030,750 		JBrowse link
G LOC103233459 trafficking protein particle complex subunit 2-like protein ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:74,243,395...74,248,579
Ensembl chr 5:74,243,405...74,247,598 		JBrowse link
G LOC103233460 N-acetylgalactosamine-6-sulfatase ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:74,201,468...74,243,478 JBrowse link
G MAP1LC3B microtubule associated protein 1 light chain 3 beta ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:72,762,428...72,774,204
Ensembl chr 5:72,763,050...72,772,770 		JBrowse link
G MVD mevalonate diphosphate decarboxylase ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:74,031,470...74,049,066
Ensembl chr 5:74,031,316...74,049,011 		JBrowse link
G PABPN1L PABPN1 like, cytoplasmic ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:74,251,084...74,256,543
Ensembl chr 5:74,252,703...74,255,857 		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 chr 5:74,100,675...74,167,194
Ensembl chr 5:74,100,929...74,134,167 		JBrowse link
G RNF166 ring finger protein 166 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:74,080,605...74,091,114
Ensembl chr 5:74,081,203...74,091,018 		JBrowse link
G RPL13 ribosomal protein L13 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:74,918,926...74,921,402 JBrowse link
G SLC22A31 solute carrier family 22 member 31 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:74,564,030...74,569,826 JBrowse link
G SLC7A5 solute carrier family 7 member 5 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:73,229,953...73,269,801
Ensembl chr 5:73,229,951...73,269,754 		JBrowse link
G SNAI3 snail family transcriptional repressor 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:74,062,241...74,071,840 JBrowse link
G ZC3H18 zinc finger CCCH-type containing 18 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:73,944,502...74,010,379
Ensembl chr 5:73,944,574...74,009,714 		JBrowse link
G ZCCHC14 zinc finger CCHC-type containing 14 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:72,776,249...72,863,957
Ensembl chr 5:72,780,300...72,863,860 		JBrowse link
G ZFPM1 zinc finger protein, FOG family member 1 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:73,832,527...73,909,231
Ensembl chr 5:73,864,461...73,909,049 		JBrowse link
G ZNF469 zinc finger protein 469 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:73,762,456...73,820,262 JBrowse link
G ZNF778 zinc finger protein 778 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 5:74,583,488...74,595,533
Ensembl chr 5:74,589,788...74,595,135 		JBrowse link
1q24 Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABL2 ABL proto-oncogene 2, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr25:50,106,621...50,244,002
Ensembl chr25:50,216,483...50,241,621 		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 chr25:48,884,818...49,089,557
Ensembl chr25:48,885,434...49,090,615 		JBrowse link
G ANGPTL1 angiopoietin like 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr25:50,468,283...50,489,283
Ensembl chr25:50,468,826...50,490,343 		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 chr25:55,525,068...55,584,488
Ensembl chr25:55,535,206...55,588,422 		JBrowse link
G ASTN1 astrotactin 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr25:52,110,983...52,416,743
Ensembl chr25:52,110,880...52,413,554 		JBrowse link
G ATP1B1 ATPase Na+/K+ transporting subunit beta 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr25:59,898,745...59,925,166
Ensembl chr25:59,895,341...59,925,522 		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 chr25:49,807,102...49,988,152 JBrowse link
G BLZF1 basic leucine zipper nuclear factor 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr25:59,665,035...59,685,304
Ensembl chr25:59,664,280...59,685,376 		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 chr25:51,993,095...52,114,569
Ensembl chr25:51,993,135...52,105,212 		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 chr25:47,589,859...47,924,081
Ensembl chr25:47,597,808...47,922,969 		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 chr25:54,246,331...54,258,273
Ensembl chr25:54,247,057...54,257,660 		JBrowse link
G CCDC181 coiled-coil domain containing 181 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr25:59,624,426...59,658,597
Ensembl chr25:59,626,896...59,658,421 		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 chr25:55,361,946...55,394,091
Ensembl chr25:55,379,756...55,393,734 		JBrowse link
G CEP350 centrosomal protein 350 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr25:49,262,577...49,421,013
Ensembl chr25:49,266,261...49,420,348 		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 chr25:53,057,479...53,316,662
Ensembl chr25:53,057,784...53,314,398 		JBrowse link
G CUNH1orf105 chromosome unknown C1orf105 homolog ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr25:56,686,755...56,735,766 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 chr25:55,334,669...55,367,257
Ensembl chr25:55,332,340...55,367,248 		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 chr25:46,485,602...46,534,046
Ensembl chr25:46,485,427...46,518,406 		JBrowse link
G DNM3 dynamin 3 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr25:56,735,877...57,285,557
Ensembl chr25:56,746,215...57,285,498 		JBrowse link
G F5 coagulation factor V ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr25:59,465,610...59,539,022
Ensembl chr25:59,466,378...59,538,872 		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 chr25:49,557,621...49,638,984
Ensembl chr25:49,557,548...49,558,635 		JBrowse link
G FAM20B FAM20B glycosaminoglycan xylosylkinase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr25:50,276,015...50,321,567
Ensembl chr25:50,272,414...50,304,471 		JBrowse link
G FASLG Fas ligand ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr25:56,488,572...56,496,469
Ensembl chr25:56,489,417...56,496,251 		JBrowse link
G FIRRM FIGNL1 interacting regulator of recombination and mitosis ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr25:59,199,252...59,257,760
Ensembl chr25:59,199,316...59,257,670 		JBrowse link
G FMO1 flavin containing dimethylaniline monoxygenase 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr25:57,781,273...57,819,787
Ensembl chr25:57,782,085...57,819,408 		JBrowse link
G FMO2 flavin containing dimethylaniline monoxygenase 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr25:57,869,866...57,892,359
Ensembl chr25:57,866,555...57,892,193 		JBrowse link
G FMO3 flavin containing dimethylaniline monoxygenase 3 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr25:57,971,737...57,995,850
Ensembl chr25:57,969,234...57,995,613 		JBrowse link
G FMO4 flavin containing dimethylaniline monoxygenase 4 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr25:57,729,381...57,755,940
Ensembl chr25:57,728,614...57,755,259 		JBrowse link
G GLUL glutamate-ammonia ligase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr25:46,988,853...46,998,112
Ensembl chr25:46,989,205...47,000,555 		JBrowse link
G GORAB golgin, RAB6 interacting ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr25:58,528,062...58,549,981
Ensembl chr25:58,527,947...58,549,891 		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 chr25:54,757,376...54,758,761 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 chr25:48,314,925...48,317,249
Ensembl chr25:48,315,871...48,316,854 		JBrowse link
G KIAA0040 KIAA0040 ortholog ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr25:54,063,776...54,098,518
Ensembl chr25:54,095,097...54,095,387 		JBrowse link
G KIAA1614 KIAA1614 ortholog ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr25:48,456,242...48,490,005
Ensembl chr25:48,457,523...48,489,689 		JBrowse link
G KIFAP3 kinesin associated protein 3 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr25:58,983,180...59,130,431
Ensembl chr25:58,983,207...59,130,074 		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 chr25:55,407,648...55,473,195
Ensembl chr25:55,405,713...55,473,175 		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 chr25:46,233,409...46,354,060
Ensembl chr25:46,231,780...46,353,557 		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 chr25:46,133,079...46,199,960
Ensembl chr25:46,131,827...46,199,753 		JBrowse link
G LHX4 LIM homeobox 4 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr25:49,102,819...49,148,193
Ensembl chr25:49,103,349...49,147,752 		JBrowse link
G LOC103230506 torsin-1A-interacting protein 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr25:49,496,515...49,532,881
Ensembl chr25:49,509,484...49,530,723 		JBrowse link
G LOC103230534 protein transport protein Sec16B ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr25:51,309,875...51,379,187
Ensembl chr25:51,332,937...51,380,520 		JBrowse link
G LOC103230557 roquin-1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr25:55,167,418...55,258,964
Ensembl chr25:55,167,077...55,279,088 		JBrowse link
G METTL13 methyltransferase 13, eEF1A N-terminus and K55 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr25:57,323,818...57,344,501
Ensembl chr25:57,329,301...57,344,867 		JBrowse link
G METTL18 methyltransferase 18, RPL3 N3(tau)-histidine ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr25:59,257,843...59,261,129
Ensembl chr25:59,259,130...59,260,248 		JBrowse link
G MROH9 maestro heat like repeat family member 9 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr25:58,019,372...58,150,474
Ensembl chr25:58,087,764...58,129,094 		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 chr25:54,231,605...54,240,724
Ensembl chr25:54,231,643...54,240,472 		JBrowse link
G MYOC myocilin ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr25:57,458,615...57,475,329
Ensembl chr25:57,459,374...57,475,322 		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 chr25:45,770,370...45,807,064
Ensembl chr25:45,770,641...45,806,515 		JBrowse link
G NME7 NME/NM23 family member 7 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr25:59,685,437...59,899,458
Ensembl chr25:59,685,531...59,898,677 		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 chr25:45,954,934...46,130,106
Ensembl chr25:45,954,862...46,125,378 		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 chr25:49,786,126...49,804,917 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 chr25:46,543,645...46,582,700
Ensembl chr25:46,541,401...46,581,767 		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 chr25:58,898,029...58,919,835
Ensembl chr25:58,898,262...58,919,292 		JBrowse link
G PAPPA2 pappalysin 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr25:52,432,178...52,729,671 JBrowse link
G PIGC phosphatidylinositol glycan anchor biosynthesis class C ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr25:56,711,459...56,714,109
Ensembl chr25:56,712,941...56,713,834 		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 chr25:55,706,920...55,719,196
Ensembl chr25:55,706,885...55,718,665 		JBrowse link
G PRRC2C proline rich coiled-coil 2C ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr25:57,509,935...57,608,849 JBrowse link
G PRRX1 paired related homeobox 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr25:58,347,686...58,423,454
Ensembl chr25:58,347,704...58,421,980 		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 chr25:49,180,365...49,223,814
Ensembl chr25:49,181,365...49,223,741 		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 chr25:54,265,906...55,034,061 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 chr25:50,419,505...50,601,821
Ensembl chr25:50,424,998...50,601,673 		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 chr25:50,838,985...51,211,683
Ensembl chr25:50,840,184...50,941,942 		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 chr25:46,764,097...46,769,895
Ensembl chr25:46,764,134...46,769,896 		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 chr25:46,683,978...46,724,205
Ensembl chr25:46,683,783...46,726,543 		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 chr25:46,813,422...46,921,057
Ensembl chr25:46,819,410...46,915,475 		JBrowse link
G RNASEL ribonuclease L ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr25:46,779,221...46,795,854
Ensembl chr25:46,779,700...46,795,842 		JBrowse link
G SCYL3 SCY1 like pseudokinase 3 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr25:59,157,208...59,215,074
Ensembl chr25:59,156,992...59,198,614 		JBrowse link
G SELE selectin E ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr25:59,305,610...59,333,789
Ensembl chr25:59,322,913...59,330,668 		JBrowse link
G SELL selectin L ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr25:59,345,080...59,365,684
Ensembl chr25:59,345,069...59,366,946 		JBrowse link
G SELP selectin P ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr25:59,420,910...59,465,140
Ensembl chr25:59,433,333...59,462,598 		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 chr25:55,271,823...55,289,855 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 chr25:46,424,943...46,473,336
Ensembl chr25:46,426,312...46,473,218 		JBrowse link
G SLC19A2 solute carrier family 19 member 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr25:59,568,801...59,587,398
Ensembl chr25:59,568,893...59,585,094 		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 chr25:55,599,427...55,695,763
Ensembl chr25:55,601,011...55,693,207 		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 chr25:45,808,384...45,895,605
Ensembl chr25:45,805,689...45,866,852 		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 chr25:49,998,197...50,061,433
Ensembl chr25:50,001,910...50,061,173 		JBrowse link
G STX6 syntaxin 6 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr25:48,380,359...48,427,279
Ensembl chr25:48,397,712...48,426,676 		JBrowse link
G SUCO SUN domain containing ossification factor ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr25:56,541,074...56,623,086
Ensembl chr25:56,541,038...56,623,201 		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 chr25:49,676,952...49,771,381
Ensembl chr25:49,677,283...49,769,442 		JBrowse link
G TEX35 testis expressed 35 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr25:50,791,104...50,800,331
Ensembl chr25:50,791,104...50,800,309 		JBrowse link
G TNFSF18 TNF superfamily member 18 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr25:56,105,757...56,118,249
Ensembl chr25:56,106,584...56,118,758 		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 chr25:55,714,291...55,998,009
Ensembl chr25:55,974,691...55,997,374 		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 chr25:54,107,304...54,231,578
Ensembl chr25:54,108,039...54,178,478 		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 chr25:53,526,477...53,942,278 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 chr25:49,454,642...49,492,903
Ensembl chr25:49,452,289...49,491,525 		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 chr25:50,252,705...50,268,321
Ensembl chr25:50,250,423...50,266,917 		JBrowse link
G VAMP4 vesicle associated membrane protein 4 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr25:57,381,143...57,421,886
Ensembl chr25:57,384,757...57,421,893 		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 chr25:48,509,854...48,756,479
Ensembl chr25:48,517,525...48,756,458 		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 chr25:55,304,954...55,323,670
Ensembl chr25:55,306,282...55,323,162 		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 chr25:47,333,684...47,340,681
Ensembl chr25:47,338,005...47,339,702 		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 chr 9:94,797,157...94,803,725
Ensembl chr 9:94,798,088...94,803,629 		JBrowse link
G SIX1 SIX homeobox 1 ISO RGD PMID:21364285 RGD:11561941 NCBI chr24:37,840,399...37,855,801
Ensembl chr24:37,840,309...37,845,192 		JBrowse link
G TBX1 T-box transcription factor 1 ISO RGD PMID:16452092 RGD:155663362 NCBI chr19:5,980,114...5,986,313
Ensembl chr19:5,980,587...5,987,244 		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 chr15:60,492,121...60,681,487
Ensembl chr15:60,491,029...60,617,911 		JBrowse link
G BTD biotinidase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr15:60,433,035...60,470,600
Ensembl chr15:60,459,913...60,470,615 		JBrowse link
G CAPN7 calpain 7 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr15:60,050,488...60,096,369
Ensembl chr15:60,050,606...60,095,330 		JBrowse link
G CCDC174 coiled-coil domain containing 174 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr22:50,595,136...50,616,165
Ensembl chr22:50,595,175...50,614,691 		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 chr22:50,055,130...50,067,917
Ensembl chr22:50,054,007...50,067,940 		JBrowse link
G COLQ collagen like tail subunit of asymmetric acetylcholinesterase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr15:60,284,557...60,395,745 JBrowse link
G CUNH3orf20 chromosome unknown C3orf20 homolog ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr22:50,625,471...50,707,021
Ensembl chr22:50,626,334...50,707,023 		JBrowse link
G DAZL deleted in azoospermia like ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr15:61,398,284...61,413,222
Ensembl chr15:61,398,400...61,407,054 		JBrowse link
G DPH3 diphthamide biosynthesis 3 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr15:61,103,247...61,111,114
Ensembl chr15:61,103,102...61,111,115 		JBrowse link
G EAF1 ELL associated factor 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr15:60,261,013...60,277,177
Ensembl chr15:60,260,967...60,277,626 		JBrowse link
G EFHB EF-hand domain family member B ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr15:64,608,440...64,679,276
Ensembl chr15:64,608,604...64,661,298 		JBrowse link
G FBLN2 fibulin 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr22:49,540,316...49,630,380
Ensembl chr22:49,564,822...49,630,409 		JBrowse link
G FGD5 FYVE, RhoGEF and PH domain containing 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr22:50,746,210...50,868,659
Ensembl chr22:50,746,303...50,870,049 		JBrowse link
G GALNT15 polypeptide N-acetylgalactosaminyltransferase 15 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr15:61,022,733...61,078,748
Ensembl chr15:61,023,741...61,073,958 		JBrowse link
G GRIP2 glutamate receptor interacting protein 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr22:50,429,351...50,546,403
Ensembl chr22:50,433,405...50,468,769 		JBrowse link
G HACL1 2-hydroxyacyl-CoA lyase 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr15:60,360,380...60,433,528
Ensembl chr15:60,322,722...60,433,647 		JBrowse link
G HDAC11 histone deacetylase 11 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr22:49,470,443...49,497,692
Ensembl chr22:49,471,368...49,498,178 		JBrowse link
G KAT2B lysine acetyltransferase 2B ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr15:64,769,590...64,885,536
Ensembl chr15:64,770,185...64,886,219 		JBrowse link
G KCNH8 potassium voltage-gated channel subfamily H member 8 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr15:63,954,331...64,334,300 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 chr22:50,121,674...50,141,071 JBrowse link
G METTL6 methyltransferase 6, tRNA N3-cytidine ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr15:60,219,348...60,261,030
Ensembl chr15:60,245,126...60,259,957 		JBrowse link
G MRPS25 mitochondrial ribosomal protein S25 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr22:50,985,398...50,997,596
Ensembl chr22:50,984,775...50,997,581 		JBrowse link
G NR2C2 nuclear receptor subfamily 2 group C member 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr22:50,882,569...50,983,851
Ensembl chr22:50,894,802...50,977,581 		JBrowse link
G NUP210 nucleoporin 210 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr22:49,299,689...49,409,508 JBrowse link
G OXNAD1 oxidoreductase NAD binding domain containing 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr15:61,111,355...61,148,582 JBrowse link
G PLCL2 phospholipase C like 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr15:61,745,338...61,940,176
Ensembl chr15:61,745,163...61,942,655 		JBrowse link
G PP2D1 protein phosphatase 2C like domain containing 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr15:64,715,191...64,741,586 JBrowse link
G RAB5A RAB5A, member RAS oncogene family ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr15:64,678,910...64,715,228
Ensembl chr15:64,682,723...64,713,928 		JBrowse link
G RBSN rabenosyn, RAB effector ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr22:51,004,739...51,031,379
Ensembl chr22:51,002,196...51,028,955 		JBrowse link
G RFTN1 raftlin, lipid raft linker 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr15:61,159,573...61,290,342
Ensembl chr15:61,159,930...61,289,965 		JBrowse link
G SATB1 SATB homeobox 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr15:63,163,989...63,263,122
Ensembl chr15:63,170,243...63,263,149 		JBrowse link
G SETD5 SET domain containing 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:21681106 NCBI chr22:45,391,871...45,475,183
Ensembl chr22:45,430,660...45,475,217 		JBrowse link
G SH3BP5 SH3 domain binding protein 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr15:60,098,901...60,175,421
Ensembl chr15:60,100,132...60,175,349 		JBrowse link
G SLC6A6 solute carrier family 6 member 6 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr22:50,344,781...50,431,765
Ensembl chr22:50,344,805...50,431,766 		JBrowse link
G TBC1D5 TBC1 domain family member 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr15:62,009,952...62,569,187
Ensembl chr15:62,006,701...62,358,449 		JBrowse link
G THUMPD3 THUMP domain 3 tRNA guanosine methyltransferase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:21681106 NCBI chr22:45,355,889...45,378,134
Ensembl chr22:45,355,579...45,377,941 		JBrowse link
G TMEM43 transmembrane protein 43 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr22:50,068,053...50,085,094
Ensembl chr22:50,068,095...50,086,648 		JBrowse link
G WNT7A Wnt family member 7A ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr22:49,805,415...49,863,115
Ensembl chr22:49,805,463...49,862,830 		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 chr22:50,088,019...50,121,584
Ensembl chr22:50,085,353...50,121,542 		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
OMIM		 PMID:6620326 PMID:22051515 PMID:25604083 NCBI chr16:49,519,749...49,523,967
Ensembl chr16:49,518,185...49,523,898 		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 chr12:78,551,312...78,679,517 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 chr25:81,077,011...81,085,049 JBrowse link
chromosome 10q23 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPR1A bone morphogenetic protein receptor type 1A ISO OMIM:612242 MouseDO NCBI chr 9:44,944,463...45,108,832
Ensembl chr 9:44,941,460...45,027,275 		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:25741868 PMID:28492532 NCBI chr 1:33,419,313...33,679,046
Ensembl chr 1:33,421,038...33,678,990 		JBrowse link
G PAX6 paired box 6 ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar PMID:9727514 PMID:10234503 PMID:12634864 PMID:12868034 PMID:15086958 More... NCBI chr 1:33,386,165...33,414,605
Ensembl chr 1:33,392,970...33,414,587 		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:1658787 More... NCBI chr 1:32,750,300...32,801,832 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 chr 3:56,037,628...56,048,509
Ensembl chr 3:56,042,149...56,047,680 		JBrowse link
G ALG11 ALG11 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:29,899,345...29,920,805
Ensembl chr 3:29,899,441...29,915,860 		JBrowse link
G ARL11 ARF like GTPase 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:27,544,990...27,550,306
Ensembl chr 3:27,547,359...27,547,949 		JBrowse link
G ATP7B ATPase copper transporting beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:29,817,712...29,899,302
Ensembl chr 3:29,816,860...29,899,077 		JBrowse link
G BORA BORA aurora kinase A activator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:51,860,304...51,888,410
Ensembl chr 3:51,860,405...51,887,416 		JBrowse link
G CAB39L calcium binding protein 39 like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:27,226,012...27,314,413
Ensembl chr 3:27,225,946...27,314,318 		JBrowse link
G CCDC70 coiled-coil domain containing 70 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:29,745,345...29,749,711
Ensembl chr 3:29,748,861...29,749,559 		JBrowse link
G CDADC1 cytidine and dCMP deaminase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:27,165,870...27,212,179
Ensembl chr 3:27,177,026...27,212,171 		JBrowse link
G CKAP2 cytoskeleton associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:30,086,068...30,107,491
Ensembl chr 3:30,086,073...30,107,463 		JBrowse link
G CLN5 CLN5 intracellular trafficking protein ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:56,074,701...56,086,433
Ensembl chr 3:56,076,226...56,086,963 		JBrowse link
G CNMD chondromodulin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:30,465,771...30,502,358
Ensembl chr 3:30,466,087...30,501,550 		JBrowse link
G COMMD6 COMM domain containing 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:54,625,390...54,636,201
Ensembl chr 3:54,623,834...54,636,262 		JBrowse link
G CUNH13orf42 chromosome unknown C13orf42 homolog ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:28,960,806...28,991,668 JBrowse link
G CYSLTR2 cysteinyl leukotriene receptor 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:26,578,248...26,624,364 JBrowse link
G DACH1 dachshund family transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:50,591,136...51,020,042 JBrowse link
G DHRS12 dehydrogenase/reductase 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:29,648,522...29,683,177 JBrowse link
G DIAPH3 diaphanous related formin 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:37,455,326...37,951,237 JBrowse link
G DIS3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:51,890,033...51,916,628
Ensembl chr 3:51,888,707...51,916,643 		JBrowse link
G DLEU7 deleted in lymphocytic leukemia 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:28,606,670...28,731,551
Ensembl chr 3:28,710,019...28,731,258 		JBrowse link
G EBPL EBP like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:27,576,087...27,606,770
Ensembl chr 3:27,576,329...27,606,684 		JBrowse link
G EDNRB endothelin receptor type B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:56,969,493...56,993,719
Ensembl chr 3:56,969,101...56,992,731 		JBrowse link
G FAM124A family with sequence similarity 124 member A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:29,107,009...29,168,154 JBrowse link
G FBXL3 F-box and leucine rich repeat protein 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:56,089,147...56,111,472
Ensembl chr 3:56,088,938...56,105,977 		JBrowse link
G FNDC3A fibronectin type III domain containing 3A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:26,902,353...27,121,248
Ensembl chr 3:26,902,353...27,121,008 		JBrowse link
G HNRNPA1L2 heterogeneous nuclear ribonucleoprotein A1 like 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:29,547,847...29,549,047
Ensembl chr 3:29,548,013...29,548,972 		JBrowse link
G INTS6 integrator complex subunit 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:29,250,059...29,341,933
Ensembl chr 3:29,253,152...29,341,933 		JBrowse link
G ITM2B integral membrane protein 2B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:26,149,429...26,178,172
Ensembl chr 3:26,149,379...26,177,622 		JBrowse link
G KCNRG potassium channel regulator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:27,926,469...27,932,895 JBrowse link
G KCTD12 potassium channel tetramerization domain containing 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:55,970,438...55,973,640
Ensembl chr 3:55,972,438...55,973,415 		JBrowse link
G KLF12 KLF transcription factor 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:52,817,588...53,153,414 JBrowse link
G KLF5 KLF transcription factor 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:52,188,139...52,210,882 JBrowse link
G KLHL1 kelch like family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:48,812,816...49,237,894
Ensembl chr 3:48,812,845...49,086,381 		JBrowse link
G KPNA3 karyopherin subunit alpha 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:27,615,040...27,711,287
Ensembl chr 3:27,614,983...27,711,358 		JBrowse link
G LMO7 LIM domain 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:54,647,783...54,954,970
Ensembl chr 3:54,736,294...54,957,721 		JBrowse link
G LPAR6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:26,332,770...26,335,289
Ensembl chr 3:26,333,023...26,334,054 		JBrowse link
G MED4 mediator complex subunit 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:25,990,203...26,009,472
Ensembl chr 3:25,990,159...26,009,438 		JBrowse link
G MLNR motilin receptor ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:27,133,375...27,136,583
Ensembl chr 3:27,134,113...27,136,141 		JBrowse link
G MYCBP2 MYC binding protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:56,128,691...56,412,854
Ensembl chr 3:56,128,428...56,412,923 		JBrowse link
G MZT1 mitotic spindle organizing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:51,840,354...51,860,248
Ensembl chr 3:51,842,167...51,860,164 		JBrowse link
G NDFIP2 Nedd4 family interacting protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:58,534,898...58,606,555
Ensembl chr 3:58,534,973...58,601,812 		JBrowse link
G NEK3 NIMA related kinase 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:30,018,641...30,048,787
Ensembl chr 3:30,018,635...30,045,216 		JBrowse link
G NEK5 NIMA related kinase 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:29,950,605...30,015,114
Ensembl chr 3:29,951,153...30,013,658 		JBrowse link
G NUDT15 nudix hydrolase 15 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:25,966,148...25,974,143
Ensembl chr 3:25,966,876...25,973,647 		JBrowse link
G OBI1 ORC ubiquitin ligase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:57,683,989...57,726,851
Ensembl chr 3:57,683,746...57,726,750 		JBrowse link
G OLFM4 olfactomedin 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:30,753,677...30,810,980
Ensembl chr 3:30,787,999...30,810,980 		JBrowse link
G PCDH17 protocadherin 17 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:35,423,998...35,518,776
Ensembl chr 3:35,426,230...35,519,023 		JBrowse link
G PCDH20 protocadherin 20 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:39,182,981...39,190,128
Ensembl chr 3:39,185,301...39,189,206 		JBrowse link
G PCDH8 protocadherin 8 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:30,602,449...30,610,656
Ensembl chr 3:30,602,321...30,606,926 		JBrowse link
G PCDH9 protocadherin 9 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:45,256,171...46,194,724 JBrowse link
G PHF11 PHD finger protein 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:27,414,664...27,448,814
Ensembl chr 3:27,414,361...27,451,009 		JBrowse link
G PIBF1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:51,916,787...52,153,018 JBrowse link
G POU4F1 POU class 4 homeobox 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:57,667,248...57,673,071 JBrowse link
G RB1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:26,220,783...26,393,671
Ensembl chr 3:26,220,803...26,394,546 		JBrowse link
G RBM26 RNA binding motif protein 26 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:58,366,214...58,457,989
Ensembl chr 3:58,371,352...58,457,535 		JBrowse link
G RCBTB1 RCC1 and BTB domain containing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:27,451,687...27,505,866
Ensembl chr 3:27,451,182...27,506,013 		JBrowse link
G RCBTB2 RCC1 and BTB domain containing protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:26,401,787...26,447,315
Ensembl chr 3:26,401,786...26,437,619 		JBrowse link
G RNASEH2B ribonuclease H2 subunit B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:28,791,490...28,856,542
Ensembl chr 3:28,791,748...28,841,733 		JBrowse link
G SCEL sciellin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:56,473,748...56,733,336
Ensembl chr 3:56,621,817...56,730,830 		JBrowse link
G SERPINE3 serpin family E member 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:29,227,812...29,251,219
Ensembl chr 3:29,228,049...29,249,397 		JBrowse link
G SETDB2 SET domain bifurcated histone lysine methyltransferase 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:27,359,571...27,410,910
Ensembl chr 3:27,360,150...27,411,466 		JBrowse link
G SLAIN1 SLAIN motif family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:56,774,381...56,840,862
Ensembl chr 3:56,774,157...56,839,851 		JBrowse link
G SLITRK1 SLIT and NTRK like family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:62,912,035...62,917,774
Ensembl chr 3:62,914,244...62,916,331 		JBrowse link
G SLITRK6 SLIT and NTRK like family member 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:64,808,716...64,822,519
Ensembl chr 3:64,809,920...64,812,442 		JBrowse link
G SPRY2 sprouty RTK signaling antagonist 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:59,357,611...59,362,705
Ensembl chr 3:59,358,394...59,359,341 		JBrowse link
G SPRYD7 SPRY domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:27,832,306...27,890,996 JBrowse link
G SUCLA2 succinate-CoA ligase ADP-forming subunit beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:25,889,687...25,951,641 JBrowse link
G SUGT1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:30,415,371...30,451,337
Ensembl chr 3:30,415,591...30,450,879 		JBrowse link
G TBC1D4 TBC1 domain family member 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:54,384,597...54,588,842
Ensembl chr 3:54,386,342...54,464,531 		JBrowse link
G TDRD3 tudor domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:38,174,141...38,361,626
Ensembl chr 3:38,174,990...38,361,622 		JBrowse link
G THSD1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:30,152,706...30,180,223
Ensembl chr 3:30,153,364...30,183,302 		JBrowse link
G TMEM272 transmembrane protein 272 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar
G TRIM13 tripartite motif containing 13 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:27,851,552...27,925,379
Ensembl chr 3:27,924,150...27,925,373 		JBrowse link
G UCHL3 ubiquitin C-terminal hydrolase L3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar Ensembl chr 3:54,647,590...54,706,497 JBrowse link
G UTP14C UTP14C small subunit processome component ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:29,912,001...29,920,880
Ensembl chr 3:29,916,080...29,918,395 		JBrowse link
G VPS36 vacuolar protein sorting 36 homolog ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:30,112,245...30,147,976
Ensembl chr 3:30,112,322...30,145,275 		JBrowse link
G WDFY2 WD repeat and FYVE domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 3:29,462,390...29,644,021
Ensembl chr 3:29,462,836...29,640,806 		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 chr26:51,990,492...52,053,198
Ensembl chr26:51,990,534...52,051,986 		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 chr26:56,230,006...56,416,398
Ensembl chr26:56,230,723...56,417,052 		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 chr28:4,565,958...5,759,088
Ensembl chr28:4,567,622...4,595,056 		JBrowse link
G CCDC92B coiled-coil domain containing 92B ISO ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr16:2,332,418...2,360,278 JBrowse link
G CHRNA7 cholinergic receptor nicotinic alpha 7 subunit ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar NCBI chr26:50,554,143...50,686,847
Ensembl chr26:50,551,829...50,686,803 		JBrowse link
G CLUH clustered mitochondria homolog ISO ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr16:2,300,052...2,322,711
Ensembl chr16:2,299,725...2,319,020 		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:25741868 PMID:31690835 PMID:36901699 NCBI chr26:53,562,105...53,673,544
Ensembl chr26:53,595,767...53,672,977 		JBrowse link
G ENTREP2 endosomal transmembrane epsin interactor 2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr26:52,053,475...52,493,118
Ensembl chr26:52,056,553...52,178,224 		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 chr26:55,147,512...55,227,801
