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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:Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange
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Accession:DOID:9009080 term browser browse the term
Synonyms:xref: OMIM:PS210900


show annotations for term's descendants           Sort by:
Bloom syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AAGAB alpha and gamma adaptin binding protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:165,123,006...165,193,002
Ensembl chr 1:165,127,994...165,192,924 		JBrowse link
G ABHD17C abhydrolase domain containing 17C, depalmitoylase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:49,540,698...49,599,323
Ensembl chr 7:49,540,879...49,599,319 		JBrowse link
G ABHD2 abhydrolase domain containing 2, acylglycerol lipase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:54,655,694...54,776,140
Ensembl chr 7:54,655,804...54,770,131 		JBrowse link
G ACAN aggrecan ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:54,449,830...54,520,606
Ensembl chr 7:54,449,816...54,519,194 		JBrowse link
G ACSBG1 acyl-CoA synthetase bubblegum family member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:47,705,091...47,760,797
Ensembl chr 7:47,705,121...47,762,538 		JBrowse link
G ACTC1 actin alpha cardiac muscle 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:136,281,119...136,286,551
Ensembl chr 1:136,281,167...136,286,547 		JBrowse link
G ADAL adenosine deaminase like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,089,422...128,125,691
Ensembl chr 1:128,095,940...128,120,765 		JBrowse link
G ADAM10 ADAM metallopeptidase domain 10 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:113,289,480...113,407,940
Ensembl chr 1:113,289,209...113,412,798 		JBrowse link
G ADAMTS7 ADAM metallopeptidase with thrombospondin type 1 motif 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:47,919,398...47,994,528
Ensembl chr 7:47,929,033...47,994,453 		JBrowse link
G ADAMTSL3 ADAMTS like 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:51,006,356...51,363,855
Ensembl chr 7:51,006,366...51,363,620 		JBrowse link
G ADPGK ADP dependent glucokinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:60,584,038...60,623,898
Ensembl chr 7:60,584,051...60,623,929 		JBrowse link
G AEN apoptosis enhancing nuclease ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:191,200,625...191,211,884
Ensembl chr 1:191,200,632...191,219,961 		JBrowse link
G AFG2B AFG2 AAA ATPase homolog B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,314,573...126,335,193
Ensembl chr 1:126,313,402...126,335,475 		JBrowse link
G AGBL1 AGBL carboxypeptidase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:192,725,367...193,534,530
Ensembl chr 1:192,722,847...193,534,417 		JBrowse link
G AKAP13 A-kinase anchoring protein 13 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:87,889,384...88,222,854 JBrowse link
G ALDH1A2 aldehyde dehydrogenase 1 family member A2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:113,932,722...114,037,059
Ensembl chr 1:113,932,739...114,037,046 		JBrowse link
G ALPK3 alpha kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:52,667,342...52,718,775
Ensembl chr 7:52,667,362...52,718,757 		JBrowse link
G ANKDD1A ankyrin repeat and death domain containing 1A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:107,095,472...107,185,484
Ensembl chr 1:107,094,123...107,135,517 		JBrowse link
G ANKRD34C ankyrin repeat domain 34C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:48,404,846...48,421,101
Ensembl chr 7:48,405,156...48,421,098 		JBrowse link
G ANKRD63 ankyrin repeat domain 63 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:131,032,619...131,040,348
Ensembl chr 1:131,034,252...131,035,406 		JBrowse link
G ANP32A acidic nuclear phosphoprotein 32 family member A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:166,664,251...166,703,814 JBrowse link
G ANPEP alanyl aminopeptidase, membrane ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:55,351,081...55,373,856
Ensembl chr 7:55,351,087...55,373,881 		JBrowse link
G ANXA2 annexin A2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:111,588,721...111,635,064
Ensembl chr 1:111,588,306...111,635,059 		JBrowse link
G AP3B2 adaptor related protein complex 3 subunit beta 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:52,202,649...52,294,154
Ensembl chr 7:52,256,159...52,294,149 		JBrowse link
G AP3S2 adaptor-related protein complex 3, sigma 2 subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:55,395,159...55,462,352
Ensembl chr 7:55,391,913...55,469,858 		JBrowse link
G AP4E1 adaptor related protein complex 4 subunit epsilon 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:120,880,460...120,946,045
Ensembl chr 1:120,880,456...120,946,031 		JBrowse link
G APH1B aph-1 homolog B, gamma-secretase subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:108,549,297...108,763,279
Ensembl chr 1:108,730,298...108,763,401 		JBrowse link
G AQP9 aquaporin 9 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:113,798,380...113,848,452
Ensembl chr 1:113,794,040...113,848,683 		JBrowse link
G AQR aquarius intron-binding spliceosomal factor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:136,135,854...136,235,538
Ensembl chr 1:136,121,111...136,233,825 		JBrowse link
G ARID3B AT-rich interaction domain 3B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,932,450...58,998,707
Ensembl chr 7:58,932,461...58,998,711 		JBrowse link
G ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:60,707,483...60,824,117
Ensembl chr 7:60,710,051...60,824,101 		JBrowse link
G ARNT2 aryl hydrocarbon receptor nuclear translocator 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:49,259,118...49,450,471
Ensembl chr 7:49,259,651...49,450,461 		JBrowse link
G ARPIN actin related protein 2/3 complex inhibitor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:55,469,015...55,483,632