Ensembl chr26:55,147,511...55,227,297 		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 chr26:55,319,667...55,543,116
Ensembl chr26:55,471,907...55,538,855 		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 chr26:54,570,497...55,126,712 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 chr26:53,760,172...54,007,356
Ensembl chr26:53,792,593...54,007,489 		JBrowse link
G LOC103245993 golgin A6 family like 2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr26:53,769,161...53,778,814 JBrowse link
G LOC103246115 golgin subfamily A member 8A ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr26:53,002,067...53,011,487 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 chr26:57,975,936...57,980,492 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 chr26:58,056,674...58,059,921
Ensembl chr26:58,057,374...58,058,897 		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 chr26:57,939,212...57,940,868
Ensembl chr26:57,939,330...57,940,295 		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:25741868 PMID:31690835 PMID:36901699 NCBI chr26:53,718,832...53,746,456 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:25741868 PMID:31690835 PMID:36901699 NCBI chr26:53,675,253...53,715,695
Ensembl chr26:53,676,125...53,697,733 		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 chr26:57,306,094...57,311,033
Ensembl chr26:57,306,809...57,310,288 		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 chr26:52,187,217...52,189,718
Ensembl chr26:52,187,898...52,188,812 		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 chr26:54,022,346...54,429,991
Ensembl chr26:54,039,197...54,352,774 		JBrowse link
G OTUD7A OTU deubiquitinase 7A ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar NCBI chr26:50,842,957...51,213,515 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 chr16:2,270,126...2,293,705
Ensembl chr16:2,270,085...2,296,825 		JBrowse link
G RAP1GAP2 RAP1 GTPase activating protein 2 ISO ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr16:2,397,634...2,643,078
Ensembl chr16:2,385,707...2,643,074 		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 chr26:57,087,556...57,198,464
Ensembl chr26:57,087,695...57,091,671 		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 chr26:57,087,558...57,111,378 JBrowse link
G TJP1 tight junction protein 1 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr26:52,623,751...52,750,037
Ensembl chr26:52,622,743...52,749,950 		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:25741868 PMID:31690835 PMID:36901699 NCBI chr26:53,497,298...53,541,339
Ensembl chr26:53,506,340...53,541,319 		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 chr26:56,638,936...56,738,555
Ensembl chr26:56,666,162...56,736,737 		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:25741868 PMID:31690835 NCBI chr26:50,554,143...50,686,847
Ensembl chr26:50,551,829...50,686,803 		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 chr26:51,720,822...51,759,652
Ensembl chr26:51,725,017...51,759,413 		JBrowse link
G KLF13 KLF transcription factor 13 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr26:51,308,233...51,359,433
Ensembl chr26:51,313,743...51,359,340 		JBrowse link
G MTMR10 myotubularin related protein 10 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr26:51,670,086...51,723,401
Ensembl chr26:51,670,132...51,724,226 		JBrowse link
G OTUD7A OTU deubiquitinase 7A ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr26:50,842,957...51,213,515 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 chr26:51,560,992...51,660,857
Ensembl chr26:51,586,041...51,660,171 		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
G COMMD4 COMM domain containing 4 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr26:8,087,150...8,091,322
Ensembl chr26:8,086,872...8,089,301 		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 chr26:7,735,972...7,761,355
Ensembl chr26:7,694,014...7,761,342 		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 chr26:7,793,302...7,794,976
Ensembl chr26:7,793,899...7,794,453 		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 chr26:8,061,643...8,074,157
Ensembl chr26:8,061,681...8,074,043 		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 chr26:8,074,706...8,082,437
Ensembl chr26:8,074,310...8,082,123 		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 chr26:7,852,220...7,959,671
Ensembl chr26:7,852,940...7,958,039 		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 condition | 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 chr26:7,971,208...8,060,888
Ensembl chr26:7,975,484...8,058,278 		JBrowse link
G SNUPN snurportin 1 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr26:7,806,698...7,835,477 JBrowse link
G SNX33 sorting nexin 33 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr26:7,776,989...7,787,873
Ensembl chr26:7,778,390...7,786,591 		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 chr29:18,484,341...18,842,210
Ensembl chr29:18,481,449...18,841,568 		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 chr29:19,347,101...19,383,600 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 chr29:19,065,756...19,115,156
Ensembl chr29:19,075,293...19,115,216 		JBrowse link
G CERS3 ceramide synthase 3 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr29:18,883,532...19,016,790
Ensembl chr29:18,929,866...18,974,662 		JBrowse link
G CHSY1 chondroitin sulfate synthase 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr29:19,633,335...19,707,547
Ensembl chr29:19,632,026...19,707,425 		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 chr29:17,212,206...17,534,036
Ensembl chr29:17,459,404...17,526,930 		JBrowse link
G LINS1 lines homolog 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr29:19,036,427...19,065,361
Ensembl chr29:19,036,305...19,044,244 		JBrowse link
G LRRC28 leucine rich repeat containing 28 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr29:17,841,731...17,971,267
Ensembl chr29:17,841,855...17,971,532 		JBrowse link
G LRRK1 leucine rich repeat kinase 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr29:19,385,149...19,532,440
Ensembl chr29:19,386,170...19,533,686 		JBrowse link
G LYSMD4 LysM domain containing 4 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr29:18,325,403...18,329,678
Ensembl chr29:18,323,749...18,329,648 		JBrowse link
G MEF2A myocyte enhancer factor 2A ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr29:18,150,315...18,312,975
Ensembl chr29:18,150,854...18,309,247 		JBrowse link
G PGPEP1L pyroglutamyl-peptidase I like ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr29:17,537,895...17,587,521 JBrowse link
G SYNM synemin ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr29:17,693,148...17,723,847
Ensembl chr29:17,693,121...17,724,387 		JBrowse link
G TTC23 tetratricopeptide repeat domain 23 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr29:17,724,470...17,841,585
Ensembl chr29:17,724,456...17,840,157 		JBrowse link
chromosome 16p11.2 deletion syndrome, 220-kb term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 ISO ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar NCBI chr 5:26,165,370...26,196,517
Ensembl chr 5:26,164,205...26,193,172 		JBrowse link
G ATXN2L ataxin 2 like ISO ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar NCBI chr 5:26,230,503...26,246,365
Ensembl chr 5:26,230,488...26,245,334 		JBrowse link
G CD19 CD19 molecule ISO ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar NCBI chr 5:26,140,703...26,145,447 JBrowse link
G LAT linker for activation of T cells ISO ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar NCBI chr 5:26,079,387...26,084,823
Ensembl chr 5:26,079,383...26,084,787 		JBrowse link
G NFATC2IP nuclear factor of activated T cells 2 interacting protein ISO ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar NCBI chr 5:26,105,784...26,120,025
Ensembl chr 5:26,103,107...26,119,963 		JBrowse link
G RABEP2 rabaptin, RAB GTPase binding effector protein 2 ISO ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar NCBI chr 5:26,130,667...26,165,415
Ensembl chr 5:26,131,512...26,168,514 		JBrowse link
G SH2B1 SH2B adaptor protein 1 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome, 220 kb | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29631267 PMID:31439647 NCBI chr 5:26,197,483...26,208,332
Ensembl chr 5:26,196,778...26,207,398 		JBrowse link
G SPNS1 SPNS lysolipid transporter 1, lysophospholipid ISO ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar NCBI chr 5:26,085,461...26,095,585
Ensembl chr 5:26,085,918...26,095,309 		JBrowse link
G TUFM Tu translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar NCBI chr 5:26,221,203...26,225,080
Ensembl chr 5:26,221,337...26,225,083 		JBrowse link
chromosome 16p11.2 deletion syndrome, 593-kb 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: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 Ensembl chr 5:26,588,868...26,592,112 JBrowse link
G ASPHD1 aspartate beta-hydroxylase domain containing 1 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 5:26,764,325...26,769,939
Ensembl chr 5:26,762,663...26,769,900 		JBrowse link
G ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 5:26,165,370...26,196,517
Ensembl chr 5:26,164,205...26,193,172 		JBrowse link
G ATXN2L ataxin 2 like ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 5:26,230,503...26,246,365
Ensembl chr 5:26,230,488...26,245,334 		JBrowse link
G BOLA2B bolA family member 2B ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:31690835 NCBI chr 5:26,478,391...26,479,775 JBrowse link
G CD19 CD19 molecule ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 5:26,140,703...26,145,447 JBrowse link
G CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 5:26,791,952...26,798,199 JBrowse link
G CORO1A coronin 1A ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 5:26,482,269...26,488,537
Ensembl chr 5:26,480,753...26,487,929 		JBrowse link
G CUNH16orf54 chromosome unknown C16orf54 homolog ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 5:26,903,862...26,907,726
Ensembl chr 5:26,905,241...26,905,915 		JBrowse link
G CUNH16orf92 chromosome unknown C16orf92 homolog ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 5:26,639,049...26,640,862
Ensembl chr 5:26,639,548...26,640,418 		JBrowse link
G DOC2A double C2 domain alpha ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 5:26,649,818...26,656,755
Ensembl chr 5:26,651,949...26,656,075 		JBrowse link
G GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 5:26,545,766...26,554,767
Ensembl chr 5:26,546,323...26,554,700 		JBrowse link
G HIRIP3 HIRA interacting protein 3 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 5:26,665,874...26,668,980
Ensembl chr 5:26,666,360...26,669,632 		JBrowse link
G INO80E INO80 complex subunit E ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 5:26,656,480...26,665,766
Ensembl chr 5:26,653,722...26,665,652 		JBrowse link
G KCTD13 potassium channel tetramerization domain containing 13 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 5:26,727,963...26,764,041
Ensembl chr 5:26,728,168...26,764,910 		JBrowse link
G KIF22 kinesin family member 22 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 5:26,848,443...26,863,666
Ensembl chr 5:26,848,242...26,857,084 		JBrowse link
G LAT linker for activation of T cells ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 5:26,079,387...26,084,823
Ensembl chr 5:26,079,383...26,084,787 		JBrowse link
G LOC103230462 sulfotransferase 1A3 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:31690835 NCBI chr 5:26,469,450...26,474,416 JBrowse link
G LOC103230584 uncharacterized LOC103230584 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 5:26,588,932...26,606,722
Ensembl chr 5:26,588,868...26,592,112 		JBrowse link
G MAPK3 mitogen-activated protein kinase 3 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 5:26,536,471...26,545,666
Ensembl chr 5:26,536,532...26,546,461 		JBrowse link
G MAZ MYC associated zinc finger protein ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 5:26,842,930...26,847,759 JBrowse link
G MVP major vault protein ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 5:26,805,070...26,833,043
Ensembl chr 5:26,801,753...26,833,199 		JBrowse link
G NFATC2IP nuclear factor of activated T cells 2 interacting protein ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 5:26,105,784...26,120,025
Ensembl chr 5:26,103,107...26,119,963 		JBrowse link
G PAGR1 PAXIP1 associated glutamate rich protein 1 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 5:26,833,333...26,837,655
Ensembl chr 5:26,833,675...26,837,640 		JBrowse link
G PPP4C protein phosphatase 4 catalytic subunit ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 5:26,573,636...26,585,814
Ensembl chr 5:26,573,638...26,585,849 		JBrowse link
G PRRT2 proline rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 5:26,838,280...26,841,918
Ensembl chr 5:26,839,454...26,841,916 		JBrowse link
G QPRT quinolinate phosphoribosyltransferase ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 5:26,953,980...26,970,120
Ensembl chr 5:26,950,391...26,970,079 		JBrowse link
G RABEP2 rabaptin, RAB GTPase binding effector protein 2 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 5:26,130,667...26,165,415
Ensembl chr 5:26,131,512...26,168,514 		JBrowse link
G SEZ6L2 seizure related 6 homolog like 2 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 5:26,742,455...26,784,405
Ensembl chr 5:26,742,482...26,784,918 		JBrowse link
G SH2B1 SH2B adaptor protein 1 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 5:26,197,483...26,208,332
Ensembl chr 5:26,196,778...26,207,398 		JBrowse link
G SLX1A SLX1 homolog A, structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:31690835 NCBI chr 5:26,475,234...26,478,844 JBrowse link
G SPN sialophorin ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 5:26,987,810...26,990,214 JBrowse link
G SPNS1 SPNS lysolipid transporter 1, lysophospholipid ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 5:26,085,461...26,095,585
Ensembl chr 5:26,085,918...26,095,309 		JBrowse link
G TAOK2 TAO kinase 2 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 5:26,669,687...26,688,418
Ensembl chr 5:26,669,702...26,688,389 		JBrowse link
G TBX6 T-box transcription factor 6 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 5:26,566,673...26,573,258
Ensembl chr 5:26,567,700...26,572,820 		JBrowse link
G TLCD3B TLC domain containing 3B ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 5:26,626,643...26,639,343
Ensembl chr 5:26,632,509...26,639,356 		JBrowse link
G TMEM219 transmembrane protein 219 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 5:26,689,192...26,721,969 JBrowse link
G TUFM Tu translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 5:26,221,203...26,225,080
Ensembl chr 5:26,221,337...26,225,083 		JBrowse link
G YPEL3 yippee like 3 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 5:26,562,621...26,566,583
Ensembl chr 5:26,562,594...26,566,311 		JBrowse link
G ZG16 zymogen granule protein 16 ISO ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 5:26,873,363...26,875,944
Ensembl chr 5:26,872,263...26,874,595 		JBrowse link
chromosome 16p12.1 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDR2 cerebellar degeneration related protein 2 ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr 5:20,020,343...20,051,221
Ensembl chr 5:20,020,297...20,051,118 		JBrowse link
G EEF2K eukaryotic elongation factor 2 kinase ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr 5:19,871,669...19,957,471
Ensembl chr 5:19,871,310...19,957,395 		JBrowse link
G MOSMO modulator of smoothened ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr 5:19,679,299...19,760,484
Ensembl chr 5:19,679,317...19,758,166 		JBrowse link
G PDZD9 PDZ domain containing 9 ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr 5:19,651,040...19,672,215
Ensembl chr 5:19,654,570...19,671,861 		JBrowse link
G POLR3E RNA polymerase III subunit E ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr 5:19,969,494...20,007,954
Ensembl chr 5:19,976,759...20,000,094 		JBrowse link
G SDR42E2 short chain dehydrogenase/reductase family 42E, member 2 ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr 5:19,831,523...19,862,855 JBrowse link
G UQCR2 ubiquinol-cytochrome c reductase core protein II ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr 5:19,622,884...19,653,667
Ensembl chr 5:19,623,410...19,653,479 		JBrowse link
G VWA3A von Willebrand factor A domain containing 3A ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr 5:19,758,691...19,825,373
Ensembl chr 5:19,765,290...19,824,918 		JBrowse link
chromosome 16q22 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACD ACD shelterin complex subunit and telomerase recruitment factor ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:59,783,842...59,787,117
Ensembl chr 5:59,784,178...59,787,032 		JBrowse link
G CARMIL2 capping protein regulator and myosin 1 linker 2 ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:59,787,069...59,801,615
Ensembl chr 5:59,787,120...59,801,122 		JBrowse link
G CTCF CCCTC-binding factor ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:59,806,753...59,889,534
Ensembl chr 5:59,806,551...59,880,049 		JBrowse link
G CUNH16orf86 chromosome unknown C16orf86 homolog ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:59,775,704...59,777,625
Ensembl chr 5:59,774,667...59,777,519 		JBrowse link
G ENKD1 enkurin domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:59,777,714...59,781,715
Ensembl chr 5:59,777,748...59,781,499 		JBrowse link
G GFOD2 Gfo/Idh/MocA-like oxidoreductase domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:59,715,257...59,769,806
Ensembl chr 5:59,715,287...59,770,089 		JBrowse link
G PARD6A par-6 family cell polarity regulator alpha ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:59,781,890...59,783,990 JBrowse link
G RANBP10 RAN binding protein 10 ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr 5:59,631,308...59,711,098 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 chr16:59,692,890...59,888,955
Ensembl chr16:59,747,522...59,890,061 		JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14961032 NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223 		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 chr16:25,677,632...25,700,769
Ensembl chr16:25,678,197...25,700,061 		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 chr16:30,728,070...30,838,816
Ensembl chr16:30,728,070...30,838,704 		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 chr16:30,374,166...30,704,635
Ensembl chr16:30,452,343...30,705,004 		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 chr16:29,538,329...29,546,283
Ensembl chr16:29,538,740...29,546,291 		JBrowse link
G CCL4L2 C-C motif chemokine ligand 4 like 2 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:24088041 PMID:26633545 NCBI chr16:29,565,468...29,567,911 JBrowse link
G CUNH17orf78 chromosome unknown C17orf78 homolog ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr16:30,396,521...30,414,107
Ensembl chr16:30,397,758...30,413,862 		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 chr16:30,138,075...30,168,803
Ensembl chr16:30,138,084...30,170,332 		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 chr16:31,189,107...31,198,435
Ensembl chr16:31,189,710...31,198,218 		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 chr16:30,269,127...30,291,771
Ensembl chr16:30,269,779...30,270,375 		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 chr16:31,200,734...31,261,040
Ensembl chr16:31,200,740...31,260,305 		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 chr16:30,033,486...30,097,106
Ensembl chr16:30,036,766...30,097,088 		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 chr16:30,843,062...30,850,182
Ensembl chr16:30,842,652...30,849,465 		JBrowse link
G LOC103242767 C-C motif chemokine 3 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:24088041 PMID:26633545 NCBI chr16:29,887,799...29,897,664
Ensembl chr16:29,887,883...29,897,544 		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 chr16:31,180,924...31,189,018 JBrowse link
G MRPL45 mitochondrial ribosomal protein L45 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:24088041 PMID:26633545 NCBI chr16:67,858,825...67,872,482 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 chr16:31,270,855...31,313,273
Ensembl chr16:31,271,586...31,312,621 		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 chr16:31,267,404...31,279,450
Ensembl chr16:31,267,562...31,269,073 		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 chr16:30,171,704...30,265,143
Ensembl chr16:30,181,431...30,264,981 		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 chr16:30,303,858...30,374,104
Ensembl chr16:30,300,532...30,374,078 		JBrowse link
G TBC1D3B TBC1 domain family member 3B ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:24088041 PMID:26633545 NCBI chr16:20,803,503...20,826,676 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 chr16:31,313,087...31,322,303 JBrowse link
chromosome 17q23.1-q23.2 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC2A1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Chromosome 17q23.1-q23.2 deletion syndrome ClinVar PMID:12325075 PMID:17052934 PMID:17718830 PMID:19798636 PMID:21546317 More... NCBI chr20:89,974,567...90,007,977
Ensembl chr20:90,002,030...90,008,033 		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 chr18:70,890,939...70,939,504
Ensembl chr18:70,891,554...70,939,352 		JBrowse link
G AKAIN1 A-kinase anchor inhibitor 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:64,258,502...64,313,587
Ensembl chr18:64,260,399...64,311,867 		JBrowse link
G ANKRD12 ankyrin repeat domain 12 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:68,055,330...68,189,543
Ensembl chr18:68,121,005...68,187,751 		JBrowse link
G ANKRD62 ankyrin repeat domain 62 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:70,654,297...70,735,080 JBrowse link
G APCDD1 APC down-regulated 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:69,283,352...69,317,504
Ensembl chr18:69,283,650...69,318,393 		JBrowse link
G ARHGAP28 Rho GTPase activating protein 28 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:65,783,800...65,971,262
Ensembl chr18:65,808,866...65,973,180 		JBrowse link
G CEP192 centrosomal protein 192 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:71,524,313...71,632,482
Ensembl chr18:71,524,414...71,632,480 		JBrowse link
G CEP76 centrosomal protein 76 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:71,192,753...71,221,909
Ensembl chr18:71,192,568...71,221,790 		JBrowse link
G CHMP1B charged multivesicular body protein 1B ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:69,534,547...69,539,377 JBrowse link
G CIDEA cell death inducing DFFA like effector a ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:70,836,188...70,853,917 JBrowse link
G DLGAP1 DLG associated protein 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:62,731,283...63,680,849
Ensembl chr18:62,730,753...63,091,140 		JBrowse link
G EMILIN2 elastin microfibril interfacer 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:62,110,324...62,171,066
Ensembl chr18:62,110,616...62,170,384 		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 chr18:64,489,194...64,704,733
Ensembl chr18:64,489,042...64,585,973 		JBrowse link
G FAM210A family with sequence similarity 210 member A ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:72,144,944...72,203,303
Ensembl chr18:72,141,561...72,203,251 		JBrowse link
G GNAL G protein subunit alpha L ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:69,508,254...69,699,628
Ensembl chr18:69,510,512...69,635,000 		JBrowse link
G IMPA2 inositol monophosphatase 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:69,389,414...69,436,128
Ensembl chr18:69,389,606...69,436,191 		JBrowse link
G L3MBTL4 L3MBTL histone methyl-lysine binding protein 4 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:65,029,701...65,471,816
Ensembl chr18:65,029,713...65,471,137 		JBrowse link
G LAMA1 laminin subunit alpha 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:65,996,233...66,162,510 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 chr18:71,705,206...72,132,544
Ensembl chr18:72,094,321...72,125,592 		JBrowse link
G LOC103222703 myosin regulatory light chain 12A ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:62,496,372...62,504,835
Ensembl chr18:62,501,879...62,505,937 		JBrowse link
G LPIN2 lipin 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:62,152,837...62,265,992
Ensembl chr18:62,177,246...62,236,593 		JBrowse link
G LRRC30 leucine rich repeat containing 30 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:66,258,023...66,261,327
Ensembl chr18:66,259,044...66,259,946 		JBrowse link
G MC2R melanocortin 2 receptor ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:72,286,380...72,296,607
Ensembl chr18:72,288,224...72,289,105 		JBrowse link
G MC5R melanocortin 5 receptor ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:72,263,016...72,268,436
Ensembl chr18:72,264,815...72,265,792 		JBrowse link
G MPPE1 metallophosphoesterase 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:69,484,134...69,507,797
Ensembl chr18:69,495,055...69,511,087 		JBrowse link
G MTCL1 microtubule crosslinking factor 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:67,666,982...67,792,792
Ensembl chr18:67,667,690...67,788,981 		JBrowse link
G MYL12B myosin light chain 12B ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:62,510,012...62,527,027
Ensembl chr18:62,521,295...62,529,131 		JBrowse link
G MYOM1 myomesin 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:62,321,086...62,474,955
Ensembl chr18:62,320,793...62,465,485 		JBrowse link
G NAPG NSF attachment protein gamma ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:69,354,733...69,379,104
Ensembl chr18:69,354,824...69,378,494 		JBrowse link
G NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:68,018,120...68,052,883
Ensembl chr18:68,018,143...68,053,634 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:70,161,961...70,623,912
Ensembl chr18:70,246,132...70,622,611 		JBrowse link
G PPP4R1 protein phosphatase 4 regulatory subunit 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:68,417,293...68,488,683
Ensembl chr18:68,418,292...68,488,176 		JBrowse link
G PRELID3A PRELI domain containing 3A ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:70,957,851...70,980,729 JBrowse link
G PSMG2 proteasome assembly chaperone 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:71,186,831...71,244,071
Ensembl chr18:71,222,100...71,244,587 		JBrowse link
G PTPN2 protein tyrosine phosphatase non-receptor type 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:71,302,082...71,400,201
Ensembl chr18:71,310,577...71,345,960 		JBrowse link
G PTPRM protein tyrosine phosphatase receptor type M ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:66,564,562...67,398,541
Ensembl chr18:66,773,588...67,398,542 		JBrowse link
G RAB12 RAB12, member RAS oncogene family ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:67,572,529...67,600,646
Ensembl chr18:67,572,519...67,601,428 		JBrowse link
G RAB31 RAB31, member RAS oncogene family ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:68,583,178...68,736,182
Ensembl chr18:68,583,259...68,736,771 		JBrowse link
G RALBP1 ralA binding protein 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:68,353,823...68,415,221
Ensembl chr18:68,391,245...68,413,555 		JBrowse link
G RNMT RNA guanine-7 methyltransferase ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:72,203,405...72,242,527
Ensembl chr18:72,208,648...72,243,940 		JBrowse link
G SEH1L SEH1 like nucleoporin ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:71,453,924...71,492,289
Ensembl chr18:71,453,972...71,491,808 		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 chr18:61,921,477...62,069,187
Ensembl chr18:61,921,124...62,070,878 		JBrowse link
G SPIRE1 spire type actin nucleation factor 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:70,995,611...71,178,844
Ensembl chr18:70,995,390...71,178,538 		JBrowse link
G TGIF1 TGFB induced factor homeobox 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:62,691,705...62,698,265 JBrowse link
G TMEM200C transmembrane protein 200C ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:64,961,319...64,966,946
Ensembl chr18:64,962,104...64,963,969 		JBrowse link
G TUBB6 tubulin beta 6 class V ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:70,870,576...70,888,560
Ensembl chr18:70,870,566...70,888,099 		JBrowse link
G TWSG1 twisted gastrulation BMP signaling modulator 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:68,225,350...68,289,458
Ensembl chr18:68,225,343...68,290,969 		JBrowse link
G TXNDC2 thioredoxin domain containing 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:68,757,934...68,760,701
Ensembl chr18:68,758,946...68,760,537 		JBrowse link
G VAPA VAMP associated protein A ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:68,784,786...68,825,333
Ensembl chr18:68,784,799...68,827,581 		JBrowse link
G ZBTB14 zinc finger and BTB domain containing 14 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:64,388,984...64,398,969
Ensembl chr18:64,389,055...64,394,938 		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 chr18:140,780...169,416
Ensembl chr18:139,995...169,052 		JBrowse link
G ANKRD29 ankyrin repeat domain 29 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:56,879,788...56,943,189
Ensembl chr18:56,880,636...56,944,306 		JBrowse link
G AQP4 aquaporin 4 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:53,729,143...53,742,916
Ensembl chr18:53,729,186...53,743,156 		JBrowse link
G ARK2C arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:34,446,996...34,573,186
Ensembl chr18:34,451,095...34,474,080 		JBrowse link
G ARK2N arkadia (RNF111) N-terminal like PKA signaling regulator 2N ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:34,641,758...34,741,608
Ensembl chr18:34,645,568...34,741,075 		JBrowse link
G ASXL3 ASXL transcriptional regulator 3 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:46,988,038...47,160,193 JBrowse link
G ATP5F1A ATP synthase F1 subunit alpha ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:34,815,924...34,828,052
Ensembl chr18:34,816,027...34,830,924 		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 chr18:832,908...1,115,758
Ensembl chr18:830,771...1,115,876 		JBrowse link
G B4GALT6 beta-1,4-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:49,037,348...49,101,769
Ensembl chr18:49,037,225...49,102,502 		JBrowse link
G BCL2 BCL2 apoptosis regulator ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895 		JBrowse link
G CABYR calcium binding tyrosine phosphorylation regulated ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:56,371,478...56,395,160
Ensembl chr18:56,371,342...56,394,466 		JBrowse link
G CBLN2 cerebellin 2 precursor ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:7,270,551...7,280,233
Ensembl chr18:7,274,754...7,278,714 		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 chr18:10,646,633...10,942,360
Ensembl chr18:10,646,918...10,904,913 		JBrowse link
G CCDC178 coiled-coil domain containing 178 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:47,296,216...47,805,502
Ensembl chr18:47,339,825...47,637,251 		JBrowse link
G CD226 CD226 molecule ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:9,790,483...9,900,376
Ensembl chr18:9,811,168...9,901,830 		JBrowse link
G CDH19 cadherin 19 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:13,155,504...13,256,781
Ensembl chr18:13,187,487...13,256,691 		JBrowse link
G CDH2 cadherin 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:52,426,381...52,652,986
Ensembl chr18:52,426,077...52,654,828 		JBrowse link
G CDH20 cadherin 20 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:18,207,407...18,426,620
Ensembl chr18:18,207,415...18,269,551 		JBrowse link
G CDH7 cadherin 7 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:13,867,659...14,009,754
Ensembl chr18:13,870,360...13,989,936 		JBrowse link
G CELF4 CUGBP Elav-like family member 4 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:43,314,960...43,635,301
Ensembl chr18:43,603,021...43,624,537 		JBrowse link
G CHST9 carbohydrate sulfotransferase 9 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:53,397,448...53,675,782
Ensembl chr18:53,432,732...53,674,114 		JBrowse link
G CNDP1 carnosine dipeptidase 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:5,317,101...5,364,323
Ensembl chr18:5,317,542...5,364,277 		JBrowse link
G CNDP2 carnosine dipeptidase 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:5,376,201...5,400,778
Ensembl chr18:5,375,729...5,397,100 		JBrowse link
G CTDP1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:479,476...549,546
Ensembl chr18:478,543...544,258 		JBrowse link
G CTIF cap binding complex dependent translation initiation factor ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:32,080,042...32,409,356
Ensembl chr18:32,083,646...32,328,946 		JBrowse link
G CUNH18orf21 chromosome unknown C18orf21 homolog ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:44,823,095...44,829,830
Ensembl chr18:44,821,636...44,830,172 		JBrowse link
G CUNH18orf63 chromosome unknown C18orf63 homolog ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:5,532,726...5,575,198
Ensembl chr18:5,535,139...5,572,666 		JBrowse link
G CYB5A cytochrome b5 type A ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:5,599,198...5,636,620
Ensembl chr18:5,599,206...5,640,012 		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 chr18:5,432,911...5,456,470
Ensembl chr18:5,433,556...5,454,091 		JBrowse link
G DOK6 docking protein 6 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:9,917,538...10,348,944 JBrowse link
G DSC1 desmocollin 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:49,547,141...49,578,226
Ensembl chr18:49,549,287...49,576,545 		JBrowse link
G DSC2 desmocollin 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:49,596,870...49,637,587
Ensembl chr18:49,599,940...49,639,526 		JBrowse link
G DSC3 desmocollin 3 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:49,660,067...49,709,762
Ensembl chr18:49,662,094...49,709,529 		JBrowse link
G DSEL dermatan sulfate epimerase like ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:12,227,239...12,237,090
Ensembl chr18:12,228,947...12,232,615 		JBrowse link
G DSG1 desmoglein 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:49,372,261...49,408,818
Ensembl chr18:49,375,262...49,406,742 		JBrowse link
G DSG2 desmoglein 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:49,174,539...49,227,519
Ensembl chr18:49,174,409...49,227,347 		JBrowse link
G DSG3 desmoglein 3 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:49,252,048...49,284,238
Ensembl chr18:49,254,106...49,282,937 		JBrowse link
G DSG4 desmoglein 4 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:49,316,206...49,343,929
Ensembl chr18:49,317,150...49,353,635 		JBrowse link
G DTNA dystrobrevin alpha ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:45,855,444...46,253,842
Ensembl chr18:45,856,403...45,991,102 		JBrowse link
G DYM dymeclin ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:31,513,665...31,902,064
Ensembl chr18:31,513,735...31,901,811 		JBrowse link
G ELOA2 elongin A2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:33,924,612...33,927,003 JBrowse link
G ELP2 elongator acetyltransferase complex subunit 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:44,640,636...44,680,972
Ensembl chr18:44,636,318...44,681,339 		JBrowse link
G EPG5 ectopic P-granules 5 autophagy tethering factor ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:34,946,778...35,065,449
Ensembl chr18:34,946,796...35,060,595 		JBrowse link
G FBXO15 F-box protein 15 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:5,745,434...5,822,855
Ensembl chr18:5,753,036...5,822,888 		JBrowse link
G FHOD3 formin homology 2 domain containing 3 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:44,053,360...44,540,820
Ensembl chr18:44,049,837...44,540,760 		JBrowse link
G GALNT1 polypeptide N-acetylgalactosaminyltransferase 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:45,080,786...45,156,776
Ensembl chr18:45,077,944...45,139,410 		JBrowse link
G GALR1 galanin receptor 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:2,719,736...2,739,018 JBrowse link
G GAREM1 GRB2 associated regulator of MAPK1 subtype 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:48,287,589...48,483,135
Ensembl chr18:48,287,579...48,483,552 		JBrowse link
G HAUS1 HAUS augmin like complex subunit 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:34,783,063...34,810,249
Ensembl chr18:34,783,271...34,810,076 		JBrowse link
G HDHD2 haloacid dehalogenase like hydrolase domain containing 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:33,793,661...33,842,397
Ensembl chr18:33,815,017...33,841,508 		JBrowse link
G HRH4 histamine receptor H4 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:56,056,522...56,095,194
Ensembl chr18:56,057,605...56,068,482 		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 chr18:288,772...294,717
Ensembl chr18:288,789...294,367 		JBrowse link
G IER3IP1 immediate early response 3 interacting protein 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:33,767,897...33,789,114
Ensembl chr18:33,767,957...33,790,095 		JBrowse link
G IMPACT impact RWD domain protein ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:56,081,440...56,123,067
Ensembl chr18:56,092,481...56,122,963 		JBrowse link
G INO80C INO80 complex subunit C ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:45,282,846...45,311,885
Ensembl chr18:45,282,812...45,311,870 		JBrowse link
G KATNAL2 katanin catalytic subunit A1 like 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:33,848,471...33,967,832
Ensembl chr18:33,848,748...33,907,092 		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 chr18:357,227...443,625
Ensembl chr18:357,515...397,183 		JBrowse link
G KCTD1 potassium channel tetramerization domain containing 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:53,933,015...54,132,849
Ensembl chr18:54,039,500...54,133,549 		JBrowse link
G KDSR 3-ketodihydrosphingosine reductase ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:16,392,714...16,429,912
Ensembl chr18:16,392,756...16,434,035 		JBrowse link
G KIAA1328 KIAA1328 ortholog ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:43,653,351...44,004,935
Ensembl chr18:43,656,406...43,998,882 		JBrowse link
G KLHL14 kelch like family member 14 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:47,964,592...48,065,840
Ensembl chr18:47,967,371...48,063,882 		JBrowse link
G LAMA3 laminin subunit alpha 3 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:56,580,245...56,851,381
Ensembl chr18:56,580,700...56,850,451 		JBrowse link
G LOC103244110 Gilles de la Tourette syndrome chromosome region, candidate 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:9,126,625...9,146,454 JBrowse link
G LOC103244145 serpin B8 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:15,766,510...15,787,350
Ensembl chr18:15,765,671...15,787,370 		JBrowse link
G LOC103244151 serpin B6 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:15,799,445...15,844,430 JBrowse link
G LOXHD1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:34,247,584...34,431,038
Ensembl chr18:34,249,250...34,430,532 		JBrowse link
G MAPRE2 microtubule associated protein RP/EB family member 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:45,615,849...45,775,688
Ensembl chr18:45,617,280...45,716,637 		JBrowse link
G MBP myelin basic protein ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:2,844,154...2,996,640
Ensembl chr18:2,868,795...2,997,046 		JBrowse link
G MC4R melanocortin 4 receptor ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 NCBI chr18:19,380,054...19,386,412
Ensembl chr18:19,380,849...19,381,847 		JBrowse link
G MEP1B meprin A subunit beta ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:48,519,933...48,551,223
Ensembl chr18:48,518,403...48,550,604 		JBrowse link
G MOCOS molybdenum cofactor sulfurase ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:44,570,277...44,627,641
Ensembl chr18:44,581,987...44,627,557 		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 chr18:6,956,629...7,082,135
Ensembl chr18:6,957,091...7,076,892 		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 chr18:690,313...815,804
Ensembl chr18:689,671...811,100 		JBrowse link
G NOL4 nucleolar protein 4 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:46,519,566...46,901,694
Ensembl chr18:46,521,206...46,901,764 		JBrowse link
G OSBPL1A oxysterol binding protein like 1A ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:56,122,942...56,370,730
Ensembl chr18:56,144,766...56,369,599 		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 chr18:32,925...124,001 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 chr18:16,786,128...17,051,250 JBrowse link
G PIAS2 protein inhibitor of activated STAT 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:33,967,894...34,075,824
Ensembl chr18:33,967,999...34,067,910 		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 chr18:17,589,582...17,725,823
Ensembl chr18:17,589,631...17,725,823 		JBrowse link
G PIK3C3 phosphatidylinositol 3-kinase catalytic subunit type 3 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:38,785,476...38,914,279
Ensembl chr18:38,787,717...38,914,185 		JBrowse link
G PSMA8 proteasome 20S subunit alpha 8 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:54,384,955...54,441,692
Ensembl chr18:54,385,855...54,440,912 		JBrowse link
G PSTPIP2 proline-serine-threonine phosphatase interacting protein 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:34,842,905...34,937,049
Ensembl chr18:34,882,194...34,933,693 		JBrowse link
G PTGR3 prostaglandin reductase 3 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:4,702,671...4,712,792
Ensembl chr18:4,702,617...4,714,272 		JBrowse link
G RBFA ribosome binding factor A ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:222,969...234,718
Ensembl chr18:223,214...234,696 		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 chr18:17,467,242...17,589,433
Ensembl chr18:17,466,750...17,589,413 		JBrowse link
G RIT2 Ras like without CAAX 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:37,751,946...38,132,453 JBrowse link
G RNF125 ring finger protein 125 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:48,665,694...48,712,371
Ensembl chr18:48,666,554...48,711,604 		JBrowse link
G RNF138 ring finger protein 138 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:48,604,241...48,643,834
Ensembl chr18:48,603,965...48,642,720 		JBrowse link
G RNF152 ring finger protein 152 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:17,872,141...17,952,989
Ensembl chr18:17,949,253...17,949,864 		JBrowse link
G RPRD1A regulation of nuclear pre-mRNA domain containing 1A ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:44,735,013...44,808,023
Ensembl chr18:44,734,911...44,808,178 		JBrowse link
G RTTN rotatin ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:9,574,647...9,770,940
Ensembl chr18:9,575,159...9,772,596 		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 chr18:1,154,033...1,174,030
Ensembl chr18:1,156,502...1,173,946 		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 chr18:15,878,552...15,903,891
Ensembl chr18:15,878,191...15,894,609 		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 chr18:16,075,310...16,096,437
Ensembl chr18:16,075,796...16,088,987 		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 chr18:16,193,673...16,208,866
Ensembl chr18:16,194,694...16,206,029 		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 chr18:16,163,247...16,175,953
Ensembl chr18:16,165,054...16,173,438 		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 chr18:15,906,461...15,922,636
Ensembl chr18:15,906,469...15,922,594 		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 chr18:16,256,700...16,284,410
Ensembl chr18:16,256,552...16,283,764 		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 chr18:15,992,154...16,020,001
Ensembl chr18:15,992,186...16,044,650 		JBrowse link
G SETBP1 SET binding protein 1 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:35,819,559...36,195,895 JBrowse link
G SIGLEC15 sialic acid binding Ig like lectin 15 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:35,070,459...35,087,525 JBrowse link
G SKOR2 SKI family transcriptional corepressor 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:33,687,044...33,731,464
Ensembl chr18:33,687,057...33,716,606 		JBrowse link
G SLC14A1 solute carrier family 14 member 1 (Kidd blood group) ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:35,148,552...35,176,121
Ensembl chr18:35,146,190...35,174,948 		JBrowse link
G SLC14A2 solute carrier family 14 member 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:35,209,672...35,684,142
Ensembl chr18:35,209,267...35,404,626 		JBrowse link
G SLC25A52 solute carrier family 25 member 52 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:48,963,081...48,966,383
Ensembl chr18:48,963,316...48,964,209 		JBrowse link
G SLC39A6 solute carrier family 39 member 6 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:44,681,718...44,702,741
Ensembl chr18:44,681,508...44,702,754 		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 chr18:311,594...354,877
Ensembl chr18:312,237...353,058 		JBrowse link
G SMAD2 SMAD family member 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:33,017,138...33,105,320
Ensembl chr18:33,017,492...33,104,606 		JBrowse link
G SMAD7 SMAD family member 7 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:31,993,543...32,024,088
Ensembl chr18:31,993,681...32,024,850 		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 chr18:4,484,750...4,496,438 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 chr18:9,445,820...9,488,125
Ensembl chr18:9,449,740...9,451,347 		JBrowse link
G SS18 SS18 subunit of BAF chromatin remodeling complex ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:54,477,339...54,548,920
Ensembl chr18:54,477,959...54,546,814 		JBrowse link
G ST8SIA5 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:34,139,529...34,229,582
Ensembl chr18:34,140,253...34,228,664 		JBrowse link
G SYT4 synaptotagmin 4 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:37,595,187...37,604,931
Ensembl chr18:37,595,035...37,606,007 		JBrowse link
G TAF4B TATA-box binding protein associated factor 4b ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:54,198,730...54,357,101
Ensembl chr18:54,200,414...54,356,611 		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 chr18:5,735,562...5,745,258
Ensembl chr18:5,734,091...5,745,267 		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 chr18:11,019,907...11,059,284
Ensembl chr18:11,020,037...11,059,414 		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 chr18:17,385,251...17,446,442 JBrowse link
G TPGS2 tubulin polyglutamylase complex subunit 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:44,004,591...44,046,612
Ensembl chr18:44,004,653...44,036,892 		JBrowse link
G TRAPPC8 trafficking protein particle complex subunit 8 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:48,788,760...48,900,322
Ensembl chr18:48,789,136...48,901,279 		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 chr18:4,622,407...4,702,267
Ensembl chr18:4,623,731...4,626,925 		JBrowse link
G TTC39C tetratricopeptide repeat domain 39C ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:56,397,867...56,542,331
Ensembl chr18:56,399,489...56,520,504 		JBrowse link
G TTR transthyretin ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:49,124,302...49,131,495
Ensembl chr18:49,124,121...49,131,399 		JBrowse link
G TXNL4A thioredoxin like 4A ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:270,392...286,243
Ensembl chr18:270,938...285,966 		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 chr18:16,336,959...16,370,208
Ensembl chr18:16,336,921...16,370,291 		JBrowse link
G ZBTB7C zinc finger and BTB domain containing 7C ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:32,537,474...32,918,797
Ensembl chr18:32,610,733...32,920,166 		JBrowse link
G ZBTB7C-AS2 ZBTB7C antisense RNA 2 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:32,695,168...32,696,421 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 chr18:17,186,456...17,244,639
Ensembl chr18:17,177,964...17,244,574 		JBrowse link
G ZNF236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:3,002,133...3,173,924
Ensembl chr18:3,002,252...3,126,097 		JBrowse link
G ZNF24 zinc finger protein 24 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:45,418,556...45,430,743
Ensembl chr18:45,418,568...45,425,743 		JBrowse link
G ZNF396 zinc finger protein 396 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:45,398,167...45,405,683 JBrowse link
G ZNF397 zinc finger protein 397 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:45,456,463...45,526,907
Ensembl chr18:45,520,617...45,526,501 		JBrowse link
G ZNF407 zinc finger protein 407 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:4,844,066...5,303,034
Ensembl chr18:4,844,050...5,269,118 		JBrowse link
G ZNF516 zinc finger protein 516 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:25741868 PMID:31690835 NCBI chr18:3,449,624...3,588,105
Ensembl chr18:3,504,027...3,583,816 		JBrowse link
G ZNF516-DT ZNF516 divergent transcript ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:3,447,132...3,449,205 JBrowse link
G ZNF521 zinc finger protein 521 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:55,189,003...55,482,150
Ensembl chr18:55,188,366...55,482,211 		JBrowse link
G ZSCAN30 zinc finger and SCAN domain containing 30 ISO ClinVar Annotator: match by term: Monosomy 18q, deletion 18q ClinVar PMID:31690835 NCBI chr18:45,475,194...45,615,750
Ensembl chr18:45,497,362...45,508,287 		JBrowse link
chromosome 19q13.11 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UBA2 ubiquitin like modifier activating enzyme 2 ISO ClinVar Annotator: match by term: Chromosome 19q13.11 deletion syndrome, distal ClinVar PMID:25741868 NCBI chr 6:29,480,536...29,522,617
Ensembl chr 6:29,480,776...29,521,947 		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 chr20:119,070,230...119,081,279
Ensembl chr20:119,070,235...119,077,215 		JBrowse link
G AADACL4 arylacetamide deacetylase like 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:119,129,572...119,153,699 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 chr20:130,143,085...130,157,716
Ensembl chr20:130,143,520...130,157,730 		JBrowse link
G ACOT7 acyl-CoA thioesterase 7 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:125,345,636...125,474,650
Ensembl chr20:125,345,670...125,474,690 		JBrowse link
G ACTL8 actin like 8 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:114,746,512...114,815,891
Ensembl chr20:114,747,059...114,750,574 		JBrowse link
G ACTRT2 actin related protein T2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:128,660,029...128,665,485
Ensembl chr20:128,660,121...128,661,254 		JBrowse link
G AGMAT agmatinase (putative) ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:116,710,261...116,721,997
Ensembl chr20:116,710,578...116,722,125 		JBrowse link
G AGRN agrin ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr20:130,383,226...130,416,926
Ensembl chr20:130,383,220...130,416,933 		JBrowse link
G AGTRAP angiotensin II receptor associated protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:120,041,804...120,056,597
Ensembl chr20:120,041,479...120,056,557 		JBrowse link
G AJAP1 adherens junctions associated protein 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:126,929,822...127,060,783
Ensembl chr20:126,939,096...127,059,566 		JBrowse link
G ALDH4A1 aldehyde dehydrogenase 4 family member A1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:113,661,850...113,693,665 JBrowse link
G ANGPTL7 angiopoietin like 7 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:120,589,968...120,598,751
Ensembl chr20:120,589,812...120,597,017 		JBrowse link
G ANKRD65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr20:130,036,072...130,042,036
Ensembl chr20:130,036,658...130,038,604 		JBrowse link
G ARHGEF10L Rho guanine nucleotide exchange factor 10 like ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:114,877,880...115,059,252
Ensembl chr20:114,878,369...114,987,595 		JBrowse link
G ARHGEF16 Rho guanine nucleotide exchange factor 16 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:128,204,517...128,229,866 JBrowse link
G ARHGEF19 Rho guanine nucleotide exchange factor 19 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:116,088,130...116,107,499
Ensembl chr20:116,096,423...116,107,884 		JBrowse link
G ATAD3A ATPase family AAA domain containing 3A ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr20:129,965,964...129,987,866 JBrowse link
G ATP13A2 ATPase cation transporting 13A2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:115,578,185...115,605,416
Ensembl chr20:115,578,261...115,605,647 		JBrowse link
G AURKAIP1 aurora kinase A interacting protein 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr20:130,074,660...130,076,355
Ensembl chr20:130,075,295...130,076,765 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr20:130,210,828...130,212,732
Ensembl chr20:130,211,718...130,212,707 		JBrowse link
G C1QTNF12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr20:130,195,746...130,204,338
Ensembl chr20:130,198,005...130,202,441 		JBrowse link
G CA6 carbonic anhydrase 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:122,777,961...122,817,689
Ensembl chr20:122,777,895...122,810,359 		JBrowse link
G CALML6 calmodulin like 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar
G CAMTA1 calmodulin binding transcription activator 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:123,985,812...124,957,522
Ensembl chr20:123,985,755...124,116,124 		JBrowse link
G CAPZB capping actin protein of muscle Z-line subunit beta ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:113,062,077...113,207,983
Ensembl chr20:113,062,192...113,210,430 		JBrowse link
G CASP9 caspase 9 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:116,772,819...116,798,402
Ensembl chr20:116,772,155...116,798,930 		JBrowse link
G CASZ1 castor zinc finger 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:120,986,451...121,144,311 JBrowse link
G CCDC27 coiled-coil domain containing 27 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:127,905,251...127,927,086
Ensembl chr20:127,905,375...127,926,913 		JBrowse link
G CELA2B chymotrypsin like elastase 2B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:116,802,352...116,815,759
Ensembl chr20:116,801,843...116,815,354 		JBrowse link
G CENPS centromere protein S ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:121,333,554...121,343,893
Ensembl chr20:121,340,995...121,353,902
Ensembl chr20:121,340,995...121,353,902 		JBrowse link
G CEP104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:127,823,789...127,866,172
Ensembl chr20:127,828,995...127,865,544 		JBrowse link
G CFAP107 cilia and flagella associated protein 107 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:119,032,143...119,047,632
Ensembl chr20:119,029,021...119,047,323 		JBrowse link
G CFAP74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:129,555,060...129,626,465 JBrowse link
G CHD5 chromodomain helicase DNA binding protein 5 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:125,558,640...125,635,748
Ensembl chr20:125,558,713...125,631,277 		JBrowse link
G CIROZ ciliated left-right organizer protein containing ZP-N domains ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:120,776,751...120,836,716
Ensembl chr20:120,804,759...120,835,451 		JBrowse link
G CLCN6 chloride voltage-gated channel 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:119,948,442...119,987,553
Ensembl chr20:119,948,448...119,987,419 		JBrowse link
G CLSTN1 calsyntenin 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:121,943,849...122,040,027
Ensembl chr20:121,944,391...122,042,474 		JBrowse link
G CPLANE2 ciliogenesis and planar polarity effector complex subunit 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:116,067,791...116,073,844
Ensembl chr20:116,068,092...116,076,905 		JBrowse link
G CPTP ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr20:130,124,705...130,128,745
Ensembl chr20:130,125,790...130,126,711 		JBrowse link
G CROCC ciliary rootlet coiled-coil, rootletin ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:115,618,768...115,676,786
Ensembl chr20:115,619,307...115,668,112 		JBrowse link
G CTNNBIP1 catenin beta interacting protein 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:121,861,266...121,921,541
Ensembl chr20:121,892,415...121,921,621 		JBrowse link
G CUNH1orf159 chromosome unknown C1orf159 homolog ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr20:130,325,767...130,357,331 JBrowse link
G CUNH1orf167 chromosome unknown C1orf167 homolog ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:120,004,627...120,030,469 JBrowse link
G CUNH1orf174 chromosome unknown C1orf174 homolog ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:127,780,801...127,792,440
Ensembl chr20:127,780,903...127,791,615 		JBrowse link
G DDI2 DNA damage inducible 1 homolog 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:116,640,166...116,680,403 JBrowse link
G DFFA DNA fragmentation factor subunit alpha ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:121,312,291...121,324,055
Ensembl chr20:121,311,954...121,323,402 		JBrowse link
G DFFB DNA fragmentation factor subunit beta ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:127,800,351...127,823,512 JBrowse link
G DHRS3 dehydrogenase/reductase 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:119,183,453...119,236,953
Ensembl chr20:119,184,996...119,237,015 		JBrowse link
G DISP3 dispatched RND transporter family member 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:120,248,601...120,306,345
Ensembl chr20:120,249,500...120,285,936 		JBrowse link
G DNAJC11 DnaJ heat shock protein family (Hsp40) member C11 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:125,043,357...125,113,008
Ensembl chr20:125,043,379...125,111,503 		JBrowse link
G DNAJC16 DnaJ heat shock protein family (Hsp40) member C16 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:116,724,259...116,770,838
Ensembl chr20:116,727,371...116,770,510 		JBrowse link
G DRAXIN dorsal inhibitory axon guidance protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:120,073,073...120,099,835
Ensembl chr20:120,073,430...120,085,279 		JBrowse link
G DVL1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr20:130,105,032...130,118,978
Ensembl chr20:130,104,639...130,117,139 		JBrowse link
G EMC1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:113,306,936...113,338,125
Ensembl chr20:113,307,026...113,337,976 		JBrowse link
G ENO1 enolase 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:122,884,846...122,902,669
Ensembl chr20:122,884,727...122,903,372 		JBrowse link
G EPHA2 EPH receptor A2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:116,147,077...116,178,647
Ensembl chr20:116,147,040...116,178,644 		JBrowse link
G ERRFI1 ERBB receptor feedback inhibitor 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:123,738,971...123,753,575
Ensembl chr20:123,738,973...123,755,809 		JBrowse link
G ESPN espin ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:125,282,283...125,320,436
Ensembl chr20:125,278,313...125,320,365 		JBrowse link
G EXOSC10 exosome component 10 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:120,672,590...120,694,887
Ensembl chr20:120,672,645...120,710,775 		JBrowse link
G FAAP20 FA core complex associated protein 20 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:129,357,043...129,373,409
Ensembl chr20:129,357,089...129,362,518 		JBrowse link
G FBLIM1 filamin binding LIM protein 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:116,518,768...116,545,907
Ensembl chr20:116,518,679...116,546,280 		JBrowse link
G FBXO2 F-box protein 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:120,136,630...120,144,119
Ensembl chr20:120,136,702...120,144,258 		JBrowse link
G FBXO42 F-box protein 42 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:115,971,342...116,056,150
Ensembl chr20:115,971,369...116,059,285 		JBrowse link
G FBXO44 F-box protein 44 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:120,128,422...120,137,081
Ensembl chr20:120,127,750...120,136,395 		JBrowse link
G FBXO6 F-box protein 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:120,116,125...120,127,025
Ensembl chr20:120,116,169...120,126,920 		JBrowse link
G FHAD1 forkhead associated phosphopeptide binding domain 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:116,869,897...117,030,697
Ensembl chr20:116,868,649...116,972,606 		JBrowse link
G FNDC10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868
G GABRD gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:129,530,049...129,541,437
Ensembl chr20:129,529,108...129,541,580 		JBrowse link
G GNB1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr20:129,654,890...129,765,765
Ensembl chr20:129,707,085...129,766,667 		JBrowse link
G GPR153 G protein-coupled receptor 153 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:125,477,931...125,492,938
Ensembl chr20:125,485,382...125,490,935 		JBrowse link
G GPR157 G protein-coupled receptor 157 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:122,631,383...122,650,163
Ensembl chr20:122,632,218...122,649,115 		JBrowse link
G H6PD hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:122,502,084...122,531,214
Ensembl chr20:122,503,687...122,526,074 		JBrowse link
G HES2 hes family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:125,325,043...125,327,076
Ensembl chr20:125,325,167...125,326,107 		JBrowse link
G HES3 hes family bHLH transcription factor 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:125,493,703...125,500,577 JBrowse link
G HES4 hes family bHLH transcription factor 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr20:130,433,355...130,438,589
Ensembl chr20:130,435,291...130,436,213 		JBrowse link
G HES5 hes family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:129,023,750...129,028,790
Ensembl chr20:129,027,370...129,028,065 		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 chr20:116,280,155...116,284,982
Ensembl chr20:116,280,704...116,285,133 		JBrowse link
G HTR6 5-hydroxytryptamine receptor 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:112,873,132...112,887,533
Ensembl chr20:112,874,734...112,887,066 		JBrowse link
G ICMT isoprenylcysteine carboxyl methyltransferase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:125,504,240...125,516,749
Ensembl chr20:125,504,325...125,515,160 		JBrowse link
G IFFO2 intermediate filament family orphan 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:113,610,337...113,657,234 JBrowse link
G IGSF21 immunoglobin superfamily member 21 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:114,186,768...114,458,259
Ensembl chr20:114,186,743...114,458,229 		JBrowse link
G INTS11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr20:130,128,828...130,139,580
Ensembl chr20:130,128,828...130,142,330 		JBrowse link
G ISG15 ISG15 ubiquitin like modifier ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr20:130,419,909...130,421,409
Ensembl chr20:130,419,782...130,421,380 		JBrowse link
G KAZN kazrin, periplakin interacting protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:117,154,382...118,374,021
Ensembl chr20:117,154,375...117,237,882 		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 chr20:125,636,352...125,743,821
Ensembl chr20:125,638,962...125,708,768 		JBrowse link
G KIAA2013 KIAA2013 ortholog ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:119,869,729...119,876,549
Ensembl chr20:119,869,760...119,877,418 		JBrowse link
G KIF1B kinesin family member 1B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:121,393,478...121,567,704
Ensembl chr20:121,395,836...121,546,803 		JBrowse link
G KLHDC7A kelch domain containing 7A ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:114,075,337...114,081,247
Ensembl chr20:114,077,996...114,080,329 		JBrowse link
G KLHL17 kelch like family member 17 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr20:130,467,286...130,472,384
Ensembl chr20:130,467,261...130,471,904 		JBrowse link
G KLHL21 kelch like family member 21 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:125,142,580...125,156,153
Ensembl chr20:125,143,114...125,157,484 		JBrowse link
G LOC103225480 aflatoxin B1 aldehyde reductase member 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:113,234,257...113,242,445 JBrowse link
G LOC103225532 chloride channel protein ClC-Kb ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:116,241,589...116,255,452
Ensembl chr20:116,241,569...116,254,280 		JBrowse link
G LOC103225533 protein FAM131C ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:116,223,237...116,241,144
Ensembl chr20:116,235,177...116,241,379 		JBrowse link
G LOC103225553 EF-hand domain-containing protein D2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:116,843,362...116,863,017
Ensembl chr20:116,843,218...116,863,010 		JBrowse link
G LOC103225579 PRAME family member 12 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:119,014,526...119,019,561
Ensembl chr20:119,015,953...119,018,681 		JBrowse link
G LOC103225737 multiple epidermal growth factor-like domains protein 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:128,075,329...128,195,618 JBrowse link
G LOC103225750 membrane metallo-endopeptidase-like 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:128,916,051...128,963,545
Ensembl chr20:128,921,369...128,963,188 		JBrowse link
G LOC103225783 cyclin-dependent kinase 11B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr20:129,848,297...129,873,287 JBrowse link
G LOC103225792 ATPase family AAA domain containing 3C ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr20:129,997,941...130,008,356 JBrowse link
G LOC103225798 cyclin-L2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr20:130,049,590...130,065,241
Ensembl chr20:130,049,646...130,065,881 		JBrowse link
G LOC103225805 taste receptor type 1 member 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr20:130,119,451...130,122,920
Ensembl chr20:130,119,804...130,122,903 		JBrowse link
G LOC103225977 chymotrypsin-C ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:116,825,105...116,837,192 JBrowse link
G LRRC38 leucine rich repeat containing 38 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:118,747,928...118,789,994
Ensembl chr20:118,748,077...118,788,932 		JBrowse link
G LRRC47 leucine rich repeat containing 47 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:127,881,446...127,896,138
Ensembl chr20:127,881,473...127,895,959 		JBrowse link
G LZIC leucine zipper and CTNNBIP1 domain containing ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:121,823,745...121,832,699
Ensembl chr20:121,823,328...121,835,152 		JBrowse link
G MAD2L2 mitotic arrest deficient 2 like 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:120,099,928...120,115,954
Ensembl chr20:120,110,269...120,116,083 		JBrowse link
G MASP2 MBL associated serine protease 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:120,731,591...120,753,104 JBrowse link
G MFAP2 microfibril associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:115,610,590...115,616,983
Ensembl chr20:115,610,808...115,617,506 		JBrowse link
G MFN2 mitofusin 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:119,787,700...119,818,455
Ensembl chr20:119,787,370...119,816,693 		JBrowse link
G MIB2 MIB E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr20:129,878,014...129,893,239
Ensembl chr20:129,877,142...129,884,894 		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 chr20:112,926,384...112,957,813 JBrowse link
G MIIP migration and invasion inhibitory protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:119,765,873...119,782,019
Ensembl chr20:119,765,869...119,779,868 		JBrowse link
G MMP23B matrix metallopeptidase 23B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr20:129,873,838...129,876,521
Ensembl chr20:129,873,867...129,876,524 		JBrowse link
G MORN1 MORN repeat containing 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:129,163,876...129,231,520
Ensembl chr20:129,169,893...129,231,604 		JBrowse link
G MRPL20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr20:130,042,502...130,047,019 JBrowse link
G MRTO4 MRT4 homolog, ribosome maturation factor ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:113,299,433...113,306,729
Ensembl chr20:113,299,708...113,306,704 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950 		JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:120,522,667...120,678,988
Ensembl chr20:120,525,737...120,679,020 		JBrowse link
G MXRA8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr20:130,092,280...130,102,819
Ensembl chr20:130,096,289...130,104,551 		JBrowse link
G NADK NAD kinase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr20:129,770,575...129,800,914
Ensembl chr20:129,769,822...129,803,817 		JBrowse link
G NBL1 NBL1, DAN family BMP antagonist ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:112,893,928...112,908,041
Ensembl chr20:112,893,633...112,897,355 		JBrowse link
G NECAP2 NECAP endocytosis associated 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:115,865,118...115,882,157
Ensembl chr20:115,864,746...115,882,392 		JBrowse link
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:121,790,836...121,797,043 JBrowse link
G NOC2L NOC2 like nucleolar associated transcriptional repressor ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr20:130,473,526...130,488,570
Ensembl chr20:130,473,547...130,490,907 		JBrowse link
G NOL9 nucleolar protein 9 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:125,188,185...125,215,984
Ensembl chr20:125,188,275...125,215,685 		JBrowse link
G NPHP4 nephrocystin 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:125,739,075...125,878,088
Ensembl chr20:125,744,295...125,874,482 		JBrowse link
G NPPA natriuretic peptide A ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:119,942,412...119,946,211
Ensembl chr20:119,944,532...119,945,917 		JBrowse link
G NPPB natriuretic peptide B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:119,930,931...119,933,391
Ensembl chr20:119,932,021...119,933,197 		JBrowse link
G OTUD3 OTU deubiquitinase 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:112,642,979...112,673,435
Ensembl chr20:112,648,143...112,672,819 		JBrowse link
G PADI1 peptidyl arginine deiminase 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:115,341,430...115,388,234
Ensembl chr20:115,343,203...115,381,634 		JBrowse link
G PADI2 peptidyl arginine deiminase 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:115,465,098...115,520,772
Ensembl chr20:115,465,338...115,520,828 		JBrowse link
G PADI3 peptidyl arginine deiminase 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:115,300,975...115,339,002
Ensembl chr20:115,302,123...115,338,551 		JBrowse link
G PADI4 peptidyl arginine deiminase 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:115,212,214...115,262,634
Ensembl chr20:115,212,254...115,262,581 		JBrowse link
G PADI6 peptidyl arginine deiminase 6 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:115,174,421...115,207,721
Ensembl chr20:115,176,446...115,207,106 		JBrowse link
G PANK4 pantothenate kinase 4 (inactive) ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:129,030,853...129,050,944
Ensembl chr20:129,030,904...129,050,636 		JBrowse link
G PARK7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:123,776,084...123,808,031
Ensembl chr20:123,776,297...123,798,434 		JBrowse link
G PAX7 paired box 7 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:113,810,646...113,929,136
Ensembl chr20:113,823,392...113,928,548 		JBrowse link
G PDPN podoplanin ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:118,644,060...118,679,508
Ensembl chr20:118,644,051...118,679,311 		JBrowse link
G PER3 period circadian regulator 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:123,912,773...123,970,440
Ensembl chr20:123,912,208...123,970,549 		JBrowse link
G PERM1 PPARGC1 and ESRR induced regulator, muscle 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr20:130,445,002...130,457,663