Ensembl chr 7:55,468,568...55,483,536 		JBrowse link
G ARPP19 cAMP regulated phosphoprotein 19 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:119,134,318...119,157,169
Ensembl chr 1:119,134,851...119,157,352 		JBrowse link
G ATOSA atos homolog A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:118,993,862...119,124,472
Ensembl chr 1:119,020,990...119,124,464 		JBrowse link
G ATP8B4 ATPase phospholipid transporting 8B4 (putative) ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:121,629,072...121,914,633
Ensembl chr 1:121,650,951...121,914,712 		JBrowse link
G AVEN apoptosis and caspase activation inhibitor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:80,447,337...80,640,120
Ensembl chr 7:80,447,524...80,640,119 		JBrowse link
G B2M beta-2-microglobulin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,837,721...126,844,043
Ensembl chr 1:126,835,143...126,981,582 		JBrowse link
G BAHD1 bromo adjacent homology domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,849,835...130,874,735
Ensembl chr 1:130,849,842...130,875,974 		JBrowse link
G BBS4 Bardet-Biedl syndrome 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:60,631,913...60,693,359
Ensembl chr 7:60,631,914...60,693,334 		JBrowse link
G BCL2A1 BCL2 related protein A1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:48,887,227...48,897,667
Ensembl chr 7:48,887,094...48,897,870 		JBrowse link
G BCL2L10 BCL2 like 10 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:119,594,004...119,607,709 JBrowse link
G BLM BLM RecQ like helicase ISO ClinVar Annotator: match by term: Bloom syndrome | ClinVar Annotator: match by term: Bloom-Torre-Machacek syndrome OMIM
ClinVar		 PMID:2678854 PMID:7585968 PMID:7799980 PMID:9285778 PMID:9388480 More... NCBI chr 7:53,317,515...53,412,649
Ensembl chr 7:53,317,540...53,412,645 		JBrowse link
G BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,168,944...126,184,813
Ensembl chr 1:126,165,994...126,184,858 		JBrowse link
G BMF Bcl2 modifying factor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:131,178,021...131,199,668
Ensembl chr 1:131,178,315...131,200,393 		JBrowse link
G BNC1 basonuclin zinc finger protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:51,651,179...51,679,781
Ensembl chr 7:51,652,542...51,679,775 		JBrowse link
G BNIP2 BCL2 interacting protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:112,272,883...112,370,404
Ensembl chr 1:112,344,228...112,370,404 		JBrowse link
G BTBD1 BTB domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:51,877,446...51,925,886
Ensembl chr 7:51,877,354...51,924,869 		JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:131,093,026...131,143,840
Ensembl chr 1:131,092,958...131,143,794 		JBrowse link
G C1H15orf48 chromosome 1 C15orf48 homolog ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,304,461...126,307,951
Ensembl chr 1:126,304,474...126,310,749 		JBrowse link
G C1H15orf61 chromosome 1 C15orf61 homolog ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:165,436,810...165,441,736
Ensembl chr 1:165,436,814...165,441,736 		JBrowse link
G C2CD4B C2 calcium dependent domain containing 4B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:109,824,467...109,827,631 JBrowse link
G C7H15orf39 chromosome 7 C15orf39 homolog ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,380,602...58,390,117
Ensembl chr 7:58,381,034...58,386,366 		JBrowse link
G C7H15orf40 chromosome 7 C15orf40 homolog ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:51,929,349...51,935,724
Ensembl chr 7:51,929,373...51,935,723 		JBrowse link
G CA12 carbonic anhydrase 12 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:108,649,277...108,710,658
Ensembl chr 1:108,649,271...108,710,651 		JBrowse link
G CALML4 calmodulin like 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:166,089,583...166,099,794
Ensembl chr 1:166,083,629...166,099,593 		JBrowse link
G CAPN3 calpain 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,960,117...129,013,508
Ensembl chr 1:128,960,118...129,013,546 		JBrowse link
G CATSPER2 cation channel sperm associated 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:127,814,349...127,831,023
Ensembl chr 1:127,814,376...127,829,109 		JBrowse link
G CCDC32 coiled-coil domain containing 32 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,753,107...130,764,747
Ensembl chr 1:130,753,186...130,764,746 		JBrowse link
G CCDC33 coiled-coil domain containing 33 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:59,188,624...59,224,071
Ensembl chr 7:59,190,179...59,290,877 		JBrowse link
G CCDC9B coiled-coil domain containing 9B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,974,635...130,983,973
Ensembl chr 1:130,975,347...130,983,969 		JBrowse link
G CCNB2 cyclin B2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:112,907,047...112,942,218
Ensembl chr 1:112,907,047...112,942,235 		JBrowse link
G CCNDBP1 cyclin D1 binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,253,111...128,269,534
Ensembl chr 1:128,253,035...128,269,452 		JBrowse link
G CCPG1 cell cycle progression 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:116,447,171...116,492,917
Ensembl chr 1:116,449,079...116,492,907 		JBrowse link
G CD276 CD276 molecule ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:59,703,283...59,733,910
Ensembl chr 7:59,703,289...59,733,777 		JBrowse link
G CDAN1 codanin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,641,411...128,655,556
Ensembl chr 1:128,641,430...128,655,554 		JBrowse link
G CDIN1 CDAN1 interacting nuclease 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:134,301,076...134,538,874
Ensembl chr 1:134,301,103...134,538,461 		JBrowse link
G CELF6 CUGBP Elav-like family member 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:60,931,100...60,960,929
Ensembl chr 7:60,930,982...60,960,119 		JBrowse link
G CEMIP cell migration inducing hyaluronidase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:49,622,534...49,792,547
Ensembl chr 7:49,622,539...49,792,543 		JBrowse link
G CEP152 centrosomal protein 152 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:122,876,146...122,979,851
Ensembl chr 1:122,876,141...122,979,845 		JBrowse link
G CFAP161 cilia and flagella associated protein 161 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:49,912,450...49,940,708
Ensembl chr 7:49,927,305...49,940,707 		JBrowse link
G CGNL1 cingulin like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:114,424,148...114,628,331
Ensembl chr 1:114,424,151...114,598,823 		JBrowse link
G CHAC1 ChaC glutathione specific gamma-glutamylcyclotransferase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,360,510...130,363,332
Ensembl chr 1:130,360,514...130,363,308 		JBrowse link
G CHP1 calcineurin like EF-hand protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,073,919...130,112,461
Ensembl chr 1:130,073,928...130,112,751 		JBrowse link
G CHRM5 cholinergic receptor muscarinic 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:80,423,768...80,429,187
Ensembl chr 7:80,427,360...80,428,963 		JBrowse link
G CHRNA3 cholinergic receptor nicotinic alpha 3 subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:47,361,710...47,382,743
Ensembl chr 7:47,361,899...47,384,303 		JBrowse link
G CHRNA5 cholinergic receptor nicotinic alpha 5 subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:47,382,860...47,425,871
Ensembl chr 7:47,383,792...47,425,841 		JBrowse link
G CHRNB4 cholinergic receptor nicotinic beta 4 subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:47,338,819...47,359,064 JBrowse link
G CHST14 carbohydrate sulfotransferase 14 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,845,103...130,847,203
Ensembl chr 1:130,845,835...130,846,965 		JBrowse link
G CIAO2A cytosolic iron-sulfur assembly component 2A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:107,951,618...107,969,306
Ensembl chr 1:107,951,646...107,969,298 		JBrowse link
G CIB1 calcium and integrin binding 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:55,794,834...55,798,666
Ensembl chr 7:55,794,836...55,798,590 		JBrowse link
G CIB2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:47,807,806...47,813,400
Ensembl chr 7:47,788,646...47,813,399 		JBrowse link
G CILP cartilage intermediate layer protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,236,864...163,271,222
Ensembl chr 1:163,237,100...163,256,533 		JBrowse link
G CIMAP1C ciliary microtubule associated protein 1C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:57,935,284...57,939,020
Ensembl chr 7:57,935,610...57,938,958 		JBrowse link
G CKMT1A creatine kinase, mitochondrial 1A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:127,852,533...127,859,066 JBrowse link
G CLK3 CDC like kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,895,407...58,909,616
Ensembl chr 7:58,895,419...58,909,551 		JBrowse link
G CLN6 CLN6 transmembrane ER protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:166,107,895...166,126,054
Ensembl chr 1:166,107,228...166,126,808 		JBrowse link
G CLPX caseinolytic mitochondrial matrix peptidase chaperone subunit X ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,173,887...163,222,067
Ensembl chr 1:163,173,891...163,222,031 		JBrowse link
G COMMD4 COMM domain containing 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,276,954...58,283,128
Ensembl chr 7:58,276,957...58,283,114 		JBrowse link
G COPS2 COP9 signalosome subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:122,542,324...122,574,462
Ensembl chr 1:122,542,387...122,578,858 		JBrowse link
G CORO2B coronin 2B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:166,465,870...166,608,840
Ensembl chr 1:166,465,953...166,608,363 		JBrowse link
G COX5A cytochrome c oxidase subunit 5A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,622,969...58,644,024
Ensembl chr 7:58,622,964...58,644,021 		JBrowse link
G CPEB1 cytoplasmic polyadenylation element binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:52,329,054...52,382,408
Ensembl chr 7:52,304,472...52,383,732 		JBrowse link
G CPLX3 complexin 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,712,743...58,717,028
Ensembl chr 7:58,712,744...58,716,997 		JBrowse link
G CRABP1 cellular retinoic acid binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:47,602,316...47,608,865
Ensembl chr 7:47,602,192...47,608,970 		JBrowse link
G CRTC3 CREB regulated transcription coactivator 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:53,146,317...53,255,985
Ensembl chr 7:53,146,404...53,255,977 		JBrowse link
G CSK C-terminal Src kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,736,473...58,755,034
Ensembl chr 7:58,736,531...58,755,260 		JBrowse link
G CSNK1G1 casein kinase 1 gamma 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:107,690,049...107,884,054
Ensembl chr 1:107,690,065...107,884,045 		JBrowse link
G CSPG4 chondroitin sulfate proteoglycan 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:57,949,182...57,988,602
Ensembl chr 7:57,949,455...57,988,335 		JBrowse link
G CTDSPL2 CTD small phosphatase like 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:127,029,445...127,125,747
Ensembl chr 1:127,028,887...127,125,392 		JBrowse link
G CTSH cathepsin H ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:48,084,882...48,106,072
Ensembl chr 7:48,083,572...48,106,072 		JBrowse link
G CTXN2 cortexin 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:123,570,291...123,582,883
Ensembl chr 1:123,574,703...123,582,998 		JBrowse link
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:59,172,829...59,188,479
Ensembl chr 7:59,175,758...59,188,478 		JBrowse link
G CYP19A3 cytochrome P450 19A3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:120,476,890...120,556,103
Ensembl chr 1:120,367,667...120,695,899 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775 		JBrowse link
G CYP1A2 cytochrome P450 family 1 subfamily A member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,779,529...58,786,155
Ensembl chr 7:58,779,475...58,786,100 		JBrowse link