Ensembl chr20:130,452,807...130,458,732 		JBrowse link
G PEX10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:129,145,587...129,155,687
Ensembl chr20:129,145,638...129,153,968 		JBrowse link
G PEX14 peroxisomal biogenesis factor 14 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:121,152,514...121,309,888
Ensembl chr20:121,152,498...121,309,919 		JBrowse link
G PGD phosphogluconate dehydrogenase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:121,359,854...121,380,934 JBrowse link
G PHF13 PHD finger protein 13 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:125,122,118...125,133,013
Ensembl chr20:125,121,886...125,132,966 		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 chr20:122,040,131...122,111,397
Ensembl chr20:122,041,963...122,078,504 		JBrowse link
G PLA2G2A phospholipase A2 group IIA ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:112,564,414...112,569,735
Ensembl chr20:112,565,165...112,569,786 		JBrowse link
G PLA2G2C phospholipase A2 group IIC ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:112,365,898...112,389,268
Ensembl chr20:112,375,528...112,389,008 		JBrowse link
G PLA2G2D phospholipase A2 group IID ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:112,434,208...112,441,215
Ensembl chr20:112,434,276...112,441,249 		JBrowse link
G PLA2G2E phospholipase A2 group IIE ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:112,632,404...112,636,571
Ensembl chr20:112,632,759...112,635,992 		JBrowse link
G PLA2G2F phospholipase A2 group IIF ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:112,402,892...112,428,971
Ensembl chr20:112,401,601...112,424,824 		JBrowse link
G PLA2G5 phospholipase A2 group V ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:112,465,341...112,487,082
Ensembl chr20:112,464,033...112,487,089 		JBrowse link
G PLCH2 phospholipase C eta 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:129,053,571...129,127,238 JBrowse link
G PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:125,223,074...125,276,115
Ensembl chr20:125,244,593...125,275,676 		JBrowse link
G PLEKHM2 pleckstrin homology and RUN domain containing M2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:116,569,780...116,612,906
Ensembl chr20:116,570,613...116,612,880 		JBrowse link
G PLEKHN1 pleckstrin homology domain containing N1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr20:130,456,993...130,467,189
Ensembl chr20:130,458,267...130,466,472 		JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:119,824,380...119,865,866 JBrowse link
G PRAMEF10 PRAME family member 10 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:118,979,617...118,982,226 JBrowse link
G PRDM16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:128,249,894...128,613,842 JBrowse link
G PRDM2 PR/SET domain 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:118,437,171...118,565,554
Ensembl chr20:118,436,717...118,550,461 		JBrowse link
G PRKCZ protein kinase C zeta ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:129,367,309...129,502,681
Ensembl chr20:129,365,679...129,485,818 		JBrowse link
G PRXL2B peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:128,964,750...128,969,469
Ensembl chr20:128,964,987...128,967,620 		JBrowse link
G PUSL1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr20:130,139,479...130,142,819
Ensembl chr20:130,139,480...130,142,342 		JBrowse link
G RBP7 retinol binding protein 7 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:121,755,222...121,796,855
Ensembl chr20:121,751,290...121,774,377 		JBrowse link
G RCC2 regulator of chromosome condensation 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:115,139,279...115,171,872 JBrowse link
G RER1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:129,155,902...129,169,648
Ensembl chr20:129,156,067...129,169,597 		JBrowse link
G RERE arginine-glutamic acid dipeptide repeats ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:122,946,759...123,408,428
Ensembl chr20:123,109,364...123,408,631 		JBrowse link
G RNF186 ring finger protein 186 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:112,729,333...112,732,063
Ensembl chr20:112,731,000...112,731,683 		JBrowse link
G RNF207 ring finger protein 207 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:125,518,231...125,530,249 JBrowse link
G RNF223 ring finger protein 223 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr20:130,359,448...130,365,430
Ensembl chr20:130,364,349...130,365,098 		JBrowse link
G RPL22 ribosomal protein L22 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:125,539,503...125,553,775 JBrowse link
G RSC1A1 regulator of solute carriers 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:116,634,821...116,640,166 JBrowse link
G SAMD11 sterile alpha motif domain containing 11 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr20:130,488,810...130,510,621 JBrowse link
G SCNN1D sodium channel epithelial 1 subunit delta ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr20:130,158,282...130,169,479 JBrowse link
G SDF4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr20:130,212,962...130,228,831
Ensembl chr20:130,216,225...130,228,962 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:115,537,880...115,571,150
Ensembl chr20:115,538,026...115,571,142 		JBrowse link
G SKI SKI proto-oncogene ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:129,243,033...129,324,162
Ensembl chr20:129,242,445...129,324,138 		JBrowse link
G SLC25A33 solute carrier family 25 member 33 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:122,187,366...122,220,903
Ensembl chr20:122,187,637...122,220,661 		JBrowse link
G SLC25A34 solute carrier family 25 member 34 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:116,564,687...116,568,695
Ensembl chr20:116,565,024...116,567,981 		JBrowse link
G SLC2A5 solute carrier family 2 member 5 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:122,669,220...122,714,708
Ensembl chr20:122,683,373...122,716,540 		JBrowse link
G SLC2A7 solute carrier family 2 member 7 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:122,724,595...122,749,456
Ensembl chr20:122,725,001...122,748,899 		JBrowse link
G SLC35E2B solute carrier family 35 member E2B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr20:129,808,281...129,843,006
Ensembl chr20:129,824,956...129,846,114 		JBrowse link
G SLC45A1 solute carrier family 45 member 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:123,416,912...123,443,016
Ensembl chr20:123,416,882...123,442,548 		JBrowse link
G SLC66A1 solute carrier family 66 member 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:113,217,379...113,234,176
Ensembl chr20:113,216,715...113,233,964 		JBrowse link
G SMIM1 small integral membrane protein 1 (Vel blood group) ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:127,900,506...127,904,242
Ensembl chr20:127,900,976...127,903,371 		JBrowse link
G SPATA21 spermatogenesis associated 21 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:115,889,975...115,933,026
Ensembl chr20:115,891,903...115,929,898 		JBrowse link
G SPEN spen family transcriptional repressor ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:116,359,981...116,458,156
Ensembl chr20:116,361,008...116,458,064 		JBrowse link
G SPSB1 splA/ryanodine receptor domain and SOCS box containing 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:122,398,856...122,474,175
Ensembl chr20:122,396,931...122,474,190 		JBrowse link
G SRARP steroid receptor associated and regulated protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:116,293,054...116,296,291
Ensembl chr20:116,293,000...116,295,874 		JBrowse link
G SRM spermidine synthase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:120,718,265...120,723,694
Ensembl chr20:120,718,424...120,723,944 		JBrowse link
G SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr20:129,922,992...129,958,551
Ensembl chr20:129,923,091...129,958,712 		JBrowse link
G SZRD1 SUZ RNA binding domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:115,930,518...115,965,023
Ensembl chr20:115,933,259...115,937,803 		JBrowse link
G TARDBP TAR DNA binding protein ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:120,753,764...120,765,259 JBrowse link
G TAS1R1 taste 1 receptor member 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:125,167,280...125,188,333
Ensembl chr20:125,167,452...125,187,383 		JBrowse link
G TAS1R2 taste 1 receptor member 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:113,704,656...113,727,304
Ensembl chr20:113,705,185...113,726,853 		JBrowse link
G THAP3 THAP domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:125,112,772...125,121,578
Ensembl chr20:125,114,104...125,120,955 		JBrowse link
G TMCO4 transmembrane and coiled-coil domains 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:112,747,938...112,871,894
Ensembl chr20:112,748,527...112,872,322 		JBrowse link
G TMEM201 transmembrane protein 201 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:122,155,430...122,181,624
Ensembl chr20:122,157,166...122,181,446 		JBrowse link
G TMEM240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr20:129,959,081...129,965,352
Ensembl chr20:129,959,462...129,965,375 		JBrowse link
G TMEM278 transmembrane protein 278 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr20:130,028,526...130,031,739
Ensembl chr20:130,026,134...130,030,985 		JBrowse link
G TMEM51 transmembrane protein 51 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:117,057,215...117,128,428
Ensembl chr20:117,057,041...117,127,184 		JBrowse link
G TMEM52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar
G TMEM82 transmembrane protein 82 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:116,554,156...116,562,703 JBrowse link
G TNFRSF14 TNF receptor superfamily member 14 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:128,992,572...128,999,829
Ensembl chr20:128,992,489...129,000,338 		JBrowse link
G TNFRSF18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr20:130,237,950...130,243,303
Ensembl chr20:130,225,847...130,242,251 		JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:119,590,621...119,633,562
Ensembl chr20:119,590,325...119,633,497 		JBrowse link
G TNFRSF25 TNF receptor superfamily member 25 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:125,276,632...125,282,090
Ensembl chr20:125,277,680...125,281,995 		JBrowse link
G TNFRSF4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr20:130,231,064...130,234,525
Ensembl chr20:130,231,584...130,234,313 		JBrowse link
G TNFRSF8 TNF receptor superfamily member 8 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:119,656,183...119,736,151
Ensembl chr20:119,657,614...119,715,078 		JBrowse link
G TNFRSF9 TNF receptor superfamily member 9 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:123,808,289...123,839,957
Ensembl chr20:123,820,342...123,838,987 		JBrowse link
G TP73 tumor protein p73 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:127,958,002...128,035,792
Ensembl chr20:127,958,809...128,013,691 		JBrowse link
G TPRG1L tumor protein p63 regulated 1 like ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:128,057,629...128,062,545
Ensembl chr20:128,059,137...128,062,455 		JBrowse link
G TTLL10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr20:130,247,309...130,270,452 JBrowse link
G UBE2J2 ubiquitin conjugating enzyme E2 J2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr20:130,174,207...130,192,723
Ensembl chr20:130,174,223...130,195,150 		JBrowse link
G UBE4B ubiquitination factor E4B ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:121,597,775...121,744,986 JBrowse link
G UBIAD1 UbiA prenyltransferase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:120,499,210...120,512,759
Ensembl chr20:120,496,075...120,512,748 		JBrowse link
G UBR4 ubiquitin protein ligase E3 component n-recognin 4 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:113,354,561...113,493,936
Ensembl chr20:113,355,676...113,494,386 		JBrowse link
G UBXN10 UBX domain protein 10 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:112,358,789...112,369,723
Ensembl chr20:112,360,893...112,361,732 		JBrowse link
G UTS2 urotensin 2 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:123,903,137...123,910,180 JBrowse link
G VAMP3 vesicle associated membrane protein 3 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:123,973,672...123,984,230
Ensembl chr20:123,971,992...123,984,187 		JBrowse link
G VPS13D vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:119,289,515...119,573,504
Ensembl chr20:119,288,989...119,569,221 		JBrowse link
G VWA1 von Willebrand factor A domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar PMID:25741868 NCBI chr20:130,016,802...130,023,138
Ensembl chr20:130,014,754...130,021,822 		JBrowse link
G WRAP73 WD repeat containing, antisense to TP73 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:128,037,727...128,056,981
Ensembl chr20:128,037,821...128,056,770 		JBrowse link
G ZBTB17 zinc finger and BTB domain containing 17 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:116,324,794...116,358,600 JBrowse link
G ZBTB48 zinc finger and BTB domain containing 48 ISO ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome ClinVar NCBI chr20:125,157,938...125,167,037
Ensembl chr20:125,157,860...125,167,014 		JBrowse link
chromosome 1q21.1 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACP6 acid phosphatase 6, lysophosphatidic ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar
G BCL9 BCL9 transcription coactivator ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar
G CHD1L chromodomain helicase DNA binding protein 1 like ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar
G FMO5 flavin containing dimethylaniline monoxygenase 5 ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar
G GJA5 gap junction protein alpha 5 ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar PMID:25741868 PMID:28492532
G GJA8 gap junction protein alpha 8 ISO ClinVar Annotator: match by term: 1q21.1 Deletion | ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar PMID:25741868 PMID:26694549 PMID:28492532 PMID:28827829 PMID:29464339
G PRKAB2 protein kinase AMP-activated non-catalytic subunit beta 2 ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar
chromosome 1q41-q42 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP53BP2 tumor protein p53 binding protein 2 ISO OMIM:612530 MouseDO NCBI chr25:5,774,037...5,841,620
Ensembl chr25:5,774,063...5,841,709 		JBrowse link
chromosome 22q11.2 deletion syndrome, distal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIFM3 AIF family member 3 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr19:4,901,118...4,917,290
Ensembl chr19:4,904,050...4,918,224 		JBrowse link
G ARVCF ARVCF delta catenin family member ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr19:5,721,887...5,775,910
Ensembl chr19:5,755,146...5,775,109 		JBrowse link
G BCR BCR activator of RhoGEF and GTPase ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:25741868 PMID:38177409 NCBI chr19:2,569,841...2,703,703
Ensembl chr19:2,566,190...2,702,920 		JBrowse link
G CCDC116 coiled-coil domain containing 116 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr19:4,472,976...4,478,265
Ensembl chr19:4,473,531...4,477,137 		JBrowse link
G CCDC188 coiled-coil domain containing 188 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr19:5,589,399...5,592,135 JBrowse link
G CDC45 cell division cycle 45 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr19:6,232,610...6,275,743
Ensembl chr19:6,231,591...6,275,294 		JBrowse link
G CLDN5 claudin 5 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr19:6,227,881...6,230,199
Ensembl chr19:6,228,965...6,229,621 		JBrowse link
G CLTCL1 clathrin heavy chain like 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr19:6,455,178...6,568,930
Ensembl chr19:6,455,248...6,573,058 		JBrowse link
G COMT catechol-O-methyltransferase ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr19:5,775,829...5,803,260
Ensembl chr19:5,773,225...5,785,422 		JBrowse link
G CRKL CRK like proto-oncogene, adaptor protein ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835
G CUNH22orf39 chromosome unknown C22orf39 homolog ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr19:6,307,277...6,312,609
Ensembl chr19:6,307,916...6,311,459 		JBrowse link
G DGCR2 DiGeorge syndrome critical region gene 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr19:6,628,092...6,710,070
Ensembl chr19:6,628,096...6,707,507 		JBrowse link
G DGCR6L DiGeorge syndrome critical region gene 6 like ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr19:2,436,534...2,441,930 JBrowse link
G DGCR8 DGCR8 microprocessor complex subunit ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr19:5,627,924...5,657,773
Ensembl chr19:5,629,684...5,652,191 		JBrowse link
G ESS2 ess-2 splicing factor homolog ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr19:6,604,275...6,615,316
Ensembl chr19:6,604,345...6,615,055 		JBrowse link
G GNAZ G protein subunit alpha z ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:25741868 PMID:38177409 NCBI chr19:2,758,097...2,812,306
Ensembl chr19:2,757,819...2,788,076 		JBrowse link
G GNB1L G protein subunit beta 1 like ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr19:5,889,395...5,959,515
Ensembl chr19:5,890,567...5,959,510 		JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr19:6,020,618...6,021,646 JBrowse link
G GSC2 goosecoid homeobox 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr19:6,598,246...6,601,230
Ensembl chr19:6,598,259...6,599,532 		JBrowse link
G HIC2 HIC ZBTB transcriptional repressor 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:25741868 PMID:38177409 NCBI chr19:4,584,633...4,622,519
Ensembl chr19:4,613,833...4,617,835 		JBrowse link
G HIRA histone cell cycle regulator ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr19:6,324,050...6,424,999
Ensembl chr19:6,324,253...6,425,641 		JBrowse link
G KLHL22 kelch like family member 22 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr19:5,211,732...5,264,953
Ensembl chr19:5,218,653...5,265,063 		JBrowse link
G LOC103222901 radial spoke head 14 homolog ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:25741868 PMID:38177409 NCBI chr19:2,740,897...2,824,054
Ensembl chr19:2,741,212...2,824,031 		JBrowse link
G LOC103226816 ATP-binding cassette sub-family A member 3 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:28492532 NCBI chr 5:2,171,487...2,218,851 JBrowse link
G LRRC74B leucine rich repeat containing 74B ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr19:4,988,262...5,005,253
Ensembl chr19:4,988,805...5,004,819 		JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr19:4,917,381...4,935,174
Ensembl chr19:4,918,360...4,933,439 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr19:4,246,144...4,352,648
Ensembl chr19:4,246,122...4,353,325 		JBrowse link
G MED15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr19:5,111,512...5,195,677
Ensembl chr19:5,112,435...5,167,139 		JBrowse link
G MRPL40 mitochondrial ribosomal protein L40 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr19:6,319,745...6,323,955
Ensembl chr19:6,319,263...6,323,799 		JBrowse link
G P2RX6 purinergic receptor P2X 6 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr19:4,958,713...4,969,443
Ensembl chr19:4,958,671...4,969,724 		JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr19:4,648,184...4,797,573
Ensembl chr19:4,648,183...4,797,396 		JBrowse link
G PPIL2 peptidylprolyl isomerase like 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr19:4,412,575...4,448,759
Ensembl chr19:4,414,953...4,445,891 		JBrowse link
G PPM1F protein phosphatase, Mg2+/Mn2+ dependent 1F ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr19:4,167,925...4,200,550
Ensembl chr19:4,167,908...4,200,953 		JBrowse link
G RAB36 RAB36, member RAS oncogene family ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:25741868 PMID:38177409 NCBI chr19:2,720,771...2,737,989
Ensembl chr19:2,718,883...2,737,602 		JBrowse link
G RANBP1 RAN binding protein 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr19:5,611,968...5,622,414
Ensembl chr19:5,612,268...5,622,191 		JBrowse link
G RTL10 retrotransposon Gag like 10 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr19:5,890,989...5,895,243 JBrowse link
G RTN4R reticulon 4 receptor ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr19:5,469,854...5,497,858 JBrowse link
G SCARF2 scavenger receptor class F member 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr19:5,265,730...5,282,092
Ensembl chr19:5,268,630...5,282,092 		JBrowse link
G SDF2L1 stromal cell derived factor 2 like 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr19:4,465,795...4,467,882
Ensembl chr19:4,465,797...4,467,761 		JBrowse link
G SEPTIN5 septin 5 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr19:6,022,074...6,030,880
Ensembl chr19:6,020,917...6,030,821 		JBrowse link
G SERPIND1 serpin family D member 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr19:4,709,896...4,724,620
Ensembl chr19:4,715,806...4,726,111 		JBrowse link
G SLC25A1 solute carrier family 25 member 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr19:6,569,627...6,572,872 JBrowse link
G SLC7A4 solute carrier family 7 member 4 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr19:4,970,147...4,973,603
Ensembl chr19:4,970,483...4,973,230 		JBrowse link
G SNAP29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr19:4,797,690...4,827,573
Ensembl chr19:4,797,725...4,830,251 		JBrowse link
G TANGO2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr19:5,672,758...5,717,574
Ensembl chr19:5,672,180...5,701,361 		JBrowse link
G TBX1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr19:5,980,114...5,986,313
Ensembl chr19:5,980,587...5,987,244 		JBrowse link
G THAP7 THAP domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr19:4,935,872...4,938,181
Ensembl chr19:4,935,976...4,938,152 		JBrowse link
G TMEM191C transmembrane protein 191C ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr19:4,642,322...4,645,078 JBrowse link
G TOP3B DNA topoisomerase III beta ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr19:4,137,823...4,163,860
Ensembl chr19:4,137,862...4,166,436 		JBrowse link
G TRMT2A tRNA methyltransferase 2 homolog A ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr19:5,622,542...5,627,923
Ensembl chr19:5,622,630...5,627,257 		JBrowse link
G TSSK2 testis specific serine kinase 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr19:6,617,030...6,618,932
Ensembl chr19:6,617,256...6,618,344 		JBrowse link
G TXNRD2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr19:5,803,178...5,868,224
Ensembl chr19:5,813,099...5,866,674 		JBrowse link
G UBE2L3 ubiquitin conjugating enzyme E2 L3 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr19:4,485,960...4,538,838 JBrowse link
G UFD1 ubiquitin recognition factor in ER associated degradation 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr19:6,275,834...6,305,940
Ensembl chr19:6,275,844...6,308,035 		JBrowse link
G YDJC YdjC chitooligosaccharide deacetylase homolog ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr19:4,479,690...4,481,915
Ensembl chr19:4,479,985...4,481,586 		JBrowse link
G YPEL1 yippee like 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr19:4,378,483...4,409,498
Ensembl chr19:4,400,451...4,409,228 		JBrowse link
G ZDHHC8 zDHHC palmitoyltransferase 8 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr19:5,591,311...5,607,448
Ensembl chr19:5,589,090...5,607,387 		JBrowse link
G ZNF280A zinc finger protein 280A ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr19:3,457,060...3,463,629
Ensembl chr19:3,461,735...3,463,363 		JBrowse link
G ZNF280B zinc finger protein 280B ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106 PMID:25741868 PMID:31690835 PMID:38177409 NCBI chr19:3,468,032...3,491,475
Ensembl chr19:3,484,232...3,485,863 		JBrowse link
G ZNF74 zinc finger protein 74 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:31690835 NCBI chr19:5,302,966...5,318,084 JBrowse link
chromosome 22q11.2 microduplication syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIFM3 AIF family member 3 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr19:4,901,118...4,917,290
Ensembl chr19:4,904,050...4,918,224 		JBrowse link
G ARVCF ARVCF delta catenin family member ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr19:5,721,887...5,775,910
Ensembl chr19:5,755,146...5,775,109 		JBrowse link
G CCDC188 coiled-coil domain containing 188 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr19:5,589,399...5,592,135 JBrowse link
G CDC45 cell division cycle 45 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr19:6,232,610...6,275,743
Ensembl chr19:6,231,591...6,275,294 		JBrowse link
G CLDN5 claudin 5 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr19:6,227,881...6,230,199
Ensembl chr19:6,228,965...6,229,621 		JBrowse link
G CLTCL1 clathrin heavy chain like 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr19:6,455,178...6,568,930
Ensembl chr19:6,455,248...6,573,058 		JBrowse link
G COMT catechol-O-methyltransferase ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr19:5,775,829...5,803,260
Ensembl chr19:5,773,225...5,785,422 		JBrowse link
G CRKL CRK like proto-oncogene, adaptor protein ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835
G CUNH22orf39 chromosome unknown C22orf39 homolog ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr19:6,307,277...6,312,609
Ensembl chr19:6,307,916...6,311,459 		JBrowse link
G DGCR2 DiGeorge syndrome critical region gene 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr19:6,628,092...6,710,070
Ensembl chr19:6,628,096...6,707,507 		JBrowse link
G DGCR6L DiGeorge syndrome critical region gene 6 like ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr19:2,436,534...2,441,930 JBrowse link
G DGCR8 DGCR8 microprocessor complex subunit ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr19:5,627,924...5,657,773
Ensembl chr19:5,629,684...5,652,191 		JBrowse link
G ESS2 ess-2 splicing factor homolog ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr19:6,604,275...6,615,316
Ensembl chr19:6,604,345...6,615,055 		JBrowse link
G GNB1L G protein subunit beta 1 like ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr19:5,889,395...5,959,515
Ensembl chr19:5,890,567...5,959,510 		JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr19:6,020,618...6,021,646 JBrowse link
G GSC2 goosecoid homeobox 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr19:6,598,246...6,601,230
Ensembl chr19:6,598,259...6,599,532 		JBrowse link
G HIRA histone cell cycle regulator ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr19:6,324,050...6,424,999
Ensembl chr19:6,324,253...6,425,641 		JBrowse link
G KLHL22 kelch like family member 22 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr19:5,211,732...5,264,953
Ensembl chr19:5,218,653...5,265,063 		JBrowse link
G LRRC74B leucine rich repeat containing 74B ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr19:4,988,262...5,005,253
Ensembl chr19:4,988,805...5,004,819 		JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr19:4,917,381...4,935,174
Ensembl chr19:4,918,360...4,933,439 		JBrowse link
G MED15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr19:5,111,512...5,195,677
Ensembl chr19:5,112,435...5,167,139 		JBrowse link
G MRPL40 mitochondrial ribosomal protein L40 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr19:6,319,745...6,323,955
Ensembl chr19:6,319,263...6,323,799 		JBrowse link
G P2RX6 purinergic receptor P2X 6 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr19:4,958,713...4,969,443
Ensembl chr19:4,958,671...4,969,724 		JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr19:4,648,184...4,797,573
Ensembl chr19:4,648,183...4,797,396 		JBrowse link
G RANBP1 RAN binding protein 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr19:5,611,968...5,622,414
Ensembl chr19:5,612,268...5,622,191 		JBrowse link
G RTL10 retrotransposon Gag like 10 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr19:5,890,989...5,895,243 JBrowse link
G RTN4R reticulon 4 receptor ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr19:5,469,854...5,497,858 JBrowse link
G SCARF2 scavenger receptor class F member 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr19:5,265,730...5,282,092
Ensembl chr19:5,268,630...5,282,092 		JBrowse link
G SEPTIN5 septin 5 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr19:6,022,074...6,030,880
Ensembl chr19:6,020,917...6,030,821 		JBrowse link
G SERPIND1 serpin family D member 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr19:4,709,896...4,724,620
Ensembl chr19:4,715,806...4,726,111 		JBrowse link
G SLC25A1 solute carrier family 25 member 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr19:6,569,627...6,572,872 JBrowse link
G SLC7A4 solute carrier family 7 member 4 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr19:4,970,147...4,973,603
Ensembl chr19:4,970,483...4,973,230 		JBrowse link
G SNAP29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr19:4,797,690...4,827,573
Ensembl chr19:4,797,725...4,830,251 		JBrowse link
G TANGO2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr19:5,672,758...5,717,574
Ensembl chr19:5,672,180...5,701,361 		JBrowse link
G TBX1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr19:5,980,114...5,986,313
Ensembl chr19:5,980,587...5,987,244 		JBrowse link
G THAP7 THAP domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr19:4,935,872...4,938,181
Ensembl chr19:4,935,976...4,938,152 		JBrowse link
G TRMT2A tRNA methyltransferase 2 homolog A ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr19:5,622,542...5,627,923
Ensembl chr19:5,622,630...5,627,257 		JBrowse link
G TSSK2 testis specific serine kinase 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr19:6,617,030...6,618,932
Ensembl chr19:6,617,256...6,618,344 		JBrowse link
G TXNRD2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr19:5,803,178...5,868,224
Ensembl chr19:5,813,099...5,866,674 		JBrowse link
G UFD1 ubiquitin recognition factor in ER associated degradation 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr19:6,275,834...6,305,940
Ensembl chr19:6,275,844...6,308,035 		JBrowse link
G ZDHHC8 zDHHC palmitoyltransferase 8 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr19:5,591,311...5,607,448
Ensembl chr19:5,589,090...5,607,387 		JBrowse link
G ZNF74 zinc finger protein 74 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr19:5,302,966...5,318,084 JBrowse link
chromosome 2p16.1-p15 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G USP34 ubiquitin specific peptidase 34 ISO ClinVar Annotator: match by term: Chromosome 2p16.1-p15 deletion syndrome ClinVar NCBI chr14:45,516,555...45,798,676
Ensembl chr14:45,516,587...45,798,054 		JBrowse link
CHROMOSOME 2p16.3 DELETION SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NRXN1 neurexin 1 susceptibility ISO ClinVar Annotator: match by term: Chromosome 2P16.3 deletion syndrome | ClinVar Annotator: match by term: Chromosome 2p16.3 deletion syndrome ClinVar
OMIM		 PMID:18179900 PMID:18945720 PMID:21681106 PMID:23495017 PMID:25741868 More... NCBI chr14:56,051,849...57,202,334 JBrowse link
chromosome 2q37 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGXT alanine--glyoxylate and serine--pyruvate aminotransferase ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:126,933,711...126,943,980
Ensembl chr10:126,933,835...126,944,354 		JBrowse link
G ANKMY1 ankyrin repeat and MYND domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:126,497,222...126,587,003
Ensembl chr10:126,516,510...126,583,449 		JBrowse link
G ANO7 anoctamin 7 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:127,249,352...127,285,485
Ensembl chr10:127,249,970...127,285,409 		JBrowse link
G AQP12B aquaporin 12B ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:126,706,221...126,714,821 JBrowse link
G ASB1 ankyrin repeat and SOCS box containing 1 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:124,456,993...124,479,904
Ensembl chr10:124,456,492...124,478,600 		JBrowse link
G ATG4B autophagy related 4B cysteine peptidase ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:127,689,577...127,720,232 JBrowse link
G BOK BCL2 family apoptosis regulator BOK ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:127,621,936...127,634,091
Ensembl chr10:127,622,149...127,635,833 		JBrowse link
G CAPN10 calpain 10 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:126,613,722...126,626,388 JBrowse link
G COL6A3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:123,326,337...123,418,836
Ensembl chr10:123,327,102...123,400,114 		JBrowse link
G COPS8 COP9 signalosome subunit 8 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:123,075,589...123,089,209 JBrowse link
G COPS9 COP9 signalosome subunit 9 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:126,163,883...126,169,915 JBrowse link
G CROCC2 ciliary rootlet coiled-coil, rootletin family member 2 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:126,983,470...127,052,328 JBrowse link
G D2HGDH D-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:127,778,198...127,810,614
Ensembl chr10:127,778,503...127,811,035 		JBrowse link
G DTYMK deoxythymidylate kinase ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:127,722,091...127,733,662
Ensembl chr10:127,721,784...127,733,476 		JBrowse link
G DUSP28 dual specificity phosphatase 28 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:126,587,748...126,592,419
Ensembl chr10:126,588,867...126,589,861 		JBrowse link
G ERFE erythroferrone ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:124,180,014...124,190,445
Ensembl chr10:124,180,126...124,188,669 		JBrowse link
G ESPNL espin like ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:124,122,495...124,152,355
Ensembl chr10:124,123,379...124,152,127 		JBrowse link
G FAM240C family with sequence similarity 240 member C ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868
G FARP2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:127,422,843...127,570,848
Ensembl chr10:127,422,870...127,573,801 		JBrowse link
G GAL3ST2 galactose-3-O-sulfotransferase 2 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:127,811,609...127,844,393
Ensembl chr10:127,837,189...127,842,906 		JBrowse link
G GPC1 glypican 1 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:126,464,383...126,496,686
Ensembl chr10:126,464,801...126,497,897 		JBrowse link
G GPR35 G protein-coupled receptor 35 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:126,653,754...126,661,106
Ensembl chr10:126,658,185...126,659,114 		JBrowse link
G HDAC4 histone deacetylase 4 ISO ClinVar Annotator: match by term: 2q37 microdeletion syndrome | ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:10958686 PMID:11486037 PMID:20691407 PMID:23188045 PMID:24715439 More... NCBI chr10:125,098,375...125,450,524
Ensembl chr10:125,098,366...125,403,227 		JBrowse link
G HDLBP high density lipoprotein binding protein ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:127,289,390...127,378,895
Ensembl chr10:127,288,331...127,378,986 		JBrowse link
G HES6 hes family bHLH transcription factor 6 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:124,263,894...124,266,345
Ensembl chr10:124,264,456...124,265,542 		JBrowse link
G ILKAP ILK associated serine/threonine phosphatase ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:124,191,926...124,225,735
Ensembl chr10:124,190,785...124,225,678 		JBrowse link
G ING5 inhibitor of growth family member 5 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:127,733,768...127,770,794
Ensembl chr10:127,746,546...127,774,244 		JBrowse link
G KIF1A kinesin family member 1A ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:126,784,843...126,890,649
Ensembl chr10:126,781,589...126,867,219 		JBrowse link
G KLHL30 kelch like family member 30 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:124,157,815...124,174,204
Ensembl chr10:124,161,796...124,175,409 		JBrowse link
G LINC02991 long intergenic non-protein coding RNA 2991 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:125,628,221...125,635,273 JBrowse link
G LRRFIP1 LRR binding FLII interacting protein 1 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:123,632,545...123,806,348