G DAPK2 death associated protein kinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:107,997,274...108,131,723
Ensembl chr 1:107,997,293...108,132,781 		JBrowse link
G DENND4A DENN domain containing 4A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,661,448...163,790,264
Ensembl chr 1:163,660,244...163,790,334 		JBrowse link
G DET1 DET1 partner of COP1 E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:191,263,449...191,284,973
Ensembl chr 1:191,263,448...191,284,967 		JBrowse link
G DIS3L DIS3 like exosome 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:164,310,120...164,352,182
Ensembl chr 1:164,310,448...164,353,537 		JBrowse link
G DISP2 dispatched RND transporter family member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,931,909...130,962,780
Ensembl chr 1:130,937,400...130,952,046 		JBrowse link
G DLL4 delta like canonical Notch ligand 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,376,720...130,386,411
Ensembl chr 1:130,376,721...130,386,411 		JBrowse link
G DMXL2 Dmx like 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:120,138,249...120,298,603
Ensembl chr 1:120,138,336...120,298,586 		JBrowse link
G DNAAF4 dynein axonemal assembly factor 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:116,331,217...116,431,673
Ensembl chr 1:116,332,630...116,430,984 		JBrowse link
G DNAJA4 DnaJ heat shock protein family (Hsp40) member A4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:47,660,361...47,674,890
Ensembl chr 7:47,656,541...47,675,582 		JBrowse link
G DNAJC17 DnaJ heat shock protein family (Hsp40) member C17 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,516,725...130,559,233
Ensembl chr 1:130,516,779...130,559,234 		JBrowse link
G DPH6 diphthamine biosynthesis 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:135,577,558...136,022,910
Ensembl chr 1:135,577,936...135,751,890 		JBrowse link
G DPP8 dipeptidyl peptidase 8 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,446,890...163,517,434
Ensembl chr 1:163,446,899...163,517,413 		JBrowse link
G DTWD1 DTW domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:122,121,332...122,139,322
Ensembl chr 1:122,118,951...122,139,272 		JBrowse link
G DUOX1 dual oxidase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,572,533...126,603,084
Ensembl chr 1:126,572,492...126,603,082 		JBrowse link
G DUOX2 dual oxidase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,620,468...126,641,406
Ensembl chr 1:126,620,510...126,641,406 		JBrowse link
G DUOXA1 dual oxidase maturation factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,605,142...126,615,736
Ensembl chr 1:126,605,142...126,615,719 		JBrowse link
G DUOXA2 dual oxidase maturation factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,616,631...126,620,359
Ensembl chr 1:126,613,201...126,623,388 		JBrowse link
G DUT deoxyuridine triphosphatase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:123,451,207...123,462,267
Ensembl chr 1:123,450,858...123,462,245 		JBrowse link
G EDC3 enhancer of mRNA decapping 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,828,693...58,895,475
Ensembl chr 7:58,828,727...58,897,919 		JBrowse link
G EFL1 elongation factor like GTPase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:50,839,725...50,977,024
Ensembl chr 7:50,839,725...50,977,024 		JBrowse link
G EHD4 EH domain containing 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,374,515...129,460,206
Ensembl chr 1:129,374,613...129,458,686 		JBrowse link
G EID1 EP300 interacting inhibitor of differentiation 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:122,810,484...122,812,481
Ensembl chr 1:122,811,556...122,812,131 		JBrowse link
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:131,244,818...131,355,240
Ensembl chr 1:131,245,466...131,355,226 		JBrowse link
G EIF3J eukaryotic translation initiation factor 3 subunit J ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,998,613...127,019,264
Ensembl chr 1:126,997,227...127,019,147 		JBrowse link
G ELL3 elongation factor for RNA polymerase II 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:127,781,357...127,784,803
Ensembl chr 1:127,781,403...127,784,843 		JBrowse link
G EMC4 ER membrane protein complex subunit 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:80,266,001...80,270,691
Ensembl chr 7:80,265,446...80,270,691 		JBrowse link
G EMC7 ER membrane protein complex subunit 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:80,391,198...80,408,340
Ensembl chr 7:80,391,189...80,446,528 		JBrowse link
G EPB42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,231,863...128,253,696
Ensembl chr 1:128,231,997...128,253,031 		JBrowse link
G ETFA electron transfer flavoprotein subunit alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:56,450,508...56,540,275
Ensembl chr 7:56,450,520...56,540,253 		JBrowse link
G EXD1 exonuclease 3'-5' domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,112,461...130,153,485
Ensembl chr 1:130,112,847...130,153,478 		JBrowse link
G FAH fumarylacetoacetate hydrolase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:49,047,833...49,087,790
Ensembl chr 7:49,047,902...49,087,783 		JBrowse link
G FAM219B family with sequence similarity 219 member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,650,165...58,656,233
Ensembl chr 7:58,650,754...58,659,479 		JBrowse link
G FAM227B family with sequence similarity 227 member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:122,139,343...122,373,488
Ensembl chr 1:122,149,486...122,373,470 		JBrowse link
G FAM81A family with sequence similarity 81 member A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:112,548,260...112,677,675
Ensembl chr 1:112,548,265...112,620,769 		JBrowse link
G FAM98B family with sequence similarity 98 member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:132,786,198...132,819,291
Ensembl chr 1:132,789,275...132,819,489 		JBrowse link
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:54,811,024...54,889,992
Ensembl chr 7:54,811,027...54,889,998 		JBrowse link
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649 		JBrowse link
G FBXL22 F-box and leucine rich repeat protein 22 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:108,408,227...108,411,937
Ensembl chr 1:108,408,995...108,411,768 		JBrowse link
G FBXO22 F-box protein 22 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:56,146,874...56,189,921
Ensembl chr 7:56,146,880...56,186,317 		JBrowse link
G FEM1B fem-1 homolog B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:166,161,548...166,178,086
Ensembl chr 1:166,162,883...166,175,937 		JBrowse link
G FES FES proto-oncogene, tyrosine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:53,472,947...53,485,084
Ensembl chr 7:53,472,947...53,485,082 		JBrowse link
G FGF7 fibroblast growth factor 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:122,215,878...122,278,705
Ensembl chr 1:122,215,882...122,277,750 		JBrowse link
G FOXB1 forkhead box B1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:111,997,638...112,000,550
Ensembl chr 1:111,997,642...112,000,550 		JBrowse link
G FRMD5 FERM domain containing 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:127,317,660...127,653,112
Ensembl chr 1:127,317,701...127,650,665 		JBrowse link
G FSD2 fibronectin type III and SPRY domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:52,144,469...52,194,142
Ensembl chr 7:52,144,506...52,194,133 		JBrowse link
G FSIP1 fibrous sheath interacting protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:131,510,460...131,719,407
Ensembl chr 1:131,510,455...131,719,254 		JBrowse link
G FURIN furin, paired basic amino acid cleaving enzyme ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:53,455,634...53,472,791
Ensembl chr 7:53,460,017...53,472,787 		JBrowse link
G GABPB1 GA binding protein transcription factor subunit beta 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:121,410,276...121,488,165
Ensembl chr 1:121,413,506...121,489,806 		JBrowse link
G GALK2 galactokinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:122,370,616...122,542,287
Ensembl chr 1:122,369,545...122,542,222 		JBrowse link
G GANC glucosidase alpha, neutral C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,021,114...129,098,313
Ensembl chr 1:129,021,115...129,098,269 		JBrowse link
G GATM glycine amidinotransferase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,361,968...126,378,705
Ensembl chr 1:126,361,945...126,380,871 		JBrowse link
G GCHFR GTP cyclohydrolase I feedback regulator ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,559,223...130,563,598
Ensembl chr 1:130,554,978...130,559,597 		JBrowse link
G GCNT3 glucosaminyl (N-acetyl) transferase 3, mucin type ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:112,424,212...112,540,984
Ensembl chr 1:112,422,879...112,540,983 		JBrowse link
G GDPGP1 GDP-D-glucose phosphorylase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:55,798,692...55,808,445
Ensembl chr 7:55,806,636...55,807,790 		JBrowse link
G GJD2 gap junction protein delta 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:136,310,759...136,328,060
Ensembl chr 1:136,324,192...136,327,347 		JBrowse link
G GLCE glucuronic acid epimerase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:167,007,930...167,122,196
Ensembl chr 1:167,007,939...167,122,186 		JBrowse link
G GLDN gliomedin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:120,322,417...120,399,059
Ensembl chr 1:120,322,432...120,399,041 		JBrowse link
G GNB5 G protein subunit beta 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:119,545,382...119,589,860
Ensembl chr 1:119,537,551...119,589,865 		JBrowse link
G GOLM2 golgi membrane protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:127,132,387...127,238,488
Ensembl chr 1:127,131,105...127,238,601 		JBrowse link
G GPR176 G protein-coupled receptor 176 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:131,355,332...131,494,967
Ensembl chr 1:131,365,180...131,494,959 		JBrowse link
G GREM1 gremlin 1, DAN family BMP antagonist ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:136,617,041...136,629,293
Ensembl chr 1:136,617,105...136,629,292 		JBrowse link
G GTF2A2 general transcription factor IIA subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:112,371,276...112,399,541
Ensembl chr 1:112,390,594...112,402,265 		JBrowse link
G HACD3 3-hydroxyacyl-CoA dehydratase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,525,872...163,567,649
Ensembl chr 1:163,525,965...163,588,798 		JBrowse link
G HAPLN3 hyaluronan and proteoglycan link protein 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:54,519,790...54,537,429
Ensembl chr 7:54,519,800...54,537,434 		JBrowse link
G HAUS2 HAUS augmin like complex subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,820,551...128,839,027
Ensembl chr 1:128,819,957...128,839,134 		JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:60,010,396...60,052,258
Ensembl chr 7:60,010,283...60,050,689 		JBrowse link
G HDC histidine decarboxylase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:121,505,677...121,525,416
Ensembl chr 1:121,505,751...121,525,252 		JBrowse link
G HDDC3 HD domain containing 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:53,525,984...53,527,913
Ensembl chr 7:53,525,989...53,528,004 		JBrowse link
G HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:108,206,172...108,404,149
Ensembl chr 1:108,205,580...108,403,862 		JBrowse link
G HEXA hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:60,878,531...60,911,537
Ensembl chr 7:60,878,284...60,913,339 		JBrowse link
G HMG20A high mobility group 20A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:57,504,048...57,570,035
Ensembl chr 7:57,504,465...57,570,023 		JBrowse link
G HOMER2 homer scaffold protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:52,001,253...52,104,426
Ensembl chr 7:52,001,579...52,096,828 		JBrowse link
G HYKK hydroxylysine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:47,451,822...47,474,778