Ensembl chr10:123,707,283...123,809,140 		JBrowse link
G MAB21L4 mab-21 like 4 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:126,952,353...126,964,319
Ensembl chr10:126,949,416...126,962,277 		JBrowse link
G MLPH melanophilin ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:123,489,777...123,562,037
Ensembl chr10:123,491,702...123,562,906 		JBrowse link
G MTERF4 mitochondrial transcription termination factor 4 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:127,145,903...127,152,721
Ensembl chr10:127,146,466...127,152,655 		JBrowse link
G NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:126,018,383...126,082,847
Ensembl chr10:126,015,852...126,083,082 		JBrowse link
G NEU4 neuraminidase 4 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:127,845,536...127,852,873
Ensembl chr10:127,847,391...127,852,519 		JBrowse link
G OTOS otospiralin ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:126,172,046...126,173,975
Ensembl chr10:126,172,191...126,173,348 		JBrowse link
G PASK PAS domain containing serine/threonine kinase ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:127,156,577...127,206,745
Ensembl chr10:127,156,558...127,199,845 		JBrowse link
G PDCD1 programmed cell death 1 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:127,877,383...127,886,234
Ensembl chr10:127,878,554...127,886,088 		JBrowse link
G PER2 period circadian regulator 2 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:124,270,917...124,316,031
Ensembl chr10:124,269,543...124,315,904 		JBrowse link
G PPP1R7 protein phosphatase 1 regulatory subunit 7 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:127,206,233...127,243,577 JBrowse link
G PRLH prolactin releasing hormone ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868
G RAB17 RAB17, member RAS oncogene family ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:123,579,771...123,603,355
Ensembl chr10:123,580,621...123,594,374 		JBrowse link
G RAMP1 receptor activity modifying protein 1 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:123,873,597...123,931,215
Ensembl chr10:123,873,351...123,931,248 		JBrowse link
G RBM44 RNA binding motif protein 44 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:123,816,053...123,861,117
Ensembl chr10:123,831,247...123,852,787 		JBrowse link
G RNPEPL1 arginyl aminopeptidase like 1 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:126,596,889...126,606,216
Ensembl chr10:126,596,984...126,606,290 		JBrowse link
G RTP5 receptor transporter protein 5 (putative) ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:127,896,387...127,900,889
Ensembl chr10:127,896,981...127,900,516 		JBrowse link
G SCLY selenocysteine lyase ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:124,082,522...124,122,401
Ensembl chr10:124,082,598...124,122,461 		JBrowse link
G SEPTIN2 septin 2 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:127,378,393...127,421,012
Ensembl chr10:127,387,280...127,421,201 		JBrowse link
G SNED1 sushi, nidogen and EGF like domains 1 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:127,058,188...127,142,945
Ensembl chr10:127,058,358...127,138,704 		JBrowse link
G STK25 serine/threonine kinase 25 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:127,571,024...127,580,628
Ensembl chr10:127,571,665...127,580,071 		JBrowse link
G THAP4 THAP domain containing 4 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:127,643,567...127,689,582
Ensembl chr10:127,643,102...127,689,377 		JBrowse link
G TRAF3IP1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:124,348,763...124,428,522
Ensembl chr10:124,348,916...124,429,716 		JBrowse link
G TWIST2 twist family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:124,889,954...124,953,135
Ensembl chr10:124,890,134...124,890,613 		JBrowse link
G UBE2F ubiquitin conjugating enzyme E2 F (putative) ISO ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome ClinVar PMID:25741868 NCBI chr10:123,984,075...124,063,747 JBrowse link
Chromosome 3, Monosomy 3p25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAV3 caveolin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21082655 NCBI chr22:44,726,597...44,740,456
Ensembl chr22:44,727,624...44,740,459 		JBrowse link
G OXTR oxytocin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21082655 NCBI chr22:44,746,108...44,764,501
Ensembl chr22:44,742,419...44,763,243 		JBrowse link
G SRGAP3 SLIT-ROBO Rho GTPase activating protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21082655 NCBI chr22:44,979,675...45,355,753
Ensembl chr22:44,984,615...45,246,209 		JBrowse link
chromosome 3q29 microdeletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP19 centrosomal protein 19 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr15:90,514,147...90,519,580
Ensembl chr15:90,514,438...90,521,380 		JBrowse link
G DLG1 discs large MAGUK scaffold protein 1 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr15:89,937,900...90,214,976
Ensembl chr15:90,055,964...90,215,652 		JBrowse link
G DYNLT2B dynein light chain Tctex-type 2B ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr15:90,867,250...90,902,064
Ensembl chr15:90,867,322...90,902,667 		JBrowse link
G FBXO45 F-box protein 45 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr15:90,632,389...90,647,431
Ensembl chr15:90,629,330...90,647,191 		JBrowse link
G MELTF melanotransferrin ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr15:90,225,699...90,254,893
Ensembl chr15:90,225,780...90,255,263 		JBrowse link
G NCBP2 nuclear cap binding protein subunit 2 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr15:90,306,640...90,314,293
Ensembl chr15:90,306,640...90,313,019 		JBrowse link
G NCBP2AS2 NCBP2 antisense 2 (head to head) ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr15:90,305,682...90,306,599 JBrowse link
G NRROS negative regulator of reactive oxygen species ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr15:90,558,837...90,580,291
Ensembl chr15:90,558,770...90,579,175 		JBrowse link
G PAK2 p21 (RAC1) activated kinase 2 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr15:90,474,367...90,488,814
Ensembl chr15:90,398,660...90,449,346
Ensembl chr15:90,398,660...90,449,346 		JBrowse link
G PCYT1A phosphate cytidylyltransferase 1A, choline ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr15:90,905,691...90,944,485 JBrowse link
G PIGX phosphatidylinositol glycan anchor biosynthesis class X ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr15:90,495,273...90,514,543 JBrowse link
G PIGZ phosphatidylinositol glycan anchor biosynthesis class Z ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr15:90,284,834...90,303,871
Ensembl chr15:90,297,389...90,303,863 		JBrowse link
G RNF168 ring finger protein 168 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr15:90,702,740...90,735,279
Ensembl chr15:90,702,765...90,737,687 		JBrowse link
G SENP5 SUMO specific peptidase 5 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr15:90,317,214...90,382,007
Ensembl chr15:90,317,972...90,365,257 		JBrowse link
G SLC51A solute carrier family 51 member A ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr15:90,953,601...90,970,958
Ensembl chr15:90,949,639...90,970,240 		JBrowse link
G SMCO1 single-pass membrane protein with coiled-coil domains 1 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr15:90,691,449...90,698,287
Ensembl chr15:90,691,897...90,698,317 		JBrowse link
G TFRC transferrin receptor ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr15:91,102,153...91,134,994
Ensembl chr15:91,102,817...91,135,584 		JBrowse link
G TM4SF19 transmembrane 4 L six family member 19 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr15:90,858,641...90,878,981
Ensembl chr15:90,875,041...90,878,711 		JBrowse link
G TNK2 tyrosine kinase non receptor 2 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr15:91,187,702...91,232,391
Ensembl chr15:91,201,008...91,232,399 		JBrowse link
G UBXN7 UBX domain protein 7 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr15:90,770,294...90,844,744
Ensembl chr15:90,771,109...90,841,953 		JBrowse link
G WDR53 WD repeat domain 53 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr15:90,647,680...90,662,427
Ensembl chr15:90,647,718...90,662,641 		JBrowse link
G ZDHHC19 zDHHC palmitoyltransferase 19 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr15:90,974,291...90,989,857
Ensembl chr15:90,974,703...90,989,006 		JBrowse link
chromosome 4q21 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABRAXAS1 abraxas 1, BRCA1 A complex subunit ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr 7:31,852,411...31,875,968
Ensembl chr 7:31,853,490...31,875,189 		JBrowse link
G CDS1 CDP-diacylglycerol synthase 1 ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr 7:32,947,644...33,014,807
Ensembl chr 7:32,948,053...33,014,944 		JBrowse link
G COPS4 COP9 signalosome subunit 4 ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr 7:31,426,600...31,466,590
Ensembl chr 7:31,427,121...31,466,721 		JBrowse link
G COQ2 coenzyme Q2, polyprenyltransferase ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr 7:31,656,294...31,677,423
Ensembl chr 7:31,656,670...31,677,274 		JBrowse link
G ENOPH1 enolase-phosphatase 1 ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr 7:30,810,727...30,843,252
Ensembl chr 7:30,810,816...30,844,852 		JBrowse link
G GPAT3 glycerol-3-phosphate acyltransferase 3 ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr 7:31,897,507...31,990,028
Ensembl chr 7:31,964,903...31,990,541 		JBrowse link
G HELQ helicase, POLQ like ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr 7:31,799,072...31,846,942
Ensembl chr 7:31,797,747...31,846,760 		JBrowse link
G HNRNPD heterogeneous nuclear ribonucleoprotein D ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr 7:30,729,697...30,749,793
Ensembl chr 7:30,731,175...30,749,876 		JBrowse link
G HNRNPDL heterogeneous nuclear ribonucleoprotein D like ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr 7:30,804,807...30,810,539
Ensembl chr 7:30,805,749...30,810,720 		JBrowse link
G HPSE heparanase ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr 7:31,689,449...31,730,176
Ensembl chr 7:31,686,304...31,730,043 		JBrowse link
G LIN54 lin-54 DREAM MuvB core complex component ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr 7:31,323,792...31,406,194
Ensembl chr 7:31,326,174...31,404,045 		JBrowse link
G MRPS18C mitochondrial ribosomal protein S18C ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr 7:31,847,043...31,852,309 JBrowse link
G NKX6-1 NK6 homeobox 1 ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr 7:32,846,436...32,851,526
Ensembl chr 7:32,846,528...32,851,447 		JBrowse link
G PLAC8 placenta associated 8 ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr 7:31,471,166...31,496,053
Ensembl chr 7:31,470,774...31,489,432 		JBrowse link
G SCD5 stearoyl-CoA desaturase 5 ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr 7:31,021,144...31,186,564
Ensembl chr 7:31,019,361...31,186,584 		JBrowse link
G SEC31A SEC31 homolog A, COPII coat complex component ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr 7:31,207,349...31,288,484
Ensembl chr 7:31,207,089...31,288,574 		JBrowse link
G THAP9 THAP domain containing 9 ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr 7:31,298,005...31,318,168 JBrowse link
G TMEM150C transmembrane protein 150C ISO ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome ClinVar NCBI chr 7:30,867,177...30,951,903
Ensembl chr 7:30,865,915...30,887,665 		JBrowse link
Chromosome 5, Trisomy 5q term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDHR2 cadherin related family member 2 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr23:78,571,170...78,602,699
Ensembl chr23:78,571,792...78,602,552 		JBrowse link
G EIF4E1B eukaryotic translation initiation factor 4E family member 1B ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr23:78,650,378...78,653,912
Ensembl chr23:78,650,330...78,653,524 		JBrowse link
G FAF2 Fas associated factor family member 2 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr23:78,421,558...78,515,671
Ensembl chr23:78,456,545...78,516,245 		JBrowse link
G FGFR4 fibroblast growth factor receptor 4 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr23:79,095,031...79,106,018
Ensembl chr23:79,097,429...79,105,456 		JBrowse link
G GPRIN1 G protein regulated inducer of neurite outgrowth 1 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr23:78,602,680...78,617,580
Ensembl chr23:78,603,690...78,606,710 		JBrowse link
G HK3 hexokinase 3 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr23:78,888,087...78,908,608
Ensembl chr23:78,888,291...78,906,995 		JBrowse link
G LMAN2 lectin, mannose binding 2 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr23:79,337,076...79,358,653
Ensembl chr23:79,336,997...79,358,421 		JBrowse link
G MXD3 MAX dimerization protein 3 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr23:79,317,049...79,323,811
Ensembl chr23:79,317,436...79,322,431 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr23:79,140,148...79,309,579
Ensembl chr23:79,141,114...79,304,820 		JBrowse link
G PRELID1 PRELI domain containing 1 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr23:79,313,442...79,316,788 JBrowse link
G RAB24 RAB24, member RAS oncogene family ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr23:79,311,135...79,313,414
Ensembl chr23:79,310,704...79,312,994 		JBrowse link
G RGS14 regulator of G protein signaling 14 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr23:79,370,320...79,385,355
Ensembl chr23:79,370,087...79,387,192 		JBrowse link
G RNF44 ring finger protein 44 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr23:78,533,012...78,544,252
Ensembl chr23:78,531,305...78,538,504 		JBrowse link
G SNCB synuclein beta ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr23:78,626,876...78,637,337
Ensembl chr23:78,627,479...78,636,287 		JBrowse link
G TSPAN17 tetraspanin 17 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr23:78,654,954...78,667,299
Ensembl chr23:78,655,055...78,667,462 		JBrowse link
G UIMC1 ubiquitin interaction motif containing 1 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr23:78,912,434...79,010,695
Ensembl chr23:78,911,234...79,010,264 		JBrowse link
G UNC5A unc-5 netrin receptor A ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr23:78,819,521...78,888,116
Ensembl chr23:78,871,865...78,890,665 		JBrowse link
G ZNF346 zinc finger protein 346 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr23:79,010,203...79,072,063
Ensembl chr23:79,027,548...79,070,705 		JBrowse link
chromosome 5q deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EEF1D eukaryotic translation elongation factor 1 delta ISO ClinVar Annotator: match by term: Chromosome 5q deletion syndrome ClinVar PMID:25741868 NCBI chr 8:137,800,115...137,818,264
Ensembl chr 8:137,799,428...137,813,120 		JBrowse link
G KLF1 KLF transcription factor 1 ISO mRNA:decreased expression:bone marrow, blood RGD PMID:22965552 RGD:10769343 NCBI chr 6:11,563,773...11,566,615
Ensembl chr 6:11,564,235...11,566,495 		JBrowse link
G RPS14 ribosomal protein S14 ISO OMIM NCBI chr23:53,046,670...53,052,082
Ensembl chr23:53,044,994...53,050,194 		JBrowse link
chromosome 6q24-q25 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKAP12 A-kinase anchoring protein 12 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr13:78,691,588...78,812,333
Ensembl chr13:78,691,816...78,812,834 		JBrowse link
G ARID1B AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr13:84,351,298...84,799,691 JBrowse link
G ARMT1 acidic residue methyltransferase 1 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr13:78,912,208...78,929,746
Ensembl chr13:78,911,651...78,929,897 		JBrowse link
G CCDC170 coiled-coil domain containing 170 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr13:78,954,615...79,085,616
Ensembl chr13:78,954,547...79,087,864 		JBrowse link
G CLDN20 claudin 20 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr13:82,840,409...82,841,307
Ensembl chr13:82,840,480...82,841,139 		JBrowse link
G CNKSR3 CNKSR family member 3 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr13:81,945,080...82,050,304
Ensembl chr13:81,943,423...82,050,175 		JBrowse link
G DYNLT1 dynein light chain Tctex-type 1 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr13:86,210,462...86,218,002
Ensembl chr13:86,210,465...86,217,956 		JBrowse link
G ESR1 estrogen receptor 1 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr13:79,153,418...79,554,552
Ensembl chr13:79,270,265...79,554,549 		JBrowse link
G EZR ezrin ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr13:86,342,954...86,399,827
Ensembl chr13:86,344,051...86,370,622 		JBrowse link
G FBXO5 F-box protein 5 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr13:80,453,345...80,467,590
Ensembl chr13:80,453,355...80,466,778 		JBrowse link
G FNDC1 fibronectin type III domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr13:86,720,558...86,868,978
Ensembl chr13:86,792,712...86,868,321 		JBrowse link
G GTF2H5 general transcription factor IIH subunit 5 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 Ensembl chr13:85,771,630...85,782,646 JBrowse link
G IPCEF1 interaction protein for cytohesin exchange factors 1 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr13:81,686,467...81,891,325
Ensembl chr13:81,691,775...81,882,740 		JBrowse link
G IYD iodotyrosine deiodinase ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr13:77,794,539...77,828,841
Ensembl chr13:77,795,079...77,822,379 		JBrowse link
G MTHFD1L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr13:78,306,770...78,539,884
Ensembl chr13:78,306,821...78,477,200 		JBrowse link
G MTRF1L mitochondrial translation release factor 1 like ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr13:80,471,605...80,487,887
Ensembl chr13:80,472,958...80,487,797 		JBrowse link
G MYCT1 MYC target 1 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr13:80,167,974...80,192,976
Ensembl chr13:80,168,447...80,193,110 		JBrowse link
G NOX3 NADPH oxidase 3 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr13:82,972,005...83,033,457
Ensembl chr13:82,970,184...83,032,974 		JBrowse link
G OPRM1 opioid receptor mu 1 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr13:81,568,295...81,650,005
Ensembl chr13:81,568,732...81,625,088 		JBrowse link
G PLEKHG1 pleckstrin homology and RhoGEF domain containing G1 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr13:78,034,968...78,285,288
Ensembl chr13:78,154,150...78,287,996 		JBrowse link
G RGS17 regulator of G protein signaling 17 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr13:80,493,900...80,620,714 JBrowse link
G RMND1 required for meiotic nuclear division 1 homolog ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr13:78,865,327...78,912,235
Ensembl chr13:78,865,765...78,912,601 		JBrowse link
G RSPH3 radial spoke head 3 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr13:86,562,453...86,582,483 JBrowse link
G SCAF8 SR-related CTD associated factor 8 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr13:82,270,422...82,448,887
Ensembl chr13:82,271,029...82,370,850 		JBrowse link
G SERAC1 serine active site containing 1 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr13:85,711,101...85,770,010
Ensembl chr13:85,710,061...85,769,961 		JBrowse link
G SNX9 sorting nexin 9 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr13:85,468,837...85,549,351
Ensembl chr13:85,468,479...85,549,988 		JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr13:79,572,233...80,104,951
Ensembl chr13:79,572,936...79,988,893 		JBrowse link
G SYNJ2 synaptojanin 2 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr13:85,579,457...85,695,694
Ensembl chr13:85,580,392...85,692,908 		JBrowse link
G SYTL3 synaptotagmin like 3 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr13:86,242,087...86,342,084
Ensembl chr13:86,242,109...86,341,818 		JBrowse link
G TAGAP T cell activation RhoGTPase activating protein ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr13:86,620,021...86,630,814
Ensembl chr13:86,620,046...86,630,956 		JBrowse link
G TFB1M transcription factor B1, mitochondrial ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr13:82,823,528...82,877,958
Ensembl chr13:82,823,640...82,877,923 		JBrowse link
G TIAM2 TIAM Rac1 associated GEF 2 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr13:82,537,021...82,823,525
Ensembl chr13:82,688,773...82,822,949 		JBrowse link
G TMEM181 transmembrane protein 181 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr13:86,102,912...86,206,815 JBrowse link
G TMEM242 transmembrane protein 242 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr13:84,894,462...84,920,439
Ensembl chr13:84,894,882...84,920,806 		JBrowse link
G TULP4 TUB like protein 4 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr13:85,881,735...86,088,074
Ensembl chr13:85,883,698...86,085,894 		JBrowse link
G VIP vasoactive intestinal peptide ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr13:80,217,602...80,228,320
Ensembl chr13:80,218,572...80,228,278 		JBrowse link
G ZBTB2 zinc finger and BTB domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr13:78,822,647...78,852,343
Ensembl chr13:78,822,619...78,851,708 		JBrowse link
G ZDHHC14 zDHHC palmitoyltransferase 14 ISO ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome ClinVar PMID:25741868 PMID:38177409 NCBI chr13:84,975,470...85,281,991
Ensembl chr13:85,197,083...85,277,851 		JBrowse link
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC146 coiled-coil domain containing 146 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr21:71,634,139...71,807,739
Ensembl chr21:71,634,069...71,807,442 		JBrowse link
G CCL24 C-C motif chemokine ligand 24 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr28:10,067,482...10,069,992
Ensembl chr28:10,066,664...10,069,695 		JBrowse link
G CCL26 C-C motif chemokine ligand 26 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr28:10,036,177...10,038,962
Ensembl chr28:10,036,337...10,038,875 		JBrowse link
G DTX2 deltex E3 ubiquitin ligase 2 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr28:10,596,698...10,641,118
Ensembl chr28:10,596,740...10,641,226 		JBrowse link
G FGL2 fibrinogen like 2 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr21:71,735,486...71,741,951
Ensembl chr21:71,735,253...71,742,954 		JBrowse link
G GSAP gamma-secretase activating protein ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr21:71,513,271...71,735,228 JBrowse link
G GTF2IRD2B GTF2I repeat domain containing 2B ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr28:8,281,979...8,326,957 JBrowse link
G HIP1 huntingtin interacting protein 1 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr28:9,805,985...10,007,931
Ensembl chr28:9,807,672...9,914,047 		JBrowse link
G HSPB1 heat shock protein family B (small) member 1 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr28:10,442,530...10,443,804
Ensembl chr28:10,442,398...10,443,855 		JBrowse link
G LOC103246654 NADPH--cytochrome P450 reductase ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr28:10,145,070...10,230,836
Ensembl chr28:10,197,503...10,230,468 		JBrowse link
G MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr21:69,460,345...70,916,684 JBrowse link
G MDH2 malate dehydrogenase 2 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr28:10,294,021...10,313,079
Ensembl chr28:10,294,021...10,313,970 		JBrowse link
G PHTF2 putative homeodomain transcription factor 2 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr21:70,974,679...71,134,791
Ensembl chr21:70,974,474...71,134,673 		JBrowse link
G POM121C POM121 transmembrane nucleoporin C ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr28:9,743,371...9,796,532 JBrowse link
G PTPN12 protein tyrosine phosphatase non-receptor type 12 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr21:71,285,917...71,389,645
Ensembl chr21:71,285,736...71,389,926 		JBrowse link
G RCC1L RCC1 like ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr28:8,215,324...8,250,560
Ensembl chr28:8,215,318...8,250,523 		JBrowse link
G RHBDD2 rhomboid domain containing 2 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr28:10,126,934...10,134,740
Ensembl chr28:10,126,901...10,135,061 		JBrowse link
G RSBN1L round spermatid basic protein 1 like ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr21:71,154,647...71,232,304
Ensembl chr21:71,151,157...71,231,601 		JBrowse link
G SRRM3 serine/arginine repetitive matrix 3 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr28:10,336,615...10,424,545
Ensembl chr28:10,364,092...10,422,922 		JBrowse link
G SSC4D scavenger receptor cysteine rich family member with 4 domains ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr28:10,536,051...10,588,885 JBrowse link
G STYXL1 serine/threonine/tyrosine interacting like 1 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr28:10,239,381...10,294,741
Ensembl chr28:10,240,091...10,277,112 		JBrowse link
G TMEM120A transmembrane protein 120A ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr28:10,230,961...10,238,325
Ensembl chr28:10,231,152...10,238,226 		JBrowse link
G TMEM60 transmembrane protein 60 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr21:71,135,158...71,139,802
Ensembl chr21:71,139,157...71,139,555 		JBrowse link
G UPK3B uroplakin 3B ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr28:10,645,511...10,652,171
Ensembl chr28:10,646,228...10,652,438 		JBrowse link
G YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr28:10,462,984...10,494,500
Ensembl chr28:10,462,859...10,494,457 		JBrowse link
G ZP3 zona pellucida glycoprotein 3 ISO ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME ClinVar NCBI chr28:10,534,383...10,579,828
Ensembl chr28:10,562,455...10,579,825 		JBrowse link
chromosome 9p deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AK3 adenylate kinase 3 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr12:74,801,673...74,832,838
Ensembl chr12:74,801,671...74,835,475 		JBrowse link
G BRD10 bromodomain containing 10 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr12:73,496,054...73,588,143
Ensembl chr12:73,495,604...73,587,220 		JBrowse link
G CD274 CD274 molecule ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr12:74,038,844...74,060,662
Ensembl chr12:74,041,767...74,056,806 		JBrowse link
G CDC37L1 cell division cycle 37 like 1, HSP90 cochaperone ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr12:74,837,411...74,864,343
Ensembl chr12:74,835,554...74,864,381 		JBrowse link
G DMAC1 distal membrane arm assembly component 1 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr12:71,753,498...71,755,037
Ensembl chr12:71,753,572...71,756,955 		JBrowse link
G DMRT1 doublesex and mab-3 related transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr12:78,551,312...78,679,517 JBrowse link
G DMRT3 doublesex and mab-3 related transcription factor 3 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr12:78,528,709...78,543,509
Ensembl chr12:78,529,443...78,543,419 		JBrowse link
G DOCK8 dedicator of cytokinesis 8 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr12:79,060,579...79,298,145
Ensembl chr12:79,060,425...79,298,164 		JBrowse link
G ERMP1 endoplasmic reticulum metallopeptidase 1 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr12:73,639,125...73,725,090 JBrowse link
G FREM1 FRAS1 related extracellular matrix 1 ISO OMIM:158170 MouseDO NCBI chr12:64,681,181...64,849,266 JBrowse link
G GLDC glycine decarboxylase ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr12:72,876,992...72,990,671
Ensembl chr12:72,877,017...72,990,668 		JBrowse link
G GLIS3 GLIS family zinc finger 3 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr12:75,244,685...75,726,554 JBrowse link
G IL33 interleukin 33 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr12:73,235,585...73,283,665
Ensembl chr12:73,237,406...73,252,436 		JBrowse link
G INSL4 insulin like 4 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr12:74,265,171...74,268,298
Ensembl chr12:74,265,272...74,267,762 		JBrowse link
G INSL6 insulin like 6 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr12:74,345,243...74,372,778
Ensembl chr12:74,346,706...74,372,729 		JBrowse link
G JAK2 Janus kinase 2 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr12:74,421,243...74,566,766
Ensembl chr12:74,421,016...74,566,710 		JBrowse link
G KANK1 KN motif and ankyrin repeat domains 1 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr12:78,775,214...79,015,538
Ensembl chr12:78,774,788...78,973,851 		JBrowse link
G KCNV2 potassium voltage-gated channel modifier subfamily V member 2 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr12:76,825,875...76,838,967
Ensembl chr12:76,826,283...76,837,774 		JBrowse link
G KDM4C lysine demethylase 4C ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr12:72,346,194...72,763,040
Ensembl chr12:72,347,071...72,761,666 		JBrowse link
G LOC103219498 RNA 3'-terminal phosphate cyclase-like protein ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr12:74,688,284...74,754,184
Ensembl chr12:74,687,071...74,754,045 		JBrowse link
G LOC103219528 doublesex- and mab-3-related transcription factor 2 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr12:78,461,974...78,472,868
Ensembl chr12:78,461,987...78,468,684 		JBrowse link
G MLANA melan-A ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr12:73,595,693...73,613,403
Ensembl chr12:73,595,168...73,613,193 		JBrowse link
G PDCD1LG2 programmed cell death 1 ligand 2 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr12:73,938,194...73,998,028
Ensembl chr12:73,938,042...73,997,770 		JBrowse link
G PLGRKT plasminogen receptor with a C-terminal lysine ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr12:74,069,239...74,144,882
Ensembl chr12:74,069,306...74,144,454 		JBrowse link
G PLPP6 phospholipid phosphatase 6 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr12:74,878,131...74,881,106
Ensembl chr12:74,880,128...74,881,015 		JBrowse link
G PTPRD protein tyrosine phosphatase receptor type D ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr12:70,160,253...71,237,292
Ensembl chr12:70,693,214...71,239,437 		JBrowse link
G PUM3 pumilio RNA binding family member 3 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr12:76,708,246...76,749,520
Ensembl chr12:76,714,791...76,750,847 		JBrowse link
G RANBP6 RAN binding protein 6 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr12:73,488,265...73,493,101
Ensembl chr12:73,488,520...73,491,837 		JBrowse link
G RFX3 regulatory factor X3 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr12:76,039,729...76,344,936
Ensembl chr12:76,096,465...76,338,204 		JBrowse link
G RIC1 RIC1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr12:73,738,646...73,887,518
Ensembl chr12:73,740,954...73,886,295 		JBrowse link
G RLN2 relaxin 2 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr12:74,184,516...74,191,364
Ensembl chr12:74,186,116...74,190,540 		JBrowse link
G SLC1A1 solute carrier family 1 member 1 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr12:74,949,560...75,041,455
Ensembl chr12:74,949,028...75,041,369 		JBrowse link
G SMARCA2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr12:77,364,468...77,546,356
Ensembl chr12:77,375,500...77,546,314 		JBrowse link
G SPATA6L spermatogenesis associated 6 like ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr12:74,874,307...74,936,574
Ensembl chr12:74,877,129...74,932,890 		JBrowse link
G TPD52L3 TPD52 like 3 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr12:73,170,637...73,174,919 JBrowse link
G UHRF2 ubiquitin like with PHD and ring finger domains 2 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr12:73,010,697...73,106,163
Ensembl chr12:73,007,830...73,106,120 		JBrowse link
G VLDLR very low density lipoprotein receptor ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr12:76,900,551...76,933,601
Ensembl chr12:76,899,189...76,933,584 		JBrowse link
G WASHC1 WASH complex subunit 1 ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr11:10,075...27,633
Ensembl chr11:8,116...22,842 		JBrowse link
G ZNG1A Zn regulated GTPase metalloprotein activator 1A ISO ClinVar Annotator: match by term: Chromosome 9p deletion syndrome ClinVar PMID:25741868 NCBI chr12:79,335,976...79,387,793 JBrowse link
Chromosome Deletion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAD51D RAD51 paralog D ISO CTD Direct Evidence: marker/mechanism CTD PMID:27924006 NCBI chr16:28,603,326...28,623,120
Ensembl chr16:28,604,500...28,622,845 		JBrowse link
G SHANK3 SH3 and multiple ankyrin repeat domains 3 ISO RGD PMID:12920066 RGD:1599213 NCBI chr19:33,155,695...33,209,679
Ensembl chr19:33,155,770...33,208,224 		JBrowse link
Cri-du-Chat syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TERT telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12629597 NCBI chr 4:1,082,894...1,119,373
Ensembl chr 4:1,083,384...1,117,468 		JBrowse link
Deafness, with Smith-Magenis Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO15A myosin XVA ISO ClinVar Annotator: match by term: Deafness, with smith-magenis syndrome ClinVar PMID:11735029 PMID:17546645 PMID:19274735 PMID:24033266 PMID:25741868 More... NCBI chr16:17,157,275...17,217,609
Ensembl chr16:17,157,490...17,218,009 		JBrowse link
Deafness-Infertility Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CATSPER2 cation channel sperm associated 2 ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:19344877 PMID:24033266 PMID:25741868 NCBI chr26:39,300,273...39,325,846 JBrowse link
G LOC103245735 stereocilin ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:18414213 PMID:21078986 PMID:22147502 PMID:24033266 PMID:25157971 More... NCBI chr26:39,376,441...39,397,613
Ensembl chr26:39,378,318...39,401,072 		JBrowse link
G LOC103246095 creatine kinase U-type, mitochondrial ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:25741868 NCBI chr26:39,397,797...39,401,046 JBrowse link
G PDIA3 protein disulfide isomerase family A member 3 ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:25741868 NCBI chr26:39,273,982...39,300,170
Ensembl chr26:39,272,997...39,349,966 		JBrowse link
G PPIP5K1 diphosphoinositol pentakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:25741868
DiGeorge syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIFM3 AIF family member 3 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr19:4,901,118...4,917,290
Ensembl chr19:4,904,050...4,918,224 		JBrowse link
G ALDH1A2 aldehyde dehydrogenase 1 family member A2 ISO OMIM:188400 RGD
MouseDO		 PMID:12563036 RGD:734550 NCBI chr26:25,439,159...25,557,199
Ensembl chr26:25,439,360...25,557,202 		JBrowse link
G ARVCF ARVCF delta catenin family member ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr19:5,721,887...5,775,910
Ensembl chr19:5,755,146...5,775,109 		JBrowse link
G BCR BCR activator of RhoGEF and GTPase ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr19:2,569,841...2,703,703
Ensembl chr19:2,566,190...2,702,920 		JBrowse link
G CCDC116 coiled-coil domain containing 116 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr19:4,472,976...4,478,265
Ensembl chr19:4,473,531...4,477,137 		JBrowse link
G CCDC188 coiled-coil domain containing 188 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome ClinVar NCBI chr19:5,589,399...5,592,135 JBrowse link
G CDC45 cell division cycle 45 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr19:6,232,610...6,275,743
Ensembl chr19:6,231,591...6,275,294 		JBrowse link
G CHRD chordin ISO OMIM:188400 MouseDO NCBI chr15:5,030,618...5,040,399
Ensembl chr15:5,030,457...5,039,991 		JBrowse link
G CLDN5 claudin 5 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr19:6,227,881...6,230,199
Ensembl chr19:6,228,965...6,229,621 		JBrowse link
G CLTCL1 clathrin heavy chain like 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr19:6,455,178...6,568,930
Ensembl chr19:6,455,248...6,573,058 		JBrowse link
G COMT catechol-O-methyltransferase ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr19:5,775,829...5,803,260
Ensembl chr19:5,773,225...5,785,422 		JBrowse link
G CRKL CRK like proto-oncogene, adaptor protein ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More...