Ensembl chr 7:47,449,036...47,474,648 		JBrowse link
G ICE2 interactor of little elongation complex ELL subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:111,489,759...111,560,751
Ensembl chr 1:111,489,772...111,561,911 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:55,654,298...55,675,571
Ensembl chr 7:55,651,609...55,675,554 		JBrowse link
G IDH3A isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:47,759,436...47,778,948
Ensembl chr 7:47,759,439...47,778,956 		JBrowse link
G IGDCC3 immunoglobulin superfamily DCC subclass member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,347,331...163,392,164
Ensembl chr 1:163,348,819...163,391,869 		JBrowse link
G IGDCC4 immunoglobulin superfamily DCC subclass member 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,396,224...163,435,902
Ensembl chr 1:163,396,234...163,436,063 		JBrowse link
G IL16 interleukin 16 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:49,973,937...50,102,346
Ensembl chr 7:49,973,938...50,102,346 		JBrowse link
G IMP3 IMP U3 small nucleolar ribonucleoprotein 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,023,368...58,024,496
Ensembl chr 7:58,023,368...58,024,496 		JBrowse link
G INO80 INO80 complex ATPase subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,201,705...130,341,627
Ensembl chr 1:130,201,718...130,342,838 		JBrowse link
G INSYN1 inhibitory synaptic factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:59,663,878...59,680,847
Ensembl chr 7:59,665,735...59,677,104 		JBrowse link
G INTS14 integrator complex subunit 14 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,565,826...163,603,185
Ensembl chr 1:163,567,777...163,603,184 		JBrowse link
G IQCH IQ motif containing H ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:165,193,090...165,419,528
Ensembl chr 1:165,193,111...165,431,058 		JBrowse link
G IREB2 iron responsive element binding protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:47,481,539...47,529,199
Ensembl chr 7:47,478,706...47,529,242 		JBrowse link
G ISG20 interferon stimulated exonuclease gene 20 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:191,155,853...191,195,601
Ensembl chr 1:191,183,599...191,195,475 		JBrowse link
G ISL2 ISL LIM homeobox 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:56,571,352...56,579,828
Ensembl chr 7:56,571,419...56,577,253 		JBrowse link
G ISLR immunoglobulin superfamily containing leucine rich repeat ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:59,349,674...59,352,936
Ensembl chr 7:59,349,675...59,352,839 		JBrowse link
G ISLR2 immunoglobulin superfamily containing leucine rich repeat 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:59,385,021...59,393,185
Ensembl chr 7:59,386,241...59,388,481 		JBrowse link
G ITGA11 integrin subunit alpha 11 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:166,186,601...166,311,046
Ensembl chr 1:166,186,613...166,310,800 		JBrowse link
G ITPKA inositol-trisphosphate 3-kinase A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,867,261...129,877,762
Ensembl chr 1:129,867,642...129,875,639 		JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,916,956...130,930,172
Ensembl chr 1:130,916,146...130,930,078 		JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,896,488...130,910,582
Ensembl chr 1:130,893,984...130,910,586 		JBrowse link
G JMJD7 jumonji domain containing 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,525,369...129,533,286
Ensembl chr 1:129,525,572...129,533,305 		JBrowse link
G KATNBL1 katanin regulatory subunit B1 like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:80,287,989...80,383,036
Ensembl chr 7:80,288,066...80,383,037 		JBrowse link
G KBTBD13 kelch repeat and BTB domain containing 13 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,113,280...163,116,889
Ensembl chr 1:163,113,324...163,116,887 		JBrowse link
G KIF23 kinesin family member 23 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:167,239,973...167,281,250
Ensembl chr 1:167,239,997...167,281,245 		JBrowse link
G KIF7 kinesin family member 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:55,200,591...55,220,237
Ensembl chr 7:55,200,594...55,220,240 		JBrowse link
G KLHL25 kelch like family member 25 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:88,249,009...88,291,958
Ensembl chr 7:88,262,385...88,264,691 		JBrowse link
G KNL1 kinetochore scaffold 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,652,493...130,728,989 JBrowse link
G LACTB lactamase beta ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:108,909,690...108,924,509
Ensembl chr 1:108,909,693...108,924,511 		JBrowse link
G LARP6 La ribonucleoprotein 6, translational regulator ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:168,508,472...168,530,439
Ensembl chr 1:168,507,976...168,530,239 		JBrowse link
G LCMT2 leucine carboxyl methyltransferase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,125,674...128,131,064 JBrowse link
G LCTL lactase like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:164,526,477...164,540,177
Ensembl chr 1:164,526,502...164,540,118 		JBrowse link
G LEO1 LEO1 homolog, Paf1/RNA polymerase II complex component ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:119,804,992...119,842,343
Ensembl chr 1:119,805,006...119,859,434 		JBrowse link
G LINGO1 leucine rich repeat and Ig domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:57,684,591...57,890,121
Ensembl chr 7:57,684,589...57,890,126 		JBrowse link
G LIPC lipase C, hepatic type ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:113,433,684...113,604,139
Ensembl chr 1:113,433,687...113,583,963 		JBrowse link
G LMAN1L lectin, mannose binding 1 like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,717,159...58,730,752
Ensembl chr 7:58,717,821...58,730,172 		JBrowse link
G LOC100152206 C2 calcium-dependent domain-containing protein 4A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:109,920,142...109,927,760 JBrowse link
G LOC100627175 GRAM domain containing 2-like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:169,638,097...169,664,774 JBrowse link
G LOC102167410 5-formyltetrahydrofolate cyclo-ligase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:48,717,518...48,873,492
Ensembl chr 7:48,717,851...48,873,455 		JBrowse link
G LOXL1 lysyl oxidase like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:59,481,410...59,505,161
Ensembl chr 7:59,481,412...59,505,149 		JBrowse link
G LPCAT4 lysophosphatidylcholine acyltransferase 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:80,140,969...80,155,040
Ensembl chr 7:80,141,203...80,149,077 		JBrowse link
G LRRC49 leucine rich repeat containing 49 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:168,553,361...168,711,739
Ensembl chr 1:168,544,421...168,700,891 		JBrowse link
G LRRC57 leucine rich repeat containing 57 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,839,137...128,845,749
Ensembl chr 1:128,839,204...128,847,431 		JBrowse link
G LTK leukocyte receptor tyrosine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,863,837...129,867,254 JBrowse link
G LYSMD2 LysM domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:120,009,417...120,043,146
Ensembl chr 1:120,026,532...120,043,127 		JBrowse link
G MAN2A2 mannosidase alpha class 2A member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:53,498,917...53,519,512
Ensembl chr 7:53,498,966...53,519,688 		JBrowse link
G MAN2C1 mannosidase alpha class 2C member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,247,264...58,261,204
Ensembl chr 7:58,248,384...58,261,203 		JBrowse link
G MAP1A microtubule associated protein 1A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:127,916,639...127,936,952
Ensembl chr 1:127,916,644...127,936,955 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:164,381,892...164,469,313
Ensembl chr 1:164,381,845...164,471,226 		JBrowse link
G MAP2K5 mitogen-activated protein kinase kinase 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:165,458,263...165,733,452
Ensembl chr 1:165,458,258...165,740,297 		JBrowse link
G MAPK6 mitogen-activated protein kinase 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:119,725,026...119,770,988
Ensembl chr 1:119,725,029...119,771,312 		JBrowse link
G MAPKBP1 mitogen-activated protein kinase binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,533,535...129,589,084
Ensembl chr 1:129,533,539...129,588,095 		JBrowse link
G MEGF11 multiple EGF like domains 11 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,894,929...164,275,439
Ensembl chr 1:163,894,312...164,275,442 		JBrowse link
G MEIS2 Meis homeobox 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:134,013,642...134,223,013
Ensembl chr 1:134,013,820...134,223,012 		JBrowse link
G MESD mesoderm development LRP chaperone ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:49,807,309...49,817,725
Ensembl chr 7:49,807,125...49,817,658 		JBrowse link
G MESP1 mesoderm posterior bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:55,322,016...55,327,600
Ensembl chr 7:55,322,274...55,323,539 		JBrowse link
G MESP2 mesoderm posterior bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:55,341,941...55,345,824
Ensembl chr 7:55,342,935...55,345,879 		JBrowse link
G MEX3B mex-3 RNA binding family member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:50,747,828...50,753,119
Ensembl chr 7:50,747,841...50,751,777 		JBrowse link
G MFAP1 microfibril associated protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:127,741,407...127,756,168
Ensembl chr 1:127,741,455...127,756,205 		JBrowse link
G MFGE8 milk fat globule EGF and factor V/VIII domain containing ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:54,539,970...54,554,885
Ensembl chr 7:54,539,970...54,571,747 		JBrowse link
G MGA MAX dimerization protein MGA ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,590,645...129,697,434
Ensembl chr 1:129,594,795...129,697,408 		JBrowse link
G MINAR1 membrane integral NOTCH2 associated receptor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:48,501,067...48,539,300
Ensembl chr 7:48,501,078...48,539,300 		JBrowse link
G MINDY2 MINDY lysine 48 deubiquitinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:113,171,047...113,258,761
Ensembl chr 1:113,176,223...113,258,648 		JBrowse link
G MIR1839 microRNA mir-1839 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:52,196,776...52,196,855
Ensembl chr 7:52,196,776...52,196,855 		JBrowse link
G MIR184 microRNA mir-184 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:48,345,017...48,345,099
Ensembl chr 7:48,345,017...48,345,099 		JBrowse link
G MIR9-3 microRNA mir-9-3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:54,948,452...54,948,532
Ensembl chr 7:54,948,447...54,948,536 		JBrowse link
G MNS1 meiosis specific nuclear structural 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:115,471,904...115,526,344
Ensembl chr 1:115,471,922...115,553,524 		JBrowse link
G MORF4L1 mortality factor 4 like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:48,050,050...48,075,799
Ensembl chr 7:48,050,045...48,075,795 		JBrowse link
G MPI mannose phosphate isomerase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,657,960...58,666,803
Ensembl chr 7:58,657,662...58,666,929 		JBrowse link
G MRPL46 mitochondrial ribosomal protein L46 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:191,321,990...191,331,320
Ensembl chr 1:191,321,999...191,331,319 		JBrowse link
G MRPS11 mitochondrial ribosomal protein S11 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:191,310,547...191,321,951
Ensembl chr 1:191,309,198...191,321,648 		JBrowse link
G MTFMT mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:106,970,620...107,001,563
Ensembl chr 1:106,970,640...107,001,564 		JBrowse link
G MYEF2 myelin expression factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:123,582,836...123,642,879
Ensembl chr 1:123,600,908...123,638,236 		JBrowse link