G CUNH22orf39 chromosome unknown C22orf39 homolog ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr19:6,307,277...6,312,609
Ensembl chr19:6,307,916...6,311,459 		JBrowse link
G DGCR2 DiGeorge syndrome critical region gene 2 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr19:6,628,092...6,710,070
Ensembl chr19:6,628,096...6,707,507 		JBrowse link
G DGCR6L DiGeorge syndrome critical region gene 6 like ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr19:2,436,534...2,441,930 JBrowse link
G DGCR8 DGCR8 microprocessor complex subunit ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr19:5,627,924...5,657,773
Ensembl chr19:5,629,684...5,652,191 		JBrowse link
G DICER1 dicer 1, ribonuclease III ISO OMIM:188400 MouseDO NCBI chr24:72,915,550...72,986,658
Ensembl chr24:72,915,499...72,963,006 		JBrowse link
G DOCK1 dedicator of cytokinesis 1 ISO OMIM:188400 MouseDO NCBI chr 9:119,519,230...120,064,767 JBrowse link
G DVL1 dishevelled segment polarity protein 1 ISO RGD PMID:8644734 RGD:1580898 NCBI chr20:130,105,032...130,118,978
Ensembl chr20:130,104,639...130,117,139 		JBrowse link
G ESS2 ess-2 splicing factor homolog ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr19:6,604,275...6,615,316
Ensembl chr19:6,604,345...6,615,055 		JBrowse link
G FGF8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism
OMIM:188400		 CTD
MouseDO		 PMID:16399080 NCBI chr 9:94,797,157...94,803,725
Ensembl chr 9:94,798,088...94,803,629 		JBrowse link
G FOXN1 forkhead box N1 ISO OMIM:188400 MouseDO NCBI chr16:22,291,597...22,306,977
Ensembl chr16:22,292,330...22,305,968 		JBrowse link
G GNAZ G protein subunit alpha z ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr19:2,758,097...2,812,306
Ensembl chr19:2,757,819...2,788,076 		JBrowse link
G GNB1L G protein subunit beta 1 like ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr19:5,889,395...5,959,515
Ensembl chr19:5,890,567...5,959,510 		JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr19:6,020,618...6,021,646 JBrowse link
G GSC2 goosecoid homeobox 2 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr19:6,598,246...6,601,230
Ensembl chr19:6,598,259...6,599,532 		JBrowse link
G HIC2 HIC ZBTB transcriptional repressor 2 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr19:4,584,633...4,622,519
Ensembl chr19:4,613,833...4,617,835 		JBrowse link
G HIRA histone cell cycle regulator ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr19:6,324,050...6,424,999
Ensembl chr19:6,324,253...6,425,641 		JBrowse link
G HNF1A HNF1 homeobox A ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 More... NCBI chr11:116,334,935...116,358,582
Ensembl chr11:116,335,675...116,357,751 		JBrowse link
G HOXA3 homeobox A3 ISO OMIM:188400 MouseDO NCBI chr21:31,241,900...31,261,900
Ensembl chr21:31,258,142...31,261,952 		JBrowse link
G KAT6A lysine acetyltransferase 6A ISO OMIM:188400 RGD
MouseDO		 PMID:22921202 RGD:9590333 NCBI chr 8:39,912,120...40,035,776
Ensembl chr 8:39,911,776...39,962,735 		JBrowse link
G KLHL22 kelch like family member 22 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr19:5,211,732...5,264,953
Ensembl chr19:5,218,653...5,265,063 		JBrowse link
G LOC103222901 radial spoke head 14 homolog ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr19:2,740,897...2,824,054
Ensembl chr19:2,741,212...2,824,031 		JBrowse link
G LOC103222955 uncharacterized LOC103222955 ISO OMIM:188400 MouseDO NCBI chr19:4,855,633...4,889,674
Ensembl chr19:4,855,611...4,890,302 		JBrowse link
G LRRC74B leucine rich repeat containing 74B ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome ClinVar NCBI chr19:4,988,262...5,005,253
Ensembl chr19:4,988,805...5,004,819 		JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr19:4,917,381...4,935,174
Ensembl chr19:4,918,360...4,933,439 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr19:4,246,144...4,352,648
Ensembl chr19:4,246,122...4,353,325 		JBrowse link
G MED15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr19:5,111,512...5,195,677
Ensembl chr19:5,112,435...5,167,139 		JBrowse link
G MRPL40 mitochondrial ribosomal protein L40 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Catch22 | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr19:6,319,745...6,323,955
Ensembl chr19:6,319,263...6,323,799 		JBrowse link
G NDST1 N-deacetylase and N-sulfotransferase 1 ISO OMIM:188400 MouseDO NCBI chr23:53,109,806...53,159,880
Ensembl chr23:53,123,222...53,155,016 		JBrowse link
G P2RX6 purinergic receptor P2X 6 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:31690835 PMID:32581362 NCBI chr19:4,958,713...4,969,443
Ensembl chr19:4,958,671...4,969,724 		JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr19:4,648,184...4,797,573
Ensembl chr19:4,648,183...4,797,396 		JBrowse link
G PLXND1 plexin D1 ISO OMIM:188400 MouseDO NCBI chr22:51,440,797...51,493,370
Ensembl chr22:51,441,127...51,495,118 		JBrowse link
G PPIL2 peptidylprolyl isomerase like 2 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr19:4,412,575...4,448,759
Ensembl chr19:4,414,953...4,445,891 		JBrowse link
G PPM1F protein phosphatase, Mg2+/Mn2+ dependent 1F ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr19:4,167,925...4,200,550
Ensembl chr19:4,167,908...4,200,953 		JBrowse link
G RAB36 RAB36, member RAS oncogene family ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr19:2,720,771...2,737,989
Ensembl chr19:2,718,883...2,737,602 		JBrowse link
G RANBP1 RAN binding protein 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr19:5,611,968...5,622,414
Ensembl chr19:5,612,268...5,622,191 		JBrowse link
G RTL10 retrotransposon Gag like 10 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr19:5,890,989...5,895,243 JBrowse link
G RTN4R reticulon 4 receptor ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr19:5,469,854...5,497,858 JBrowse link
G SCARF2 scavenger receptor class F member 2 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr19:5,265,730...5,282,092
Ensembl chr19:5,268,630...5,282,092 		JBrowse link
G SDF2L1 stromal cell derived factor 2 like 1 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr19:4,465,795...4,467,882
Ensembl chr19:4,465,797...4,467,761 		JBrowse link
G SEPTIN5 septin 5 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:25516202 PMID:28492532 NCBI chr19:6,022,074...6,030,880
Ensembl chr19:6,020,917...6,030,821 		JBrowse link
G SERPIND1 serpin family D member 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr19:4,709,896...4,724,620
Ensembl chr19:4,715,806...4,726,111 		JBrowse link
G SLC25A1 solute carrier family 25 member 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr19:6,569,627...6,572,872 JBrowse link
G SLC7A4 solute carrier family 7 member 4 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:31690835 PMID:32581362 NCBI chr19:4,970,147...4,973,603
Ensembl chr19:4,970,483...4,973,230 		JBrowse link
G SNAP29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr19:4,797,690...4,827,573
Ensembl chr19:4,797,725...4,830,251 		JBrowse link
G SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like ISO ClinVar Annotator: match by term: Autosomal dominant Opitz G/BBB syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr19:7,488,821...7,539,961
Ensembl chr19:7,488,832...7,539,952 		JBrowse link
G TANGO2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr19:5,672,758...5,717,574
Ensembl chr19:5,672,180...5,701,361 		JBrowse link
G TBX1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Catch22 | ClinVar Annotator: match by term: DiGeorge Syndrome | ClinVar Annotator: match by term: DiGeorge sequence | ClinVar Annotator: match by term: DiGeorge syndrome | ClinVar Annotator: match by term: Familial third and fourth pharyngeal pouch syndrome | ClinVar Annotator: match by term: Thymic aplasia syndrome
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Autosomal dominant Opitz G/BBB syndrome | ClinVar Annotator: match by term: Catch22 | ClinVar Annotator: match by term: DiGeorge Syndrome | ClinVar Annotator: match by term: DiGeorge sequence | ClinVar Annotator: match by term: DiGeorge syndrome | ClinVar Annotator: match by term: Familial third and fourth pharyngeal pouch syndrome | ClinVar Annotator: match by term: Thymic aplasia syndrome
ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Catch22 | ClinVar Annotator: match by term: DiGeorge sequence | ClinVar Annotator: match by term: DiGeorge syndrome | ClinVar Annotator: match by term: Familial third and fourth pharyngeal pouch syndrome | ClinVar Annotator: match by term: Thymic aplasia syndrome		 OMIM
ClinVar		 PMID:9536098 PMID:11239417 PMID:11242049 PMID:11748311 PMID:14585638 More... NCBI chr19:5,980,114...5,986,313
Ensembl chr19:5,980,587...5,987,244 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO OMIM:188400 MouseDO NCBI chr15:75,112,903...75,200,263
Ensembl chr15:75,112,561...75,197,711 		JBrowse link
G THAP7 THAP domain containing 7 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:31690835 PMID:32581362 NCBI chr19:4,935,872...4,938,181
Ensembl chr19:4,935,976...4,938,152 		JBrowse link
G TMEM191C transmembrane protein 191C ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr19:4,642,322...4,645,078 JBrowse link
G TOP3B DNA topoisomerase III beta ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr19:4,137,823...4,163,860
Ensembl chr19:4,137,862...4,166,436 		JBrowse link
G TP53 tumor protein p53 ISO RGD PMID:25197075 RGD:155641238 NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223 		JBrowse link
G TRMT2A tRNA methyltransferase 2 homolog A ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr19:5,622,542...5,627,923
Ensembl chr19:5,622,630...5,627,257 		JBrowse link
G TSSK2 testis specific serine kinase 2 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr19:6,617,030...6,618,932
Ensembl chr19:6,617,256...6,618,344 		JBrowse link
G TXNRD2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr19:5,803,178...5,868,224
Ensembl chr19:5,813,099...5,866,674 		JBrowse link
G UBE2L3 ubiquitin conjugating enzyme E2 L3 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr19:4,485,960...4,538,838 JBrowse link
G UFD1 ubiquitin recognition factor in ER associated degradation 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr19:6,275,834...6,305,940
Ensembl chr19:6,275,844...6,308,035 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO OMIM:188400 MouseDO NCBI chr17:28,377,959...28,394,508 JBrowse link
G YDJC YdjC chitooligosaccharide deacetylase homolog ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr19:4,479,690...4,481,915
Ensembl chr19:4,479,985...4,481,586 		JBrowse link
G YPEL1 yippee like 1 ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr19:4,378,483...4,409,498
Ensembl chr19:4,400,451...4,409,228 		JBrowse link
G ZDHHC8 zDHHC palmitoyltransferase 8 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr19:5,591,311...5,607,448
Ensembl chr19:5,589,090...5,607,387 		JBrowse link
G ZNF280A zinc finger protein 280A ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr19:3,457,060...3,463,629
Ensembl chr19:3,461,735...3,463,363 		JBrowse link
G ZNF280B zinc finger protein 280B ISO ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:32581362 NCBI chr19:3,468,032...3,491,475
Ensembl chr19:3,484,232...3,485,863 		JBrowse link
G ZNF366 zinc finger protein 366 ISO OMIM:188400 MouseDO NCBI chr 4:66,779,113...66,844,839
Ensembl chr 4:66,776,547...66,843,905 		JBrowse link
G ZNF74 zinc finger protein 74 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome ClinVar PMID:21921585 PMID:24826987 PMID:25205790 PMID:25516202 PMID:25860641 More... NCBI chr19:5,302,966...5,318,084 JBrowse link
Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NEBL nebulette ISO ClinVar Annotator: match by term: DiGeorge syndrome/velocardiofacial syndrome complex 2 ClinVar PMID:24033266 PMID:25741868 PMID:25987543 PMID:27186169 PMID:27662471 More... NCBI chr 9:20,620,745...20,999,148 JBrowse link
distal 10q deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAM12 ADAM metallopeptidase domain 12 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 9:118,641,551...119,014,280
Ensembl chr 9:118,646,539...118,749,351 		JBrowse link
G ADAM8 ADAM metallopeptidase domain 8 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr26:53,114,184...53,129,650
Ensembl chr26:53,114,924...53,126,900 		JBrowse link
G ADGRA1 adhesion G protein-coupled receptor A1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 9:125,667,089...125,675,357 JBrowse link
G BNIP3 BCL2 interacting protein 3 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 9:124,570,958...124,586,002
Ensembl chr 9:124,568,695...124,585,980 		JBrowse link
G CALY calcyon neuron specific vesicular protein ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr26:53,170,933...53,182,147
Ensembl chr26:53,170,193...53,182,136 		JBrowse link
G CLRN3 clarin 3 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 9:120,484,216...120,499,937
Ensembl chr 9:120,481,843...120,499,525 		JBrowse link
G CUNH10orf90 chromosome unknown C10orf90 homolog ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 9:119,049,797...119,290,121
Ensembl chr 9:119,050,676...119,136,762 		JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr26:53,390,054...53,403,309
Ensembl chr26:53,390,089...53,404,211 		JBrowse link
G DHX32 DEAH-box helicase 32 (putative) ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 9:118,463,458...118,519,482
Ensembl chr 9:118,458,769...118,504,541 		JBrowse link
G DOCK1 dedicator of cytokinesis 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 9:119,519,230...120,064,767 JBrowse link
G DPYSL4 dihydropyrimidinase like 4 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 9:124,778,082...124,795,738
Ensembl chr 9:124,778,156...124,795,806 		JBrowse link
G EBF3 EBF transcription factor 3 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 9:122,443,492...122,572,089 JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr26:53,212,299...53,222,805 JBrowse link
G FANK1 fibronectin type III and ankyrin repeat domains 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 9:118,519,571...118,638,408
Ensembl chr 9:118,519,628...118,639,245 		JBrowse link
G FOXI2 forkhead box I2 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 9:120,355,102...120,359,663
Ensembl chr 9:120,355,174...120,356,864 		JBrowse link
G FUOM fucose mutarotase ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr26:53,204,739...53,209,037 JBrowse link
G GLRX3 glutaredoxin 3 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 9:122,737,101...122,780,001
Ensembl chr 9:122,737,379...122,781,391 		JBrowse link
G INPP5A inositol polyphosphate-5-phosphatase A ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 9:125,137,901...125,374,995
Ensembl chr 9:125,204,017...125,375,565 		JBrowse link
G INSYN2A inhibitory synaptic factor 2A ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 9:119,748,966...119,810,394
Ensembl chr 9:119,748,993...119,810,042 		JBrowse link
G JAKMIP3 Janus kinase and microtubule interacting protein 3 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 9:124,630,893...124,775,995
Ensembl chr 9:124,657,592...124,754,528 		JBrowse link
G KNDC1 kinase non-catalytic C-lobe domain containing 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835
G LOC103216748 cilia- and flagella-associated protein 46 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 9:125,395,431...125,530,296
Ensembl chr 9:125,396,428...125,530,178 		JBrowse link
G LRRC27 leucine rich repeat containing 27 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 9:124,920,326...124,969,001
Ensembl chr 9:124,920,227...124,968,781 		JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 9:122,089,768...122,376,320 JBrowse link
G MKI67 marker of proliferation Ki-67 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 9:120,697,183...120,727,039
Ensembl chr 9:120,698,834...120,726,866 		JBrowse link
G MTG1 mitochondrial ribosome associated GTPase 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr26:53,240,858...53,255,989
Ensembl chr26:53,240,644...53,256,062 		JBrowse link
G NKX6-2 NK6 homeobox 2 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 9:125,374,441...125,377,565
Ensembl chr 9:125,376,268...125,377,482 		JBrowse link
G NPS neuropeptide S ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 9:120,168,749...120,176,288 JBrowse link
G PAOX polyamine oxidase ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr26:53,228,320...53,238,362
Ensembl chr26:53,228,396...53,240,508 		JBrowse link
G PPP2R2D protein phosphatase 2 regulatory subunit Bdelta ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 9:124,510,800...124,560,872 JBrowse link
G PRAP1 proline rich acidic protein 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr26:53,195,600...53,201,846 JBrowse link
G PTPRE protein tyrosine phosphatase receptor type E ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 9:120,511,812...120,691,820
Ensembl chr 9:120,646,898...120,690,230 		JBrowse link
G PWWP2B PWWP domain containing 2B ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 9:124,984,851...125,012,202
Ensembl chr 9:124,988,407...124,997,532 		JBrowse link
G SPRN shadow of prion protein ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr26:53,256,120...53,260,741
Ensembl chr26:53,258,642...53,259,097 		JBrowse link
G STK32C serine/threonine kinase 32C ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 9:124,797,427...124,920,284
Ensembl chr 9:124,797,095...124,895,621 		JBrowse link
G SYCE1 synaptonemal complex central element protein 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr26:53,416,791...53,429,688
Ensembl chr26:53,418,202...53,428,756 		JBrowse link
G TCERG1L transcription elongation regulator 1 like ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr 9:123,679,039...123,901,645 JBrowse link
G TUBGCP2 tubulin gamma complex component 2 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr26:53,129,752...53,157,576
Ensembl chr26:53,126,973...53,151,631 		JBrowse link
G UTF1 undifferentiated embryonic cell transcription factor 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835
G VENTX VENT homeobox ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835
G ZNF511 zinc finger protein 511 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chr26:53,157,506...53,161,756
Ensembl chr26:53,157,406...53,162,319 		JBrowse link
Generalized Hypertrichosis Terminalis, with or without Gingival Hyperplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA5 ATP binding cassette subfamily A member 5 ISO ClinVar Annotator: match by term: ABCA5-related condition | ClinVar Annotator: match by term: Gingival fibromatosis with hypertrichosis OMIM
ClinVar		 PMID:24831815 PMID:25741868 PMID:28492532 NCBI chr16:52,278,563...52,373,218
Ensembl chr16:52,278,573...52,362,273 		JBrowse link
hereditary nonpolyposis colorectal cancer type 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPCAM epithelial cell adhesion molecule ISO ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 8 OMIM
ClinVar		 PMID:16951683 PMID:19098912 PMID:21145788 PMID:21309036 PMID:23462293 More... NCBI chr14:59,815,128...59,832,360
Ensembl chr14:59,815,064...59,832,229 		JBrowse link
Holoprosencephaly 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLI2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES ClinVar PMID:25741868 PMID:28492532 NCBI chr10:9,302,890...9,561,287
Ensembl chr10:9,304,645...9,369,115 		JBrowse link
hypoparathyroidism-deafness-renal disease syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACBD7 acyl-CoA binding domain containing 7 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:15,054,321...15,066,045 JBrowse link
G AKR1E2 aldo-keto reductase family 1 member E2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:5,012,793...5,033,946
Ensembl chr 9:5,013,032...5,033,947 		JBrowse link
G ANKRD16 ankyrin repeat domain 16 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:5,969,869...5,997,795
Ensembl chr 9:5,984,250...5,997,657 		JBrowse link
G ARL5B ARF like GTPase 5B ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:18,576,547...18,598,994
Ensembl chr 9:18,576,463...18,592,635 		JBrowse link
G ASB13 ankyrin repeat and SOCS box containing 13 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:5,749,487...5,778,241 JBrowse link
G ATP5F1C ATP synthase F1 subunit gamma ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:7,836,863...7,853,645
Ensembl chr 9:7,836,845...7,854,078 		JBrowse link
G BEND7 BEN domain containing 7 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:13,468,831...13,549,822
Ensembl chr 9:13,466,815...13,549,715 		JBrowse link
G C1QL3 complement C1q like 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:16,458,459...16,471,788
Ensembl chr 9:16,460,994...16,467,453 		JBrowse link
G CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:18,075,436...18,470,985
Ensembl chr 9:18,332,165...18,469,617 		JBrowse link
G CALML3 calmodulin like 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:5,634,739...5,636,634
Ensembl chr 9:5,635,456...5,635,905 		JBrowse link
G CALML5 calmodulin like 5 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:5,609,208...5,610,478
Ensembl chr 9:5,609,912...5,610,352 		JBrowse link
G CAMK1D calcium/calmodulin dependent protein kinase ID ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:12,392,452...12,873,294
Ensembl chr 9:12,809,028...12,872,778 		JBrowse link
G CCDC3 coiled-coil domain containing 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:12,940,629...13,091,520 JBrowse link
G CDC123 cell division cycle 123 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:12,246,949...12,299,832
Ensembl chr 9:12,247,231...12,299,841 		JBrowse link
G CDNF cerebral dopamine neurotrophic factor ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:14,843,382...14,860,981
Ensembl chr 9:14,842,990...14,861,013 		JBrowse link
G CELF2 CUGBP Elav-like family member 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:10,534,623...11,395,516
Ensembl chr 9:11,080,404...11,388,136 		JBrowse link
G CUBN cubilin ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:16,774,644...17,079,776
Ensembl chr 9:16,774,757...17,079,681 		JBrowse link
G DCLRE1C DNA cross-link repair 1C ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:14,929,221...14,974,791
Ensembl chr 9:14,929,317...14,965,443 		JBrowse link
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:12,117,927...12,169,217 JBrowse link
G ECHDC3 enoyl-CoA hydratase domain containing 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:11,791,645...11,814,271
Ensembl chr 9:11,791,662...11,814,462 		JBrowse link
G FAM107B family with sequence similarity 107 member B ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:14,543,038...14,800,287
Ensembl chr 9:14,543,006...14,557,450 		JBrowse link
G FAM171A1 family with sequence similarity 171 member A1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:15,193,535...15,252,631
Ensembl chr 9:15,193,471...15,252,288 		JBrowse link
G FBH1 F-box DNA helicase 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:6,001,071...6,047,512
Ensembl chr 9:6,013,908...6,047,753 		JBrowse link
G FRMD4A FERM domain containing 4A ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:13,667,535...14,361,311
Ensembl chr 9:13,675,726...13,916,694 		JBrowse link
G GATA3 GATA binding protein 3 ISO ClinVar Annotator: match by term: GATA3-related condition | ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome OMIM
ClinVar		 PMID:9536098 PMID:10935639 PMID:11389161 PMID:14985365 PMID:15705923 More... NCBI chr 9:8,101,404...8,122,762
Ensembl chr 9:8,101,432...8,123,064 		JBrowse link
G GDI2 GDP dissociation inhibitor 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:5,876,245...5,923,011
Ensembl chr 9:5,877,042...5,922,968 		JBrowse link
G HACD1 3-hydroxyacyl-CoA dehydratase 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:17,537,945...17,565,831
Ensembl chr 9:17,536,611...17,565,383 		JBrowse link
G HSPA14 heat shock protein family A (Hsp70) member 14 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:14,861,069...14,893,508
Ensembl chr 9:14,861,211...14,893,677 		JBrowse link
G IL15RA interleukin 15 receptor subunit alpha ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:6,061,475...6,096,370
Ensembl chr 9:6,061,197...6,096,250 		JBrowse link
G IL2RA interleukin 2 receptor subunit alpha ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:6,134,961...6,187,731
Ensembl chr 9:6,141,430...6,149,447 		JBrowse link
G ITGA8 integrin subunit alpha 8 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:15,482,746...15,684,161
Ensembl chr 9:15,482,750...15,683,481 		JBrowse link
G ITIH2 inter-alpha-trypsin inhibitor heavy chain 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:7,748,818...7,794,932
Ensembl chr 9:7,749,464...7,794,933 		JBrowse link
G ITIH5 inter-alpha-trypsin inhibitor heavy chain 5 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:7,621,779...7,723,731
Ensembl chr 9:7,617,999...7,723,662 		JBrowse link
G KIN Kin17 DNA and RNA binding protein ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:7,801,716...7,836,958
Ensembl chr 9:7,799,492...7,836,719 		JBrowse link
G MCM10 minichromosome maintenance 10 replication initiation factor ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:13,200,018...13,252,830
Ensembl chr 9:13,204,246...13,253,367 		JBrowse link
G MEIG1 meiosis/spermiogenesis associated 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:14,974,886...14,993,903
Ensembl chr 9:14,987,172...14,993,926 		JBrowse link
G MINDY3 MINDY lysine 48 deubiquitinase 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:15,738,104...15,820,935
Ensembl chr 9:15,737,625...15,820,266 		JBrowse link
G NET1 neuroepithelial cell transforming 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:5,547,275...5,579,006
Ensembl chr 9:5,567,225...5,577,539 		JBrowse link
G NMT2 N-myristoyltransferase 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:15,081,828...15,145,935
Ensembl chr 9:15,080,787...15,145,899 		JBrowse link
G NSUN6 NOP2/Sun RNA methyltransferase 6 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:18,475,421...18,569,988
Ensembl chr 9:18,475,802...18,568,620 		JBrowse link
G NUDT5 nudix hydrolase 5 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:12,218,466...12,247,129 JBrowse link
G OLAH oleoyl-ACP hydrolase ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:15,028,667...15,048,611
Ensembl chr 9:15,032,574...15,048,568 		JBrowse link
G OPTN optineurin ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:13,142,036...13,176,996
Ensembl chr 9:13,150,426...13,177,021 		JBrowse link
G PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:6,267,766...6,354,775
Ensembl chr 9:6,332,570...6,354,932 		JBrowse link
G PHYH phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:13,309,059...13,331,606
Ensembl chr 9:13,308,951...13,331,504 		JBrowse link
G PRKCQ protein kinase C theta ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:6,532,438...6,675,708
Ensembl chr 9:6,532,319...6,621,487 		JBrowse link
G PROSER2 proline and serine rich 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:11,874,999...11,918,916
Ensembl chr 9:11,875,406...11,919,031 		JBrowse link
G PRPF18 pre-mRNA processing factor 18 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:13,606,432...13,650,727
Ensembl chr 9:13,606,433...13,652,849 		JBrowse link
G PTER phosphotriesterase related ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:16,382,479...16,539,382
Ensembl chr 9:16,429,776...16,457,737 		JBrowse link
G RBM17 RNA binding motif protein 17 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:6,213,477...6,240,945
Ensembl chr 9:6,221,570...6,239,678 		JBrowse link
G RPP38 ribonuclease P/MRP subunit p38 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:15,073,265...15,080,322
Ensembl chr 9:15,079,383...15,080,231 		JBrowse link
G RPP38-DT RPP38 divergent transcript ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:15,072,376...15,073,374 JBrowse link
G RSU1 Ras suppressor protein 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:16,539,230...16,768,526
Ensembl chr 9:16,535,573...16,768,593 		JBrowse link
G SEC61A2 SEC61 translocon subunit alpha 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:12,176,814...12,216,343
Ensembl chr 9:12,176,894...12,215,422 		JBrowse link
G SEPHS1 selenophosphate synthetase 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:13,348,588...13,375,559
Ensembl chr 9:13,345,798...13,375,536 		JBrowse link
G SFMBT2 Scm like with four mbt domains 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:7,219,723...7,474,928
Ensembl chr 9:7,226,295...7,445,892 		JBrowse link
G SLC39A12 solute carrier family 39 member 12 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:17,887,821...17,970,593
Ensembl chr 9:17,888,748...17,970,580 		JBrowse link
G ST8SIA6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:17,269,548...17,400,860 JBrowse link
G STAM signal transducing adaptor molecule ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:17,590,252...17,662,278
Ensembl chr 9:17,590,268...17,663,986 		JBrowse link
G SUV39H2 SUV39H2 histone lysine methyltransferase ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:14,900,503...14,924,017
Ensembl chr 9:14,900,945...14,923,447 		JBrowse link
G TAF3 TATA-box binding protein associated factor 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:7,865,433...8,063,932
Ensembl chr 9:7,865,519...8,063,923 		JBrowse link
G TASOR2 transcription activation suppressor family member 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:5,795,849...5,874,740
Ensembl chr 9:5,825,192...5,874,013 		JBrowse link
G TRDMT1 tRNA aspartic acid methyltransferase 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:17,098,086...17,166,267
Ensembl chr 9:17,100,491...17,155,826 		JBrowse link
G TUBAL3 tubulin alpha like 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:5,515,163...5,527,043 JBrowse link
G UCMA upper zone of growth plate and cartilage matrix associated ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:13,262,924...13,276,091
Ensembl chr 9:13,263,264...13,275,328 		JBrowse link
G UCN3 urocortin 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:5,491,134...5,500,663
Ensembl chr 9:5,498,945...5,499,430 		JBrowse link
G UPF2 UPF2 regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:11,967,294...12,094,120
Ensembl chr 9:11,967,269...12,093,709 		JBrowse link
G USP6NL USP6 N-terminal like ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:11,516,243...11,670,302
Ensembl chr 9:11,514,090...11,670,301 		JBrowse link
G VIM vimentin ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 9:17,183,466...17,191,771
Ensembl chr 9:17,183,388...17,191,829 		JBrowse link
hypotonia-cystinuria syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAMKMT calmodulin-lysine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism
OMIM:606407		 CTD
MouseDO		 PMID:26247364 NCBI chr14:62,457,493...62,879,767 JBrowse link
G PPM1B protein phosphatase, Mg2+/Mn2+ dependent 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr14:63,003,885...63,093,584
Ensembl chr14:63,016,553...63,093,592 		JBrowse link
G PREPL prolyl endopeptidase like ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr14:62,879,616...62,925,265
Ensembl chr14:62,875,133...62,924,746 		JBrowse link
G SLC3A1 solute carrier family 3 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr14:62,924,906...62,971,268
Ensembl chr14:62,925,443...62,971,252 		JBrowse link
Jacobsen Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:125,314,481...125,327,045
Ensembl chr 1:125,314,492...125,327,692 		JBrowse link
G ACRV1 acrosomal vesicle protein 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:116,812,667...116,821,625
Ensembl chr 1:116,812,726...116,821,073 		JBrowse link
G ADAMTS15 ADAM metallopeptidase with thrombospondin type 1 motif 15 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:121,510,798...121,538,715
Ensembl chr 1:121,510,849...121,535,609 		JBrowse link
G ADAMTS8 ADAM metallopeptidase with thrombospondin type 1 motif 8 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:121,465,341...121,491,301
Ensembl chr 1:121,465,883...121,489,200 		JBrowse link
G APLP2 amyloid beta precursor like protein 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:121,150,296...121,224,511
Ensembl chr 1:121,150,291...121,224,534 		JBrowse link
G ARHGAP32 Rho GTPase activating protein 32 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:120,108,671...120,333,200
Ensembl chr 1:120,112,042...120,329,370 		JBrowse link
G B3GAT1 beta-1,3-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:125,449,162...125,490,208
Ensembl chr 1:125,448,500...125,490,192 		JBrowse link
G BARX2 BARX homeobox 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:120,510,271...120,587,689
Ensembl chr 1:120,572,074...120,588,039 		JBrowse link
G CCDC15 coiled-coil domain containing 15 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:116,086,222...116,203,398 JBrowse link
G CDON cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:117,091,778...117,255,354
Ensembl chr 1:117,092,178...117,152,030 		JBrowse link
G CHEK1 checkpoint kinase 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:116,768,141...116,809,557
Ensembl chr 1:116,767,944...116,801,371 		JBrowse link
G DCPS decapping enzyme, scavenger ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:117,430,713...117,470,489
Ensembl chr 1:117,430,993...117,474,986 		JBrowse link
G DDX25 DEAD-box helicase 25 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:117,035,171...117,053,726
Ensembl chr 1:117,035,310...117,053,494 		JBrowse link
G EI24 EI24 autophagy associated transmembrane protein ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:116,711,922...116,727,208
Ensembl chr 1:116,714,578...116,726,216 		JBrowse link
G ESAM endothelial cell adhesion molecule ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:115,901,705...115,911,100
Ensembl chr 1:115,900,499...115,911,660 		JBrowse link
G ETS1 ETS proto-oncogene 1, transcription factor ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:119,588,476...119,736,623
Ensembl chr 1:119,588,448...119,652,299 		JBrowse link
G FAM118B family with sequence similarity 118 member B ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:117,338,770...117,388,081
Ensembl chr 1:117,338,806...117,387,567 		JBrowse link
G FLI1 Fli-1 proto-oncogene, ETS transcription factor ISO ClinVar Annotator: match by term: 11q partial monosomy syndrome | ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:15798196 PMID:24100448 PMID:25741868 PMID:28255014 PMID:28492532 More... NCBI chr 1:119,817,987...119,945,378
Ensembl chr 1:119,827,222...119,946,662 		JBrowse link
G FOXRED1 FAD dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:117,394,426...117,404,692
Ensembl chr 1:117,394,587...117,404,258 		JBrowse link
G GLB1L2 galactosidase beta 1 like 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:125,411,615...125,454,995
Ensembl chr 1:125,411,752...125,454,965 		JBrowse link
G GLB1L3 galactosidase beta 1 like 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:125,359,514...125,400,427
Ensembl chr 1:125,360,454...125,400,409 		JBrowse link
G HEPACAM hepatic and glial cell adhesion molecule ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:116,063,150...116,080,620
Ensembl chr 1:116,063,166...116,080,125 		JBrowse link
G HYLS1 HYLS1 centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:117,018,639...117,031,861
Ensembl chr 1:117,030,588...117,031,484 		JBrowse link
G IGSF9B immunoglobulin superfamily member 9B ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:124,969,228...125,021,334
Ensembl chr 1:124,974,027...125,021,200 		JBrowse link
G JAM3 junctional adhesion molecule 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:125,136,963...125,211,424 JBrowse link
G KCNJ1 potassium inwardly rectifying channel subfamily J member 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:119,971,282...120,040,752
Ensembl chr 1:119,969,370...119,986,411 		JBrowse link
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:120,025,238...120,098,006
Ensembl chr 1:120,025,300...120,057,023 		JBrowse link
G KIRREL3 kirre like nephrin family adhesion molecule 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:117,553,388...118,122,895
Ensembl chr 1:117,551,940...117,687,637 		JBrowse link
G LINC02873 long intergenic non-protein coding RNA 2873 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:121,728,378...121,769,817 JBrowse link
G LOC103248732 olfactory receptor 8B4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:115,566,649...115,572,103 JBrowse link
G LOC103248735 olfactory receptor 8A1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:115,716,235...115,717,942
Ensembl chr 1:115,716,545...115,717,525 		JBrowse link
G LOC103248766 fasciculation and elongation protein zeta-1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:116,617,835...116,668,601
Ensembl chr 1:116,617,714...116,668,574 		JBrowse link
G LOC119626457 olfactory receptor 8B12 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362
G MSANTD2 Myb/SANT DNA binding domain containing 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:115,915,378...115,950,108
Ensembl chr 1:115,915,084...115,948,889 		JBrowse link
G NCAPD3 non-SMC condensin II complex subunit D3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:125,212,744...125,285,488
Ensembl chr 1:125,210,486...125,284,920 		JBrowse link
G NFRKB nuclear factor related to kappaB binding protein ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:120,935,175...120,968,053
Ensembl chr 1:120,936,104...120,968,005 		JBrowse link
G NRGN neurogranin ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:115,888,289...115,895,809
Ensembl chr 1:115,894,095...115,894,313 		JBrowse link
G NTM neurotrimin ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:122,405,280...123,378,287
Ensembl chr 1:123,182,630...123,379,429 		JBrowse link
G OPCML opioid binding protein/cell adhesion molecule like ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:123,446,497...124,617,242
Ensembl chr 1:123,451,729...123,698,280 		JBrowse link
G PANX3 pannexin 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:115,757,147...115,767,034
Ensembl chr 1:115,757,901...115,766,295 		JBrowse link
G PATE1 prostate and testis expressed 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:116,903,979...116,908,304 JBrowse link
G PATE2 prostate and testis expressed 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:116,932,139...116,964,404 JBrowse link
G PATE3 prostate and testis expressed 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:116,950,362...116,953,774 JBrowse link
G PATE4 prostate and testis expressed 4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:116,996,163...117,003,586
Ensembl chr 1:116,996,723...117,001,796 		JBrowse link
G PKNOX2 PBX/knotted 1 homeobox 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:116,332,851...116,604,758
Ensembl chr 1:116,523,593...116,605,161 		JBrowse link
G PRDM10 PR/SET domain 10 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:120,982,207...121,086,938
Ensembl chr 1:120,982,993...121,044,928 		JBrowse link
G PUS3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:117,024,697...117,035,102
Ensembl chr 1:117,025,009...117,027,510 		JBrowse link
G ROBO3 roundabout guidance receptor 3 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:116,004,129...116,024,691
Ensembl chr 1:116,008,742...116,024,474 		JBrowse link
G ROBO4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:116,027,516...116,041,771
Ensembl chr 1:116,026,834...116,041,422 		JBrowse link
G RPUSD4 RNA pseudouridine synthase D4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:117,313,209...117,338,728
Ensembl chr 1:117,330,040...117,338,682 		JBrowse link
G SIAE sialic acid acetylesterase ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:115,782,624...115,822,707
Ensembl chr 1:115,782,964...115,820,284 		JBrowse link
G SLC37A2 solute carrier family 37 member 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:116,201,000...116,252,677
Ensembl chr 1:116,223,145...116,247,977 		JBrowse link
G SNX19 sorting nexin 19 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:121,927,660...121,968,101
Ensembl chr 1:121,930,165...121,968,075 		JBrowse link
G SPA17 sperm autoantigenic protein 17 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362
G SPATA19 spermatogenesis associated 19 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:124,916,744...124,921,918
Ensembl chr 1:124,918,093...124,921,722 		JBrowse link
G SRPRA SRP receptor subunit alpha ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:117,388,341...117,394,358
Ensembl chr 1:117,387,044...117,394,415 		JBrowse link
G ST14 ST14 transmembrane serine protease matriptase ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:121,238,666...121,290,528
Ensembl chr 1:121,238,643...121,290,007 		JBrowse link
G ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:117,479,328...117,543,262
Ensembl chr 1:117,480,451...117,542,671 		JBrowse link
G STT3A STT3 oligosaccharyltransferase complex catalytic subunit A ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:116,734,393...116,762,820
Ensembl chr 1:116,734,393...116,762,231 		JBrowse link
G TBRG1 transforming growth factor beta regulator 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:115,768,337...115,778,084
Ensembl chr 1:115,768,355...115,777,870 		JBrowse link
G THYN1 thymocyte nuclear protein 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:125,308,232...125,313,553 JBrowse link
G TIRAP TIR domain containing adaptor protein ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:117,417,561...117,419,870 JBrowse link
G TMEM218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:116,257,539...116,272,815
Ensembl chr 1:116,257,158...116,272,859 		JBrowse link
G TMEM45B transmembrane protein 45B ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:120,887,787...120,931,215
Ensembl chr 1:120,924,597...120,930,388 		JBrowse link
G TP53AIP1 tumor protein p53 regulated apoptosis inducing protein 1 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:120,077,522...120,080,158 JBrowse link
G VPS26B VPS26, retromer complex component B ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:125,284,997...125,307,748
Ensembl chr 1:125,285,056...125,305,549 		JBrowse link
G VSIG2 V-set and immunoglobulin domain containing 2 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:115,896,102...115,901,600
Ensembl chr 1:115,896,167...115,900,689 		JBrowse link
G ZBTB44 zinc finger and BTB domain containing 44 ISO ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia ClinVar PMID:32581362 NCBI chr 1:121,317,527...121,382,608 JBrowse link
Kleefstra syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA2 ATP binding cassette subfamily A member 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,161,340...1,183,807
Ensembl chr12:1,162,865...1,183,113 		JBrowse link
G ABCC9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:21344641 PMID:22610116 PMID:23307537 PMID:25590979 PMID:25741868 More... NCBI chr11:21,658,804...21,797,851
Ensembl chr11:21,658,794...21,797,263 		JBrowse link
G ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:4,677,237...4,718,825
Ensembl chr12:4,677,229...4,714,386 		JBrowse link
G ADAMTSL2 ADAMTS like 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:4,562,213...4,602,494
Ensembl chr12:4,562,864...4,602,282 		JBrowse link
G AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,511,063...1,525,146
Ensembl chr12:1,511,124...1,525,440 		JBrowse link
G AJM1 apical junction component 1 homolog ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,341,804...1,347,981
Ensembl chr12:1,341,927...1,344,854 		JBrowse link
G ANAPC2 anaphase promoting complex subunit 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:1,000,885...1,014,710
Ensembl chr12:1,000,952...1,016,261 		JBrowse link
G ARRDC1 arrestin domain containing 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:598,686...608,282
Ensembl chr12:595,342...608,198 		JBrowse link
G BRD3 bromodomain containing 3 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:4,075,123...4,112,727
Ensembl chr12:4,089,621...4,109,441 		JBrowse link
G CACFD1 calcium channel flower domain containing 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:4,665,927...4,676,671
Ensembl chr12:4,668,013...4,676,571 		JBrowse link
G CACNA1B calcium voltage-gated channel subunit alpha1 B ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:75,441...335,980
Ensembl chr12:78,011...335,820 		JBrowse link
G CAMSAP1 calmodulin regulated spectrin associated protein 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:27891178 PMID:28492532 More... NCBI chr12:2,298,341...2,395,392
Ensembl chr12:2,298,666...2,396,503 		JBrowse link
G CARD9 caspase recruitment domain family member 9 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,829,913...1,841,489
Ensembl chr12:1,832,989...1,837,914 		JBrowse link
G CCDC183 coiled-coil domain containing 183 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,379,961...1,391,539 JBrowse link
G CIMIP2A ciliary microtubule inner protein 2A ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:940,991...945,768
Ensembl chr12:941,485...945,650 		JBrowse link
G CLIC3 chloride intracellular channel 3 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,198,192...1,200,296
Ensembl chr12:1,198,387...1,200,246 		JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:3,301,643...3,507,300
Ensembl chr12:3,301,175...3,459,607 		JBrowse link
G CUNH9orf163 chromosome unknown C9orf163 homolog ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,716,912...1,718,064 JBrowse link
G CYSRT1 cysteine rich tail 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:963,069...964,706
Ensembl chr12:963,308...963,742 		JBrowse link
G DBH dopamine beta-hydroxylase ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:4,474,041...4,498,942
Ensembl chr12:4,474,958...4,498,910 		JBrowse link
G DIPK1B divergent protein kinase domain 1B ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,467,927...1,483,614
Ensembl chr12:1,464,007...1,483,573 		JBrowse link
G DNLZ DNL-type zinc finger ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,841,598...1,846,006
Ensembl chr12:1,841,738...1,843,462 		JBrowse link
G DPH7 diphthamide biosynthesis 7 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:633,517...651,892 JBrowse link
G DPP7 dipeptidyl peptidase 7 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,062,639...1,079,143
Ensembl chr12:1,074,811...1,079,550 		JBrowse link
G EDF1 endothelial differentiation related factor 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,322,424...1,327,241
Ensembl chr12:1,322,311...1,329,789 		JBrowse link
G EGFL7 EGF like domain multiple 7 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,525,615...1,535,024 JBrowse link
G EHMT1 euchromatic histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: EHMT1-related condition | ClinVar Annotator: match by term: Kleefstra syndrome 1 OMIM
ClinVar		 PMID:2663354 PMID:9536098 PMID:15805155 PMID:16199547 PMID:16826528 More... NCBI chr12:380,041...545,333
Ensembl chr12:379,943...497,033 		JBrowse link
G ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,137,500...1,142,798
Ensembl chr12:1,137,495...1,143,231 		JBrowse link
G ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:752,258...758,148
Ensembl chr12:752,774...757,614 		JBrowse link
G ENTR1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,791,860...1,800,874
Ensembl chr12:1,792,309...1,801,124 		JBrowse link
G EXD3 exonuclease 3'-5' domain containing 3 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:768,218...884,103
Ensembl chr12:803,896...884,049 		JBrowse link
G FAM163B family with sequence similarity 163 member B ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:4,525,338...4,560,676
Ensembl chr12:4,557,505...4,558,705 		JBrowse link
G FBXW5 F-box and WD repeat domain containing 5 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,246,416...1,250,930
Ensembl chr12:1,246,702...1,252,688 		JBrowse link
G FCN1 ficolin 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:3,227,790...3,236,161 JBrowse link
G FCN2 ficolin 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:3,255,810...3,264,561 JBrowse link
G FUT7 fucosyltransferase 7 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,158,353...1,160,913 JBrowse link
G GLT6D1 glycosyltransferase 6 domain containing 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:2,545,555...2,564,090
Ensembl chr12:2,547,780...2,563,731 		JBrowse link
G GPSM1 G protein signaling modulator 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,845,882...1,877,400
Ensembl chr12:1,847,233...1,877,265 		JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:1,020,556...1,050,568
Ensembl chr12:1,019,263...1,050,231 		JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,763,800...1,776,139
Ensembl chr12:1,763,865...1,776,712 		JBrowse link
G KCNT1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:27891178 PMID:28492532 More... NCBI chr12:2,410,520...2,502,176
Ensembl chr12:2,408,751...2,486,858 		JBrowse link
G KMT2C lysine methyltransferase 2C ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:25741868 PMID:39013459 NCBI chr21:120,299,295...120,587,843
Ensembl chr21:120,301,188...120,587,137 		JBrowse link
G LCN1 lipocalin 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:2,639,012...2,648,767
Ensembl chr12:2,640,102...2,648,073 		JBrowse link
G LCN10 lipocalin 10 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,452,484...1,456,311
Ensembl chr12:1,452,494...1,456,008 		JBrowse link
G LCN15 lipocalin 15 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,426,428...1,433,627
Ensembl chr12:1,427,420...1,431,282 		JBrowse link
G LCN6 lipocalin 6 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,446,886...1,451,406
Ensembl chr12:1,447,137...1,451,087 		JBrowse link
G LCN8 lipocalin 8 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,434,872...1,439,861
Ensembl chr12:1,435,151...1,438,604 		JBrowse link
G LCN9 lipocalin 9 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:2,526,003...2,530,175 JBrowse link
G LCNL1 lipocalin like 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,205,545...1,210,477 JBrowse link
G LHX3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,997,437...2,007,473
Ensembl chr12:2,000,638...2,006,430 		JBrowse link
G LOC103239589 chromosome 12 C9orf139 homolog ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,154,321...1,158,213 JBrowse link
G LOC103239599 complement component C8 gamma chain ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,233,119...1,246,410
Ensembl chr12:1,240,152...1,246,392 		JBrowse link
G LOC103239650 glycodelin ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:25741868 PMID:28492532 PMID:31209758 NCBI chr12:2,624,894...2,630,817
Ensembl chr12:2,625,017...2,630,602 		JBrowse link
G LOC103239687 surfeit locus protein 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:4,780,415...4,785,538
Ensembl chr12:4,780,568...4,785,385 		JBrowse link
G LRRC26 leucine rich repeat containing 26 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:1,018,560...1,020,556
Ensembl chr12:1,019,263...1,020,460 		JBrowse link
G MAMDC4 MAM domain containing 4 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,328,513...1,336,868
Ensembl chr12:1,328,709...1,336,868 		JBrowse link
G MAN1B1 mannosidase alpha class 1B member 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,080,492...1,104,981
Ensembl chr12:1,080,305...1,105,027 		JBrowse link
G MRPL41 mitochondrial ribosomal protein L41 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:654,233...654,942
Ensembl chr12:654,321...654,734 		JBrowse link
G MRPS2 mitochondrial ribosomal protein S2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:2,665,725...2,669,478
Ensembl chr12:2,665,620...2,669,407 		JBrowse link
G MYMK myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:4,611,952...4,623,373
Ensembl chr12:4,612,268...4,622,381 		JBrowse link
G NACC2 NACC family member 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:27891178 PMID:28492532 More... NCBI chr12:2,104,649...2,192,283
Ensembl chr12:2,148,312...2,192,432 		JBrowse link
G NDOR1 NADPH dependent diflavin oxidoreductase 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:970,256...983,893
Ensembl chr12:973,078...983,791 		JBrowse link
G NELFB negative elongation factor complex member B ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:914,384...933,921 JBrowse link
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,656,815...1,707,566
Ensembl chr12:1,656,918...1,709,585 		JBrowse link
G NOXA1 NADPH oxidase activator 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:758,107...769,252
Ensembl chr12:758,152...769,095 		JBrowse link
G NPDC1 neural proliferation, differentiation and control 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,144,810...1,151,593
Ensembl chr12:1,144,752...1,151,619 		JBrowse link
G NR1I3 nuclear receptor subfamily 1 group I member 3 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22726846 NCBI chr20:2,724,843...2,752,999
Ensembl chr20:2,744,908...2,756,658 		JBrowse link
G NRARP NOTCH regulated ankyrin repeat protein ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:888,636...891,269
Ensembl chr12:888,998...889,342 		JBrowse link
G NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:734,863...744,214
Ensembl chr12:735,127...744,659 		JBrowse link
G OLFM1 olfactomedin 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:3,028,681...3,063,754 JBrowse link
G PAXX PAXX non-homologous end joining factor ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,200,945...1,202,628
Ensembl chr12:1,201,116...1,202,505 		JBrowse link
G PHPT1 phosphohistidine phosphatase 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,338,205...1,340,143
Ensembl chr12:1,338,388...1,339,753 		JBrowse link
G PIERCE1 piercer of microtubule wall 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:2,669,623...2,674,929
Ensembl chr12:2,670,241...2,675,646 		JBrowse link
G PMPCA peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,778,376...1,791,878
Ensembl chr12:1,776,983...1,791,787 		JBrowse link
G PNPLA7 patatin like domain 7, lysophospholipase ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:655,723...734,315 JBrowse link
G PPP1R26 protein phosphatase 1 regulatory subunit 26 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:2,681,538...2,690,589
Ensembl chr12:2,682,299...2,685,943 		JBrowse link
G PTGDS prostaglandin D2 synthase ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,210,567...1,214,631
Ensembl chr12:1,211,487...1,214,531 		JBrowse link
G QSOX2 quiescin sulfhydryl oxidase 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,956,441...1,997,344 JBrowse link
G RABL6 RAB, member RAS oncogene family like 6 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,348,082...1,379,779
Ensembl chr12:1,348,742...1,379,518 		JBrowse link
G REXO4 REX4 homolog, 3'-5' exonuclease ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:4,718,728...4,732,138
Ensembl chr12:4,718,799...4,731,241 		JBrowse link
G RNF208 ring finger protein 208 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:964,434...968,163
Ensembl chr12:968,438...969,223
Ensembl chr12:968,438...969,223 		JBrowse link
G RNF224 ring finger protein 224 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:959,725...962,962 JBrowse link
G RXRA retinoid X receptor alpha ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:3,704,129...3,814,707
Ensembl chr12:3,699,923...3,814,678 		JBrowse link
G SAPCD2 suppressor APC domain containing 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,119,873...1,127,966
Ensembl chr12:1,121,302...1,127,533 		JBrowse link
G SARDH sarcosine dehydrogenase ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:4,397,312...4,469,890
Ensembl chr12:4,397,539...4,469,562 		JBrowse link
G SEC16A SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,718,520...1,763,562
Ensembl chr12:1,724,838...1,761,941 		JBrowse link
G SLC2A6 solute carrier family 2 member 6 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:4,649,140...4,665,609
Ensembl chr12:4,657,613...4,664,669 		JBrowse link
G SLC34A3 solute carrier family 34 member 3 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:952,486...958,602
Ensembl chr12:952,278...957,308 		JBrowse link
G SNAPC4 small nuclear RNA activating complex polypeptide 4 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,801,975...1,829,823
Ensembl chr12:1,802,937...1,829,968 		JBrowse link
G SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:2,493,066...2,508,396 JBrowse link
G SSNA1 SS nuclear autoantigen 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:999,142...1,000,877
Ensembl chr12:999,327...1,000,831 		JBrowse link
G STKLD1 serine/threonine kinase like domain containing 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:4,732,267...4,763,687
Ensembl chr12:4,732,772...4,759,244 		JBrowse link
G STPG3 sperm-tail PG-rich repeat containing 3 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:934,282...937,697 JBrowse link
G SURF2 surfeit 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:4,775,521...4,780,468
Ensembl chr12:4,775,554...4,780,428 		JBrowse link
G SURF4 surfeit 4 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:4,759,307...4,775,227
Ensembl chr12:4,759,388...4,776,219 		JBrowse link
G TMEM141 transmembrane protein 141 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,393,836...1,395,816
Ensembl chr12:1,393,944...1,395,740 		JBrowse link
G TMEM203 transmembrane protein 203 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:983,920...985,467
Ensembl chr12:983,946...984,623 		JBrowse link
G TMEM210 transmembrane protein 210 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:1,017,365...1,018,463
Ensembl chr12:1,017,378...1,018,418 		JBrowse link
G TMEM250 transmembrane protein 250 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:27891178 PMID:28492532 More... NCBI chr12:2,081,265...2,085,553
Ensembl chr12:2,083,261...2,083,680 		JBrowse link
G TOR4A torsin family 4 member A ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:908,956...911,198
Ensembl chr12:908,975...910,246 		JBrowse link
G TPRN taperin ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:988,225...997,914 JBrowse link
G TRAF2 TNF receptor associated factor 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,263,688...1,309,626
Ensembl chr12:1,263,274...1,290,907 		JBrowse link
G TUBB4B tubulin beta 4B class IVb ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:945,643...948,087
Ensembl chr12:945,459...948,065 		JBrowse link
G UAP1L1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 PMID:27891178 More... NCBI chr12:1,106,245...1,113,363 JBrowse link
G UBAC1 UBA domain containing 1 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:19264732 PMID:22318994 PMID:22890305 PMID:27891178 PMID:28492532 More... NCBI chr12:2,237,860...2,266,011
Ensembl chr12:2,238,013...2,266,498 		JBrowse link
G VAV2 vav guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:4,142,966...4,377,849
Ensembl chr12:4,143,139...4,377,852 		JBrowse link
G WDR5 WD repeat domain 5 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:22318994 PMID:22890305 PMID:28492532 PMID:31209758 NCBI chr12:3,982,998...4,007,605
Ensembl chr12:3,983,013...4,007,119 		JBrowse link
G ZMYND19 zinc finger MYND-type containing 19 ISO ClinVar Annotator: match by term: Kleefstra syndrome 1 ClinVar PMID:16826528 PMID:19264732 PMID:22318994 PMID:22890305 PMID:25741868 More... NCBI chr12:621,599...630,703
Ensembl chr12:621,651...632,887 		JBrowse link
Koolen de Vries syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATM ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Koolen-de Vries syndrome ClinVar PMID:9043869 PMID:10817650 PMID:12815592 PMID:16238588 PMID:17124347 More... NCBI chr 1:99,653,208...99,786,889
Ensembl chr 1:99,653,139...99,791,520 		JBrowse link
G CUNH11orf65 chromosome unknown C11orf65 homolog ISO ClinVar Annotator: match by term: Koolen-de Vries syndrome ClinVar PMID:9043869 PMID:10817650 PMID:12815592 PMID:16238588 PMID:17124347 More... NCBI chr 1:99,804,191...99,879,834
Ensembl chr 1:99,804,218...99,827,182 		JBrowse link
G KANSL1 KAT8 regulatory NSL complex subunit 1 ISO ClinVar Annotator: match by term: KANSL1-Related Intellectual Disability Syndrome | ClinVar Annotator: match by term: Koolen-de Vries syndrome OMIM
ClinVar		 PMID:2544363 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18628315 More... NCBI chr16:59,692,890...59,888,955
Ensembl chr16:59,747,522...59,890,061 		JBrowse link
G LOC103243260 corticotropin-releasing factor receptor 1 ISO ClinVar Annotator: match by term: Koolen-de Vries syndrome ClinVar PMID:18628315 PMID:21094706 PMID:28492532 NCBI chr16:60,070,156...60,120,857
Ensembl chr16:60,070,066...60,120,712 		JBrowse link
G LOC103243271 leucine-rich repeat-containing protein 37A3 ISO ClinVar Annotator: match by term: Koolen-de Vries syndrome ClinVar PMID:25741868 NCBI chr16:59,592,891...59,634,813 JBrowse link
G MAPT microtubule associated protein tau ISO ClinVar Annotator: match by term: KANSL1-Related Intellectual Disability Syndrome | ClinVar Annotator: match by term: Koolen-de Vries syndrome ClinVar PMID:18628315 PMID:21094706 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr16:59,894,400...60,020,723
Ensembl chr16:59,890,221...59,955,612 		JBrowse link
G SPPL2C signal peptide peptidase like 2C ISO ClinVar Annotator: match by term: Koolen-de Vries syndrome ClinVar PMID:18628315 PMID:21094706 PMID:28492532 NCBI chr16:60,059,144...60,062,178 JBrowse link
G STH saitohin ISO ClinVar Annotator: match by term: Koolen-de Vries syndrome ClinVar PMID:18628315 PMID:21094706 PMID:28492532 NCBI chr16:59,915,844...59,920,081 JBrowse link
Miller-Dieker lissencephaly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DPH1 diphthamide biosynthesis 1 ISO OMIM:247200 MouseDO NCBI chr16:1,670,248...1,682,070
Ensembl chr16:1,670,112...1,680,535 		JBrowse link
G HIC1 HIC ZBTB transcriptional repressor 1 ISO OMIM:247200 MouseDO NCBI chr16:1,687,560...1,697,888
Ensembl chr16:1,694,341...1,697,023 		JBrowse link
G MNT MAX network transcriptional repressor ISO OMIM:247200 MouseDO NCBI chr16:2,015,450...2,032,742
Ensembl chr16:2,014,450...2,033,024 		JBrowse link
G MYO1C myosin IC ISO ClinVar Annotator: match by term: Miller Dieker syndrome ClinVar PMID:25741868 NCBI chr16:1,137,469...1,167,497 JBrowse link
G PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 ISO OMIM:247200 MouseDO NCBI chr16:2,270,126...2,293,705
Ensembl chr16:2,270,085...2,296,825 		JBrowse link
G YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon ISO OMIM:247200 MouseDO NCBI chr16:1,031,840...1,086,950
Ensembl chr16:1,035,250...1,087,013 		JBrowse link
Monosomy 7 Myelodysplasia and Leukemia Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SAMD9L sterile alpha motif domain containing 9 like ISO ClinVar Annotator: match by term: Monosomy 7 myelodysplasia and leukemia syndrome 1 | ClinVar Annotator: match by term: Monosomy 7 of bone marrow OMIM
ClinVar		 PMID:2569483 PMID:25741868 PMID:27259050 PMID:28202457 PMID:28492532 More... NCBI chr21:55,865,869...55,883,593
Ensembl chr21:55,878,526...55,883,280 		JBrowse link
Monosomy 7 Myelodysplasia and Leukemia Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SAMD9 sterile alpha motif domain containing 9 ISO ClinVar Annotator: match by term: Monosomy 7 myelodysplasia and leukemia syndrome 2 OMIM
ClinVar		 PMID:2569483 PMID:25741868 PMID:28346228 PMID:28487541 PMID:28492532 More... NCBI chr21:55,895,799...55,913,845
Ensembl chr21:55,907,249...55,912,015 		JBrowse link
NFIA-related disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NFIA nuclear factor I A ISO ClinVar Annotator: match by term: Brain malformations with or without urinary tract defects | ClinVar Annotator: match by term: Chromosome 1p32-p31 deletion syndrome | ClinVar Annotator: match by term: NFIA-related disorder OMIM
ClinVar		 PMID:10518556 PMID:17530927 PMID:19058033 PMID:19763616 PMID:20673863 More... NCBI chr20:71,573,729...72,171,268 JBrowse link
Phelan-McDermid syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACR acrosin ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:33,231,521...33,236,141 JBrowse link
G ADM2 adrenomedullin 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,951,199...32,953,251
Ensembl chr19:32,952,115...32,953,157 		JBrowse link
G ALG12 ALG12 alpha-1,6-mannosyltransferase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,395,413...32,420,160 JBrowse link
G ARHGAP8 Rho GTPase activating protein 8 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:27,238,379...27,328,338 JBrowse link
G ARSA arylsulfatase A ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:33,102,803...33,105,958
Ensembl chr19:33,100,117...33,105,926 		JBrowse link
G ATXN10 ataxin 10 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:28,128,644...28,307,061
Ensembl chr19:28,128,688...28,308,617 		JBrowse link
G BIK BCL2 interacting killer ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:25,632,837...25,658,951
Ensembl chr19:25,652,945...25,658,541 		JBrowse link
G BRD1 bromodomain containing 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,261,796...32,323,528
Ensembl chr19:32,261,833...32,320,706 		JBrowse link
G CDPF1 cysteine rich DPF motif domain containing 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:28,717,333...28,724,072
Ensembl chr19:28,718,403...28,721,581 		JBrowse link
G CELSR1 cadherin EGF LAG seven-pass G-type receptor 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:28,842,332...29,030,672
Ensembl chr19:28,844,644...29,030,216 		JBrowse link
G CERK ceramide kinase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:29,183,324...29,236,857 JBrowse link
G CHKB choline kinase beta ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:33,055,296...33,059,442
Ensembl chr19:33,055,294...33,059,230 		JBrowse link
G CIMAP1B ciliary microtubule associated protein 1B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:33,001,537...33,004,063
Ensembl chr19:33,001,954...33,003,852 		JBrowse link
G COL4A5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar PMID:25741868 NCBI chr  X:96,307,927...96,570,592 JBrowse link
G CPT1B carnitine palmitoyltransferase 1B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:33,044,272...33,055,197
Ensembl chr19:33,043,916...33,054,247 		JBrowse link
G CRELD2 cysteine rich with EGF like domains 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,420,315...32,430,770
Ensembl chr19:32,420,370...32,430,904 		JBrowse link
G DENND6B DENN domain containing 6B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,801,068...32,815,384 JBrowse link
G EFCAB6 EF-hand calcium binding domain 6 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:26,023,566...26,327,309
Ensembl chr19:26,023,643...26,295,493 		JBrowse link
G FAM118A family with sequence similarity 118 member A ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:27,779,600...27,811,763
Ensembl chr19:27,779,521...27,813,370 		JBrowse link
G FBLN1 fibulin 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:27,962,669...28,061,356
Ensembl chr19:27,962,642...28,061,364 		JBrowse link
G GRAMD4 GRAM domain containing 4 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:29,068,166...29,175,646
Ensembl chr19:29,070,023...29,172,977 		JBrowse link
G GTSE1 G2 and S-phase expressed 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:28,776,515...28,811,712
Ensembl chr19:28,777,821...28,811,035 		JBrowse link
G HDAC10 histone deacetylase 10 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,735,091...32,741,200
Ensembl chr19:32,735,406...32,740,817 		JBrowse link
G IL17REL interleukin 17 receptor E like ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,496,780...32,513,309
Ensembl chr19:32,501,039...32,505,181 		JBrowse link
G INS insulin ISO CTD Direct Evidence: therapeutic CTD PMID:18948358 NCBI chr 1:1,965,128...1,969,090 JBrowse link
G KIAA0930 KIAA0930 ortholog ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:27,664,808...27,709,670
Ensembl chr19:27,666,148...27,709,638 		JBrowse link
G KLHDC7B kelch domain containing 7B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:33,020,849...33,022,961 JBrowse link
G LMF2 lipase maturation factor 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,973,979...32,978,433
Ensembl chr19:32,974,420...32,978,374 		JBrowse link
G LOC103223489 PRR34 long non-coding RNA ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:28,518,869...28,523,215 JBrowse link
G MAPK11 mitogen-activated protein kinase 11 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,754,261...32,760,859
Ensembl chr19:32,752,546...32,760,798 		JBrowse link
G MAPK12 mitogen-activated protein kinase 12 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,742,625...32,754,152 JBrowse link
G MAPK8IP2 mitogen-activated protein kinase 8 interacting protein 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:33,079,548...33,090,221
Ensembl chr19:33,079,626...33,091,514 		JBrowse link
G MCAT malonyl-CoA-acyl carrier protein transacylase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:25,647,290...25,671,239
Ensembl chr19:25,659,856...25,670,894 		JBrowse link
G MIOX myo-inositol oxygenase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,953,268...32,960,123
Ensembl chr19:32,957,256...32,961,023 		JBrowse link
G MLC1 modulator of VRAC current 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,559,208...32,583,522
Ensembl chr19:32,557,536...32,583,060 		JBrowse link
G MOV10L1 Mov10 like RNA helicase 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,586,652...32,653,563
Ensembl chr19:32,587,008...32,653,886 		JBrowse link
G MPPED1 metallophosphoesterase domain containing 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:25,978,304...26,013,760 JBrowse link
G NCAPH2 non-SMC condensin II complex subunit H2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,978,771...32,995,055
Ensembl chr19:32,978,562...32,997,160 		JBrowse link
G NUP50 nucleoporin 50 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:27,632,467...27,656,892
Ensembl chr19:27,632,545...27,653,563 		JBrowse link
G PANX2 pannexin 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,662,350...32,671,536 JBrowse link
G PARVB parvin beta ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:26,536,346...26,672,740
Ensembl chr19:26,606,974...26,672,190 		JBrowse link
G PARVG parvin gamma ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:26,684,758...26,710,880
Ensembl chr19:26,687,728...26,711,541 		JBrowse link
G PHF21B PHD finger protein 21B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:27,353,586...27,501,080 JBrowse link
G PIM3 Pim-3 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,466,432...32,470,001
Ensembl chr19:32,466,771...32,470,006 		JBrowse link
G PKDREJ polycystin family receptor for egg jelly ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:28,728,474...28,736,676
Ensembl chr19:28,729,375...28,736,145 		JBrowse link
G PLXNB2 plexin B2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,764,329...32,797,223
Ensembl chr19:32,764,272...32,784,566 		JBrowse link
G PNPLA3 patatin like domain 3, 1-acylglycerol-3-phosphate O-acyltransferase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:26,435,302...26,458,368
Ensembl chr19:26,435,599...26,462,210 		JBrowse link
G PNPLA5 patatin like domain 5, triacylglycerol lipase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:26,396,040...26,408,553
Ensembl chr19:26,397,163...26,408,126 		JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar
G PPP6R2 protein phosphatase 6 regulatory subunit 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,824,732...32,917,356
Ensembl chr19:32,866,039...32,916,534 		JBrowse link
G PRR5 proline rich 5 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:27,164,900...27,225,398
Ensembl chr19:27,165,278...27,226,907 		JBrowse link
G RABL2B RAB, member of RAS oncogene family like 2B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:33,247,315...33,261,631 JBrowse link
G RIBC2 RIB43A domain with coiled-coils 2 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:27,879,777...27,900,198
Ensembl chr19:27,879,972...27,900,659 		JBrowse link
G RTL6 retrotransposon Gag like 6 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:26,976,277...26,981,092
Ensembl chr19:26,979,791...26,980,510 		JBrowse link
G SAMM50 SAMM50 sorting and assembly machinery component ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:26,467,319...26,509,695
Ensembl chr19:26,467,278...26,510,168 		JBrowse link
G SBF1 SET binding factor 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,919,029...32,945,333
Ensembl chr19:32,919,341...32,938,690 		JBrowse link
G SCO2 SCO2, cytochrome c oxidase assembly protein ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,995,153...32,997,249
Ensembl chr19:32,995,196...32,995,996 		JBrowse link
G SCUBE1 signal peptide, CUB domain and EGF like domain containing 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:25,731,128...25,873,120 JBrowse link
G SELENOO selenoprotein O ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,692,237...32,708,595
Ensembl chr19:32,693,005...32,708,437 		JBrowse link
G SHANK3 SH3 and multiple ankyrin repeat domains 3 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome OMIM
ClinVar		 PMID:17173049 PMID:20301377 PMID:21062623 PMID:22892527 PMID:23758743 More... NCBI chr19:33,155,695...33,209,679
Ensembl chr19:33,155,770...33,208,224 		JBrowse link
G SHISAL1 shisa like 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:26,755,029...26,832,855
Ensembl chr19:26,755,829...26,833,072 		JBrowse link
G SMC1B structural maintenance of chromosomes 1B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:27,814,944...27,879,692
Ensembl chr19:27,815,442...27,879,640 		JBrowse link
G SULT4A1 sulfotransferase family 4A member 1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:26,339,693...26,379,260
Ensembl chr19:26,339,582...26,379,249 		JBrowse link
G SYCE3 synaptonemal complex central element protein 3 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:33,023,956...33,038,641
Ensembl chr19:33,023,960...33,038,600 		JBrowse link
G TAFA5 TAFA chemokine like family member 5 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:30,985,913...31,247,087
Ensembl chr19:31,073,084...31,247,161 		JBrowse link
G TBC1D22A TBC1 domain family member 22A ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:29,260,995...29,681,768
Ensembl chr19:29,261,018...29,684,409 		JBrowse link
G TCF20 transcription factor 20 ISO OMIM:606232 MouseDO NCBI chr19:24,693,036...24,877,150
Ensembl chr19:24,692,374...24,853,507 		JBrowse link
G TRABD TraB domain containing ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,677,292...32,691,565
Ensembl chr19:32,684,603...32,692,742 		JBrowse link
G TRMU tRNA mitochondrial 2-thiouridylase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:28,816,293...28,838,259
Ensembl chr19:28,816,524...28,837,935 		JBrowse link
G TSPO translocator protein ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:25,678,602...25,690,556
Ensembl chr19:25,686,981...25,690,768 		JBrowse link
G TTC38 tetratricopeptide repeat domain 38 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:28,749,590...28,775,475
Ensembl chr19:28,749,657...28,777,171 		JBrowse link
G TTLL1 TTL family tubulin polyglutamylase complex subunit L1 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:25,576,525...25,616,413
Ensembl chr19:25,576,379...25,616,328 		JBrowse link
G TTLL12 tubulin tyrosine ligase like 12 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:25,693,844...25,714,386
Ensembl chr19:25,692,610...25,714,342 		JBrowse link
G TTLL8 tubulin tyrosine ligase like 8 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,519,898...32,556,437
Ensembl chr19:32,520,001...32,555,079 		JBrowse link
G TUBGCP6 tubulin gamma complex component 6 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,708,760...32,735,000
Ensembl chr19:32,708,807...32,734,373 		JBrowse link
G TYMP thymidine phosphorylase ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,997,337...33,001,558
Ensembl chr19:32,997,304...33,001,215 		JBrowse link
G UPK3A uroplakin 3A ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:27,749,232...27,761,309
Ensembl chr19:27,750,876...27,761,295 		JBrowse link
G WNT7B Wnt family member 7B ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:28,387,324...28,444,019
Ensembl chr19:28,385,422...28,441,350 		JBrowse link
G ZBED4 zinc finger BED-type containing 4 ISO ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr19:32,349,021...32,382,481
Ensembl chr19:32,377,676...32,381,191 		JBrowse link
Rubinstein Taybi like Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASXL1 ASXL transcriptional regulator 1 ISO ClinVar Annotator: match by term: Rubinstein Taybi like syndrome ClinVar PMID:16412590 PMID:30806792 NCBI chr 2:36,735,449...36,810,447
Ensembl chr 2:36,735,830...36,812,387 		JBrowse link
G KMT2A lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Rubinstein Taybi like syndrome ClinVar PMID:30806792 NCBI chr 1:109,819,748...109,912,763
Ensembl chr 1:109,853,758...109,908,113 		JBrowse link
G KMT2D lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Rubinstein Taybi like syndrome ClinVar PMID:30806792 NCBI chr11:45,260,873...45,303,898
Ensembl chr11:45,263,408...45,302,423 		JBrowse link
Rubinstein-Taybi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACO2 aconitase 2 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr19:24,008,602...24,068,346
Ensembl chr19:24,008,667...24,071,356 		JBrowse link
G ADCY9 adenylate cyclase 9 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 ClinVar PMID:12114483 PMID:15706485 PMID:17052327 PMID:17855048 PMID:18688873 More... NCBI chr 5:3,641,359...3,796,697
Ensembl chr 5:3,641,349...3,796,198 		JBrowse link
G ADSL adenylosuccinate lyase ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr19:22,920,971...22,940,468 JBrowse link
G ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 More... NCBI chr 5:4,739,019...4,752,292
Ensembl chr 5:4,739,048...4,753,119 		JBrowse link
G ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr 5:4,378,318...4,413,266
Ensembl chr 5:4,375,517...4,413,199 		JBrowse link
G APOBEC3B apolipoprotein B mRNA editing enzyme catalytic subunit 3B ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532
G APOBEC3C apolipoprotein B mRNA editing enzyme catalytic subunit 3C ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr19:21,657,588...21,662,061
Ensembl chr19:21,657,702...21,661,643 		JBrowse link
G APOBEC3D apolipoprotein B mRNA editing enzyme catalytic subunit 3D ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr19:21,606,278...21,695,429
Ensembl chr19:21,665,117...21,698,449 		JBrowse link
G APOBEC3G apolipoprotein B mRNA editing enzyme catalytic subunit 3G ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr19:21,717,867...21,732,276
Ensembl chr19:21,717,889...21,732,839 		JBrowse link
G APOBEC3H apolipoprotein B mRNA editing enzyme catalytic subunit 3H ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr19:21,734,362...21,749,148
Ensembl chr19:21,742,084...21,749,288 		JBrowse link
G ATF4 activating transcription factor 4 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr19:22,092,046...22,094,184
Ensembl chr19:22,091,667...22,095,230 		JBrowse link
G CACNA1I calcium voltage-gated channel subunit alpha1 I ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr19:22,129,795...22,264,485
Ensembl chr19:22,143,980...22,261,098 		JBrowse link
G CBX7 chromobox 7 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr19:21,776,618...21,798,525
Ensembl chr19:21,775,931...21,798,309 		JBrowse link
G CDIP1 cell death inducing p53 target 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr 5:4,201,578...4,230,583
Ensembl chr 5:4,199,922...4,230,533 		JBrowse link
G CHADL chondroadherin like ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr19:23,772,516...23,785,210
Ensembl chr19:23,778,433...23,783,250 		JBrowse link
G CLUAP1 clusterin associated protein 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chr 5:3,196,257...3,236,912 JBrowse link
G CREBBP CREB binding protein ISO ClinVar Annotator: match by term: BROAD THUMB-HALLUX SYNDROME | ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: CREBBP-related condition | ClinVar Annotator: match by term: RUBINSTEIN SYNDROME | ClinVar Annotator: match by term: RUBINSTEIN-TAYBI SYNDROME 2 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1		 OMIM
ClinVar		 PMID:7630403 PMID:8967953 PMID:9536098 PMID:11331617 PMID:12070251 More... NCBI chr 5:3,415,548...3,570,030
Ensembl chr 5:3,415,412...3,540,943 		JBrowse link
G CUNH16orf89 chromosome unknown C16orf89 homolog ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 More... NCBI chr 5:4,714,323...4,735,290
Ensembl chr 5:4,714,313...4,734,915 		JBrowse link
G CUNH16orf90 chromosome unknown C16orf90 homolog ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chr 5:3,190,148...3,192,091 JBrowse link
G CUNH16orf96 chromosome unknown C16orf96 homolog ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr 5:4,245,799...4,286,742 JBrowse link
G DNAAF8 dynein axonemal assembly factor 8 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr 5:4,413,292...4,427,925 JBrowse link
G DNAJA3 DnaJ heat shock protein family (Hsp40) member A3 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr 5:4,109,612...4,139,789 JBrowse link
G DNAJB7 DnaJ heat shock protein family (Hsp40) member B7 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:15706485 PMID:24476420 PMID:28492532 NCBI chr19:23,406,249...23,407,805 JBrowse link
G DNASE1 deoxyribonuclease 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chr 5:3,310,853...3,352,483
Ensembl chr 5:3,310,824...3,339,870 		JBrowse link
G EEF2KMT eukaryotic elongation factor 2 lysine methyltransferase ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 More... NCBI chr 5:4,752,247...4,768,240 JBrowse link
G ENTHD1 ENTH domain containing 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr19:22,322,458...22,472,341
Ensembl chr19:22,323,094...22,465,813 		JBrowse link
G EP300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: CREBBP-related condition | ClinVar Annotator: match by term: RUBINSTEIN-TAYBI SYNDROME 2 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: CREBBP-related condition | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2		 OMIM
ClinVar		 PMID:9536098 PMID:10700188 PMID:15706485 PMID:16199547 PMID:17299436 More... NCBI chr19:23,634,132...23,726,095
Ensembl chr19:23,634,571...23,724,979 		JBrowse link
G FAM83F family with sequence similarity 83 member F ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr19:22,572,387...22,606,348
Ensembl chr19:22,572,483...22,605,897 		JBrowse link
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: CREBBP-related condition ClinVar PMID:10633133 PMID:10983956 PMID:11385713 PMID:11438992 PMID:12111646 More... NCBI chr 3:801,786...808,165
Ensembl chr 3:807,379...808,059 		JBrowse link
G GLIS2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 ClinVar PMID:12114483 PMID:15706485 PMID:17052327 PMID:17855048 PMID:18688873 More... NCBI chr 5:3,996,333...4,019,499
Ensembl chr 5:3,996,372...4,019,542 		JBrowse link
G GLYR1 glyoxylate reductase 1 homolog ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 More... NCBI chr 5:4,473,222...4,518,150
Ensembl chr 5:4,475,227...4,518,071 		JBrowse link
G GRAP2 GRB2 related adaptor protein 2 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr19:22,478,744...22,548,829
Ensembl chr19:22,524,851...22,552,977 		JBrowse link
G HMOX2 heme oxygenase 2 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr 5:4,157,402...4,201,223 JBrowse link
G L3MBTL2 L3MBTL histone methyl-lysine binding protein 2 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr19:23,749,894...23,774,749
Ensembl chr19:23,750,212...23,776,947 		JBrowse link
G LOC103227360 olfactory receptor 2C1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chr 5:3,032,514...3,071,413
Ensembl chr 5:3,069,895...3,070,824 		JBrowse link
G LOC103227636 coronin-7 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr 5:4,034,282...4,098,554
Ensembl chr 5:4,020,116...4,098,328 		JBrowse link
G MCHR1 melanin concentrating hormone receptor 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:15706485 PMID:24476420 PMID:28492532 NCBI chr19:23,240,509...23,245,553
Ensembl chr19:23,241,487...23,243,950 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chr 5:2,971,323...2,991,501 JBrowse link
G MGAT3 beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr19:22,019,351...22,065,551
Ensembl chr19:22,060,736...22,062,337 		JBrowse link
G MGRN1 mahogunin ring finger 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr 5:4,310,924...4,372,896
Ensembl chr 5:4,310,970...4,375,423 		JBrowse link
G MIEF1 mitochondrial elongation factor 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr19:22,072,217...22,087,577
Ensembl chr19:22,081,838...22,085,527 		JBrowse link
G MRTFA myocardin related transcription factor A ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr19:22,980,071...23,197,199
Ensembl chr19:22,981,216...23,034,179 		JBrowse link
G MTRNR2L4 MT-RNR2 like 4 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chr 5:3,083,439...3,086,054
Ensembl chr 5:3,085,475...3,085,558 		JBrowse link
G NAA60 N-alpha-acetyltransferase 60, NatF catalytic subunit ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chr 5:3,144,307...3,184,108
Ensembl chr 5:3,173,475...3,181,996 		JBrowse link
G NAGPA N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 More... NCBI chr 5:4,695,824...4,705,336
Ensembl chr 5:4,695,826...4,705,172 		JBrowse link
G NLRC3 NLR family CARD domain containing 3 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chr 5:3,241,552...3,262,763
Ensembl chr 5:3,242,242...3,262,261 		JBrowse link
G NMRAL1 NmrA like redox sensor 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr 5:4,142,965...4,164,217
Ensembl chr 5:4,143,051...4,163,391 		JBrowse link
G NUDT16L1 nudix hydrolase 16 like 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr 5:4,372,989...4,377,679
Ensembl chr 5:4,375,517...4,377,032 		JBrowse link
G PAM16 presequence translocase associated motor 16 ISO ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation
ClinVar Annotator: match by term: Rubinstein-Taybi syndrome		 ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr 5:4,020,116...4,031,233 JBrowse link
G PANK2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:11479594 PMID:12510040 PMID:15659606 PMID:15834858 PMID:16272150 More... NCBI chr 2:34,577,859...34,612,258
Ensembl chr 2:34,578,207...34,611,987 		JBrowse link
G PDGFB platelet derived growth factor subunit B ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr19:21,865,792...21,888,068
Ensembl chr19:21,863,768...21,886,395 		JBrowse link
G PHF5A PHD finger protein 5A ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr19:23,998,277...24,008,504
Ensembl chr19:23,998,127...24,008,173 		JBrowse link
G PPL periplakin ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 More... NCBI chr 5:4,554,837...4,610,427
Ensembl chr 5:4,555,682...4,610,278 		JBrowse link
G RANGAP1 Ran GTPase activating protein 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr19:23,789,839...23,829,653
Ensembl chr19:23,788,241...23,829,631 		JBrowse link
G RBX1 ring-box 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:15706485 PMID:24476420 PMID:28492532 NCBI chr19:23,500,361...23,521,676
Ensembl chr19:23,500,356...23,522,723 		JBrowse link
G ROGDI rogdi atypical leucine zipper ISO ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation
ClinVar Annotator: match by term: Rubinstein-Taybi syndrome		 ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr 5:4,466,954...4,472,967
Ensembl chr 5:4,466,824...4,472,780 		JBrowse link
G RPL3 ribosomal protein L3 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532
G RPS19BP1 ribosomal protein S19 binding protein 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr19:22,099,664...22,104,311 JBrowse link
G SEC14L5 SEC14 like lipid binding 5 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 More... NCBI chr 5:4,630,256...4,686,271
Ensembl chr 5:4,658,703...4,690,016 		JBrowse link
G SEPTIN12 septin 12 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr 5:4,448,098...4,465,389 JBrowse link
G SGSM3 small G protein signaling modulator 3 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr19:22,943,787...22,979,899
Ensembl chr19:22,970,595...22,982,856 		JBrowse link
G SLC25A17 solute carrier family 25 member 17 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:15706485 PMID:24476420 PMID:28492532 NCBI chr19:23,323,925...23,368,368 JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chr 5:3,281,468...3,308,296 JBrowse link
G SMIM22 small integral membrane protein 22 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr 5:4,465,215...4,466,550
Ensembl chr 5:4,465,603...4,466,738 		JBrowse link
G SRL sarcalumenin ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 ClinVar PMID:12114483 PMID:15706485 PMID:17052327 PMID:17855048 PMID:18688873 More... NCBI chr 5:3,861,921...3,928,865 JBrowse link
G ST13 ST13 Hsp70 interacting protein ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:15706485 PMID:24476420 PMID:28492532 NCBI chr19:23,373,970...23,413,054
Ensembl chr19:23,375,723...23,412,742 		JBrowse link
G SYNGR1 synaptogyrin 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr19:21,924,110...21,957,453
Ensembl chr19:21,924,174...21,953,808 		JBrowse link
G TAB1 TGF-beta activated kinase 1 (MAP3K7) binding protein 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr19:21,971,362...22,004,289 JBrowse link
G TEF TEF transcription factor, PAR bZIP family member ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr19:23,910,015...23,939,935
Ensembl chr19:23,910,119...23,940,043 		JBrowse link
G TFAP4 transcription factor AP-4 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 ClinVar PMID:12114483 PMID:15706485 PMID:17052327 PMID:17855048 PMID:18688873 More... NCBI chr 5:3,931,288...3,960,039
Ensembl chr 5:3,932,149...3,954,486 		JBrowse link
G TIGD7 tigger transposable element derived 7 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chr 5:3,022,294...3,029,167 JBrowse link
G TNRC6B trinucleotide repeat containing adaptor 6B ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr19:22,823,447...22,907,942
Ensembl chr19:22,823,937...22,898,476 		JBrowse link
G TOB2 transducer of ERBB2, 2 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr19:23,975,676...23,985,701
Ensembl chr19:23,975,979...23,977,013 		JBrowse link
G TRAP1 TNF receptor associated protein 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 ClinVar PMID:12114483 PMID:15706485 PMID:17052327 PMID:17855048 PMID:18688873 More... NCBI chr 5:3,339,954...3,405,218
Ensembl chr 5:3,340,040...3,405,166 		JBrowse link
G UBALD1 UBA like domain containing 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr 5:4,295,504...4,301,647
Ensembl chr 5:4,292,771...4,301,515 		JBrowse link
G UBN1 ubinuclein 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 More... NCBI chr 5:4,518,369...4,554,687
Ensembl chr 5:4,525,081...4,552,465 		JBrowse link
G VASN vasorin ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr 5:4,052,239...4,063,884 JBrowse link
G XPNPEP3 X-prolyl aminopeptidase 3 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:15706485 PMID:24476420 PMID:28492532 NCBI chr19:23,413,111...23,473,293
Ensembl chr19:23,413,215...23,473,170 		JBrowse link
G ZC3H7B zinc finger CCCH-type containing 7B ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar PMID:28492532 NCBI chr19:23,840,088...23,902,575
Ensembl chr19:23,862,120...23,902,665 		JBrowse link
G ZNF174 zinc finger protein 174 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chr 5:3,106,901...3,114,690
Ensembl chr 5:3,106,981...3,116,524 		JBrowse link
G ZNF263 zinc finger protein 263 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chr 5:3,005,686...3,015,341
Ensembl chr 5:3,007,305...3,014,449 		JBrowse link
G ZNF500 zinc finger protein 500 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 More... NCBI chr 5:4,432,050...4,443,777
Ensembl chr 5:4,432,575...4,443,396 		JBrowse link
G ZNF597 zinc finger protein 597 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chr 5:3,137,252...3,144,217
Ensembl chr 5:3,133,193...3,144,023 		JBrowse link
G ZNF75A zinc finger protein 75a ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chr 5:3,029,147...3,042,225 JBrowse link
G ZSCAN32 zinc finger and SCAN domain containing 32 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18688873 PMID:18792986 More... NCBI chr 5:3,089,284...3,106,773
Ensembl chr 5:3,086,772...3,106,771 		JBrowse link
SATB2-associated syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GTF3C3 general transcription factor IIIC subunit 3 ISO ClinVar Annotator: match by term: Chromosome 2q32-q33 deletion syndrome ClinVar PMID:25741868 NCBI chr10:82,288,845...82,323,768
Ensembl chr10:82,287,880...82,323,716 		JBrowse link
G SATB2 SATB homeobox 2 ISO ClinVar Annotator: match by term: Chromosome 2q32-q33 deletion syndrome | ClinVar Annotator: match by term: SATB2 associated disorder | ClinVar Annotator: match by term: SATB2-associated syndrome | ClinVar Annotator: match by term: SATB2-related disorder OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17377962 PMID:17576681 PMID:21343628 More... NCBI chr10:84,761,450...84,954,339
Ensembl chr10:84,761,426...84,954,361 		JBrowse link
Smith-Magenis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASK calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: Smith-Magenis Syndrome-like ClinVar PMID:25741868 PMID:27799067 PMID:28492532 PMID:33090494 NCBI chr  X:38,704,623...39,121,309 JBrowse link
G CC2D1A coiled-coil and C2 domain containing 1A ISO ClinVar Annotator: match by term: Smith-Magenis Syndrome-like ClinVar PMID:24026677 PMID:25741868 PMID:27799067 PMID:28492532 PMID:34205586 NCBI chr 6:12,567,165...12,589,680
Ensembl chr 6:12,567,237...12,589,815 		JBrowse link
G GLDC glycine decarboxylase ISO ClinVar Annotator: match by term: Smith-Magenis Syndrome-like ClinVar PMID:25741868 PMID:27799067 PMID:28492532 NCBI chr12:72,876,992...72,990,671
Ensembl chr12:72,877,017...72,990,668 		JBrowse link
G JAKMIP1 janus kinase and microtubule interacting protein 1 ISO ClinVar Annotator: match by term: Smith-Magenis Syndrome-like ClinVar PMID:27799067 NCBI chr27:42,157,145...42,330,117
Ensembl chr27:42,167,423...42,243,485 		JBrowse link
G KDM5C lysine demethylase 5C ISO ClinVar Annotator: match by term: Smith-Magenis Syndrome-like ClinVar PMID:27799067 PMID:28492532 NCBI chr  X:49,306,472...49,356,151
Ensembl chr  X:49,321,173...49,356,100 		JBrowse link
G KMT2D lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Smith-Magenis Syndrome-like ClinVar PMID:27799067 NCBI chr11:45,260,873...45,303,898
Ensembl chr11:45,263,408...45,302,423 		JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Smith-Magenis Syndrome-like ClinVar PMID:27799067 NCBI chr 6:3,848,441...3,881,367
Ensembl chr 6:3,848,401...3,881,412 		JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Smith-Magenis Syndrome-like ClinVar PMID:10854091 PMID:11055898 PMID:11738883 PMID:12111643 PMID:12966523 More... NCBI chr  X:128,445,028...128,519,892
Ensembl chr  X:128,453,577...128,455,785 		JBrowse link
G RAI1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: RAI1-related condition | ClinVar Annotator: match by term: Smith-Magenis syndrome
ClinVar Annotator: match by term: Chromosome 17p11.2 deletion syndrome | ClinVar Annotator: match by term: Smith-Magenis syndrome		 OMIM
ClinVar		 PMID:8841119 PMID:12652298 PMID:15788730 PMID:18414213 PMID:21857958 More... NCBI chr16:16,717,767...16,847,014
Ensembl chr16:16,760,189...16,849,346 		JBrowse link
G SMS spermine synthase ISO ClinVar Annotator: match by term: Smith-Magenis syndrome ClinVar PMID:25741868 NCBI chr  X:20,418,435...20,475,227
Ensembl chr  X:20,418,494...20,476,276 		JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 ISO ClinVar Annotator: match by term: Smith-Magenis syndrome ClinVar PMID:25087610 NCBI chr16:16,847,603...16,874,239
Ensembl chr16:16,845,491...16,859,554 		JBrowse link
G TMEM127 transmembrane protein 127 ISO ClinVar Annotator: match by term: Chromosome 17p11.2 deletion syndrome ClinVar PMID:9536098 PMID:16266984 PMID:17576681 PMID:20154675 PMID:25389632 More... NCBI chr14:671,259...685,217
Ensembl chr14:673,375...685,228 		JBrowse link
G TOM1L2 target of myb1 like 2 membrane trafficking protein ISO ClinVar Annotator: match by term: Smith-Magenis syndrome ClinVar PMID:25087610 NCBI chr16:16,881,219...17,009,552
Ensembl chr16:16,881,156...17,009,492 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Smith-Magenis Syndrome-like ClinVar PMID:27799067 NCBI chr10:29,732,934...29,864,157
Ensembl chr10:29,729,305...29,864,205 		JBrowse link
Takao VCF Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TBX1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Conotruncal anomaly face syndrome ClinVar PMID:14585638 PMID:15703190 PMID:17273972 NCBI chr19:5,980,114...5,986,313
Ensembl chr19:5,980,587...5,987,244 		JBrowse link
thrombocytopenia-absent radius syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACP6 acid phosphatase 6, lysophosphatidic ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar
G ANKRD34A ankyrin repeat domain 34A ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr20:12,786,058...12,789,260
Ensembl chr20:12,786,933...12,788,423 		JBrowse link
G ANKRD35 ankyrin repeat domain 35 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr20:12,858,983...12,877,983
Ensembl chr20:12,859,767...12,877,977 		JBrowse link
G BCL9 BCL9 transcription coactivator ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar
G CD160 CD160 molecule ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr20:13,009,168...13,029,766
Ensembl chr20:13,012,460...13,020,466 		JBrowse link
G CHD1L chromodomain helicase DNA binding protein 1 like ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar
G FMO5 flavin containing dimethylaniline monoxygenase 5 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar
G GJA5 gap junction protein alpha 5 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar
G GJA8 gap junction protein alpha 8 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar
G GPR89A G protein-coupled receptor 89A ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr20:13,076,475...13,134,144 JBrowse link
G HJV hemojuvelin BMP co-receptor ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr20:12,730,106...12,735,230
Ensembl chr20:12,730,912...12,735,255 		JBrowse link
G LIX1L limb and CNS expressed 1 like ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr20:12,790,629...12,812,248
Ensembl chr20:12,790,756...12,811,931 		JBrowse link
G LOC103224063 peroxisomal membrane protein 11B ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr20:12,835,551...12,854,342
Ensembl chr20:12,827,633...12,835,517
Ensembl chr20:12,827,633...12,835,517 		JBrowse link
G LOC103247232 NBPF member 11 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar
G NUDT17 nudix hydrolase 17 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr20:12,895,185...12,898,587
Ensembl chr20:12,895,662...12,898,592 		JBrowse link
G PDZK1 PDZ domain containing 1 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr20:13,026,422...13,076,094
Ensembl chr20:13,040,475...13,079,241 		JBrowse link
G PIAS3 protein inhibitor of activated STAT 3 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr20:12,884,475...12,902,014
Ensembl chr20:12,885,205...12,902,243 		JBrowse link
G POLR3C RNA polymerase III subunit C ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr20:12,901,879...12,919,748
Ensembl chr20:12,901,898...12,919,783 		JBrowse link
G POLR3GL RNA polymerase III subunit GL ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr20:12,773,971...12,784,023 JBrowse link
G PRKAB2 protein kinase AMP-activated non-catalytic subunit beta 2 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar
G RBM8A RNA binding motif protein 8A ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome OMIM
ClinVar		 PMID:9536098 PMID:16501574 PMID:17236129 PMID:17576681 PMID:20301781 More... NCBI chr20:12,819,891...12,821,656
Ensembl chr20:12,819,956...12,821,629 		JBrowse link
G RNF115 ring finger protein 115 ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar NCBI chr20:12,919,988...13,001,736
Ensembl chr20:12,920,232...13,001,135 		JBrowse link
G TXNIP thioredoxin interacting protein ISO ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome ClinVar PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 More... NCBI chr20:12,756,145...12,759,853
Ensembl chr20:12,756,053...12,761,177 		JBrowse link
velocardiofacial syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIFM3 AIF family member 3 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr19:4,901,118...4,917,290
Ensembl chr19:4,904,050...4,918,224 		JBrowse link
G ARVCF ARVCF delta catenin family member ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr19:5,721,887...5,775,910
Ensembl chr19:5,755,146...5,775,109 		JBrowse link
G CCDC188 coiled-coil domain containing 188 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr19:5,589,399...5,592,135 JBrowse link
G CDC45 cell division cycle 45 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr19:6,232,610...6,275,743
Ensembl chr19:6,231,591...6,275,294 		JBrowse link
G CHRD chordin ISO OMIM:192430 MouseDO NCBI chr15:5,030,618...5,040,399
Ensembl chr15:5,030,457...5,039,991 		JBrowse link
G CLDN5 claudin 5 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr19:6,227,881...6,230,199
Ensembl chr19:6,228,965...6,229,621 		JBrowse link
G CLTCL1 clathrin heavy chain like 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr19:6,455,178...6,568,930
Ensembl chr19:6,455,248...6,573,058 		JBrowse link
G COMT catechol-O-methyltransferase ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr19:5,775,829...5,803,260
Ensembl chr19:5,773,225...5,785,422 		JBrowse link
G CRKL CRK like proto-oncogene, adaptor protein ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868
G CUNH22orf39 chromosome unknown C22orf39 homolog ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr19:6,307,277...6,312,609
Ensembl chr19:6,307,916...6,311,459 		JBrowse link
G DGCR2 DiGeorge syndrome critical region gene 2 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr19:6,628,092...6,710,070
Ensembl chr19:6,628,096...6,707,507 		JBrowse link
G DGCR6L DiGeorge syndrome critical region gene 6 like ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr19:2,436,534...2,441,930 JBrowse link
G DGCR8 DGCR8 microprocessor complex subunit ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr19:5,627,924...5,657,773
Ensembl chr19:5,629,684...5,652,191 		JBrowse link
G EDNRA endothelin receptor type A ISO OMIM:192430 MouseDO NCBI chr 7:93,980,983...94,043,863
Ensembl chr 7:93,985,797...94,042,296 		JBrowse link
G ESS2 ess-2 splicing factor homolog ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr19:6,604,275...6,615,316
Ensembl chr19:6,604,345...6,615,055 		JBrowse link
G GNB1L G protein subunit beta 1 like ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr19:5,889,395...5,959,515
Ensembl chr19:5,890,567...5,959,510 		JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr19:6,020,618...6,021,646 JBrowse link
G GSC2 goosecoid homeobox 2 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr19:6,598,246...6,601,230
Ensembl chr19:6,598,259...6,599,532 		JBrowse link
G HIRA histone cell cycle regulator ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr19:6,324,050...6,424,999
Ensembl chr19:6,324,253...6,425,641 		JBrowse link
G KLHL22 kelch like family member 22 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr19:5,211,732...5,264,953
Ensembl chr19:5,218,653...5,265,063 		JBrowse link
G LOC103222955 uncharacterized LOC103222955 ISO OMIM:192430 MouseDO NCBI chr19:4,855,633...4,889,674
Ensembl chr19:4,855,611...4,890,302 		JBrowse link
G LRRC74B leucine rich repeat containing 74B ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr19:4,988,262...5,005,253
Ensembl chr19:4,988,805...5,004,819 		JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr19:4,917,381...4,935,174
Ensembl chr19:4,918,360...4,933,439 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 ISO OMIM:192430 MouseDO NCBI chr19:4,246,144...4,352,648
Ensembl chr19:4,246,122...4,353,325 		JBrowse link
G MED15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr19:5,111,512...5,195,677
Ensembl chr19:5,112,435...5,167,139 		JBrowse link
G MRPL40 mitochondrial ribosomal protein L40 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr19:6,319,745...6,323,955
Ensembl chr19:6,319,263...6,323,799 		JBrowse link
G P2RX6 purinergic receptor P2X 6 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr19:4,958,713...4,969,443
Ensembl chr19:4,958,671...4,969,724 		JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr19:4,648,184...4,797,573
Ensembl chr19:4,648,183...4,797,396 		JBrowse link
G PRICKLE1 prickle planar cell polarity protein 1 ISO OMIM:192430 MouseDO NCBI chr11:38,696,771...38,819,324
Ensembl chr11:38,694,602...38,718,519 		JBrowse link
G RANBP1 RAN binding protein 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr19:5,611,968...5,622,414
Ensembl chr19:5,612,268...5,622,191 		JBrowse link
G RTL10 retrotransposon Gag like 10 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr19:5,890,989...5,895,243 JBrowse link
G RTN4R reticulon 4 receptor ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr19:5,469,854...5,497,858 JBrowse link
G SCARF2 scavenger receptor class F member 2 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr19:5,265,730...5,282,092
Ensembl chr19:5,268,630...5,282,092 		JBrowse link
G SEPTIN5 septin 5 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr19:6,022,074...6,030,880
Ensembl chr19:6,020,917...6,030,821 		JBrowse link
G SERPIND1 serpin family D member 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr19:4,709,896...4,724,620
Ensembl chr19:4,715,806...4,726,111 		JBrowse link
G SLC25A1 solute carrier family 25 member 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr19:6,569,627...6,572,872 JBrowse link
G SLC7A4 solute carrier family 7 member 4 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr19:4,970,147...4,973,603
Ensembl chr19:4,970,483...4,973,230 		JBrowse link
G SNAP29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr19:4,797,690...4,827,573
Ensembl chr19:4,797,725...4,830,251 		JBrowse link
G TANGO2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr19:5,672,758...5,717,574
Ensembl chr19:5,672,180...5,701,361 		JBrowse link
G TBX1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Shprintzen VCF syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome OMIM
ClinVar		 PMID:9536098 PMID:11748311 PMID:15355425 PMID:16684884 PMID:17273972 More... NCBI chr19:5,980,114...5,986,313
Ensembl chr19:5,980,587...5,987,244 		JBrowse link
G THAP7 THAP domain containing 7 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr19:4,935,872...4,938,181
Ensembl chr19:4,935,976...4,938,152 		JBrowse link
G TRAPPC10 trafficking protein particle complex subunit 10 ISO OMIM:192430 MouseDO NCBI chr 2:87,760,813...87,856,630
Ensembl chr 2:87,761,479...87,857,418 		JBrowse link
G TRMT2A tRNA methyltransferase 2 homolog A ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr19:5,622,542...5,627,923
Ensembl chr19:5,622,630...5,627,257 		JBrowse link
G TSSK2 testis specific serine kinase 2 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr19:6,617,030...6,618,932
Ensembl chr19:6,617,256...6,618,344 		JBrowse link
G TXNRD2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr19:5,803,178...5,868,224
Ensembl chr19:5,813,099...5,866,674 		JBrowse link
G UFD1 ubiquitin recognition factor in ER associated degradation 1 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr19:6,275,834...6,305,940
Ensembl chr19:6,275,844...6,308,035 		JBrowse link
G ZDHHC8 zDHHC palmitoyltransferase 8 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr19:5,591,311...5,607,448
Ensembl chr19:5,589,090...5,607,387 		JBrowse link
G ZNF74 zinc finger protein 74 ISO ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr19:5,302,966...5,318,084 JBrowse link
WAGR 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: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:33,419,313...33,679,046
Ensembl chr 1:33,421,038...33,678,990 		JBrowse link
G PAX6 paired box 6 ISO ClinVar Annotator: match by term: 11p partial monosomy syndrome | ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome ClinVar PMID:9727514 PMID:10234503 PMID:12634864 PMID:12868034 PMID:15086958 More... NCBI chr 1:33,386,165...33,414,605
Ensembl chr 1:33,392,970...33,414,587 		JBrowse link
G WT1 WT1 transcription factor ISO ClinVar Annotator: match by term: 11p partial monosomy syndrome | ClinVar Annotator: match by term: CHROMOSOME 11p13 DELETION SYNDROME | ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome ClinVar PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More... NCBI chr 1:32,750,300...32,801,832 JBrowse link
Williams-Beuren syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD11 abhydrolase domain containing 11 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr28:9,330,037...9,332,788
Ensembl chr28:9,329,923...9,334,816 		JBrowse link
G BAZ1B bromodomain adjacent to zinc finger domain 1B ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr28:9,533,802...9,617,164
Ensembl chr28:9,534,114...9,617,190 		JBrowse link
G BCL7B BAF chromatin remodeling complex subunit BCL7B ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr28:9,498,053...9,527,419
Ensembl chr28:9,498,161...9,526,542 		JBrowse link
G BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr28:9,368,950...9,382,951
Ensembl chr28:9,368,726...9,382,925 		JBrowse link
G CLDN3 claudin 3 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr28:9,301,312...9,303,496
Ensembl chr28:9,302,446...9,303,108 		JBrowse link
G CLDN4 claudin 4 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr28:9,242,054...9,244,972
Ensembl chr28:9,242,909...9,243,538 		JBrowse link
G CLIP2 CAP-Gly domain containing linker protein 2 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr28:8,692,837...8,792,668
Ensembl chr28:8,690,868...8,792,555 		JBrowse link
G DLG4 discs large MAGUK scaffold protein 4 ISO CTD Direct Evidence: marker/mechanism
OMIM:194050		 CTD
MouseDO		 PMID:20952458 NCBI chr16:6,562,953...6,592,247
Ensembl chr16:6,562,691...6,590,867 		JBrowse link
G DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr28:9,383,068...9,385,590
Ensembl chr28:9,383,095...9,383,775 		JBrowse link
G EIF4H eukaryotic translation initiation factor 4H ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr28:8,878,250...8,903,812
Ensembl chr28:8,879,946...8,903,828 		JBrowse link
G ELN elastin ISO ClinVar Annotator: match by term: CHROMOSOME 7q11.23 DELETION SYNDROME, 1.5- TO 1.8-MB | ClinVar Annotator: match by term: Williams syndrome | ClinVar Annotator: match by term: Williams-Beuren syndrome ClinVar PMID:10942104 PMID:25741868 PMID:28492532 PMID:31829210 NCBI chr28:8,999,164...9,048,703 JBrowse link
G FKBP6 FKBP prolyl isomerase family member 6 (inactive) ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr28:9,688,493...9,718,633 JBrowse link
G FZD3 frizzled class receptor 3 ISO maps to 2 Mb in chromosome band 7q11.23 deleted in WS RGD PMID:9147651 RGD:1582654 NCBI chr 8:26,598,544...26,668,983
Ensembl chr 8:26,598,610...26,667,543 		JBrowse link
G FZD9 frizzled class receptor 9 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr28:9,621,434...9,623,769
Ensembl chr28:9,621,770...9,623,545 		JBrowse link
G GTF2I general transcription factor IIi ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr28:8,361,187...8,463,469
Ensembl chr28:8,363,057...8,435,750 		JBrowse link
G GTF2IRD1 GTF2I repeat domain containing 1 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr28:8,512,006...8,583,110 JBrowse link
G LAT2 linker for activation of T cells family member 2 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr28:8,848,971...8,865,558
Ensembl chr28:8,848,638...8,865,574 		JBrowse link
G LIMK1 LIM domain kinase 1 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr28:8,953,095...8,988,848
Ensembl chr28:8,952,957...8,988,672 		JBrowse link
G LOX lysyl oxidase ISO OMIM:194050 MouseDO NCBI chr23:25,158,458...25,172,763
Ensembl chr23:25,157,269...25,172,757 		JBrowse link
G METTL27 methyltransferase like 27 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr28:9,234,974...9,240,296 JBrowse link
G MLXIPL MLX interacting protein like ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr28:9,442,520...9,465,772 JBrowse link
G NCF1 neutrophil cytosolic factor 1 ISO DNA:deletion RGD PMID:16532385 RGD:1624399 NCBI chr28:8,334,172...8,349,828
Ensembl chr28:8,332,772...8,349,804 		JBrowse link
G NSUN5 NOP2/Sun RNA methyltransferase 5 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr28:9,737,722...9,743,372
Ensembl chr28:9,737,777...9,743,189 		JBrowse link
G RCC1L RCC1 like ISO RGD PMID:12073013 RGD:1580600 NCBI chr28:8,215,324...8,250,560
Ensembl chr28:8,215,318...8,250,523 		JBrowse link
G RFC2 replication factor C subunit 2 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr28:8,818,606...8,846,929
Ensembl chr28:8,818,650...8,847,865 		JBrowse link
G SRC SRC proto-oncogene, non-receptor tyrosine kinase ISO OMIM:194050 MouseDO NCBI chr 2:26,344,480...26,367,448
Ensembl chr 2:26,343,450...26,367,776 		JBrowse link
G STX1A syntaxin 1A ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr28:9,347,495...9,367,948
Ensembl chr28:9,347,532...9,368,585 		JBrowse link
G TBL2 transducin beta like 2 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr28:9,478,008...9,486,834
Ensembl chr28:9,478,061...9,488,989 		JBrowse link
G TMEM270 transmembrane protein 270 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr28:9,212,358...9,217,628
Ensembl chr28:9,212,377...9,217,517 		JBrowse link
G TRIM50 tripartite motif containing 50 ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr28:9,718,668...9,734,045
Ensembl chr28:9,718,669...9,733,672 		JBrowse link
G VPS37D VPS37D subunit of ESCRT-I ISO ClinVar Annotator: match by term: Williams syndrome ClinVar PMID:25741868 NCBI chr28:9,393,163...9,398,387
Ensembl chr28:9,393,354...9,398,378 		JBrowse link
Wolf-Hirschhorn syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPLX1 complexin 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr27:47,959,109...48,002,338
Ensembl chr27:47,959,091...48,002,527 		JBrowse link
G CTBP1 C-terminal binding protein 1 ISO ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr27:47,533,490...47,570,505
Ensembl chr27:47,544,682...47,570,636 		JBrowse link
G FGFRL1 fibroblast growth factor receptor like 1 ISO ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr27:47,752,316...47,766,771
Ensembl chr27:47,750,626...47,755,929 		JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 ISO ClinVar Annotator: match by term: Mental retardation, unusual facies, and intrauterine growth retardation | ClinVar Annotator: match by term: Wolf syndrome | ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr27:46,912,882...46,954,295
Ensembl chr27:46,912,819...46,956,164 		JBrowse link
G MSX1 msh homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630905 NCBI chr27:41,028,763...41,032,676
Ensembl chr27:41,028,919...41,033,006 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Mental retardation, unusual facies, and intrauterine growth retardation | ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome ClinVar PMID:11252005 PMID:25741868 PMID:28492532 PMID:29760529 PMID:29892088 More... NCBI chr27:46,787,325...46,896,898
Ensembl chr27:46,787,154...46,867,792 		JBrowse link
G NUF2 NUF2 component of NDC80 kinetochore complex ISO ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome ClinVar NCBI chr25:65,462,608...65,493,242
Ensembl chr25:65,462,603...65,493,246 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15416
    Pathological Conditions, Signs and Symptoms 12063
      Pathologic Processes 7631
        Chromosome Aberrations 2766
          Aneuploidy 1916
            Monosomy 1656
              Chromosome 18 Mosaic Monosomy 0
              Chromosome Deletion + 1656
paths to the root