G MYO1E myosin IE ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:112,677,545...112,902,005
Ensembl chr 1:112,677,821...112,901,993 		JBrowse link
G MYO5A myosin VA ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:119,165,751...119,398,591
Ensembl chr 1:119,165,942...119,394,725 		JBrowse link
G MYO5C myosin VC ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:119,407,298...119,536,443
Ensembl chr 1:119,407,351...119,536,419 		JBrowse link
G MYO9A myosin IXA ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:169,370,028...169,596,771
Ensembl chr 1:169,374,311...169,596,412 		JBrowse link
G MYZAP myocardial zonula adherens protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:114,287,622...114,386,418
Ensembl chr 1:114,287,627...114,386,427 		JBrowse link
G NDUFAF1 NADH:ubiquinone oxidoreductase complex assembly factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,968,480...129,993,534
Ensembl chr 1:129,968,502...130,009,391 		JBrowse link
G NEDD4 NEDD4 E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:115,941,945...116,069,884
Ensembl chr 1:115,941,940...116,070,305 		JBrowse link
G NEIL1 nei like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,261,761...58,269,001
Ensembl chr 7:58,261,769...58,268,522 		JBrowse link
G NEO1 neogenin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:60,064,984...60,299,892
Ensembl chr 7:60,064,994...60,300,562 		JBrowse link
G NGRN neugrin, neurite outgrowth associated ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:55,824,625...55,835,464
Ensembl chr 7:55,827,375...55,835,459
Ensembl chr 7:55,827,375...55,835,459 		JBrowse link
G NMB neuromedin B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:52,880,817...52,886,651
Ensembl chr 7:52,883,128...52,886,642 		JBrowse link
G NOP10 NOP10 ribonucleoprotein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:80,161,024...80,162,299
Ensembl chr 7:80,161,096...80,164,328 		JBrowse link
G NOX5 NADPH oxidase 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:166,866,930...166,907,994
Ensembl chr 1:166,868,087...166,907,522 		JBrowse link
G NPTN neuroplastin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:59,768,414...59,840,594
Ensembl chr 7:59,714,080...59,840,591 		JBrowse link
G NR2E3 nuclear receptor subfamily 2 group E member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:169,358,662...169,373,175
Ensembl chr 1:169,360,729...169,366,087 		JBrowse link
G NRG4 neuregulin 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:56,179,713...56,311,408
Ensembl chr 7:56,167,959...56,311,270 		JBrowse link
G NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase ISO OMIM:210900 MouseDO NCBI chr 4:14,359,323...14,598,192
Ensembl chr 4:14,358,651...14,598,077 		JBrowse link
G NTRK3 neurotrophic receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:191,535,262...191,941,675
Ensembl chr 1:191,535,301...191,925,327 		JBrowse link
G NUSAP1 nucleolar and spindle associated protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,992,797...130,065,641
Ensembl chr 1:129,992,804...130,065,605 		JBrowse link
G NUTM1 NUT midline carcinoma family member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:80,149,764...80,159,497
Ensembl chr 7:80,149,619...80,160,620 		JBrowse link
G OAZ2 ornithine decarboxylase antizyme 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:107,325,225...107,338,475
Ensembl chr 1:107,325,191...107,339,309 		JBrowse link
G OIP5 Opa interacting protein 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,036,478...130,054,058
Ensembl chr 1:130,036,480...130,047,041 		JBrowse link
G ONECUT1 one cut homeobox 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:118,913,400...118,958,140
Ensembl chr 1:118,913,460...118,917,334 		JBrowse link
G PAK6 p21 (RAC1) activated kinase 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:131,039,313...131,077,420
Ensembl chr 1:131,039,318...131,076,631 		JBrowse link
G PAQR5 progestin and adipoQ receptor family member 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:167,154,636...167,234,835
Ensembl chr 1:167,154,660...167,231,039 		JBrowse link
G PARP16 poly(ADP-ribose) polymerase family member 16 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,292,778...163,320,047
Ensembl chr 1:163,292,784...163,320,021 		JBrowse link
G PCLAF PCNA clamp associated factor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:107,659,509...107,669,477
Ensembl chr 1:107,659,509...107,670,954 		JBrowse link
G PDCD7 programmed cell death 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,157,881...163,172,528
Ensembl chr 1:163,156,925...163,170,228 		JBrowse link
G PDE8A phosphodiesterase 8A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:52,410,766...52,558,482
Ensembl chr 7:52,410,779...52,557,645 		JBrowse link
G PDIA3 protein disulfide isomerase family A member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:127,786,174...127,814,096
Ensembl chr 1:127,785,772...127,814,196 		JBrowse link
G PEAK1 pseudopodium enriched atypical kinase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:57,219,506...57,503,807
Ensembl chr 7:57,223,851...57,503,639 		JBrowse link
G PEX11A peroxisomal biogenesis factor 11 alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:55,256,239...55,264,253
Ensembl chr 7:55,256,220...55,264,247 		JBrowse link
G PIAS1 protein inhibitor of activated STAT 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:165,957,114...166,087,242
Ensembl chr 1:165,957,132...166,087,239 		JBrowse link
G PIERCE2 piercer of microtubule wall 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:116,435,725...116,448,887
Ensembl chr 1:116,435,820...116,448,972 		JBrowse link
G PIF1 PIF1 5'-to-3' DNA helicase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:107,218,580...107,227,171
Ensembl chr 1:107,218,657...107,227,168 		JBrowse link
G PIGB phosphatidylinositol glycan anchor biosynthesis class B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:116,492,910...116,519,673
Ensembl chr 1:116,491,886...116,532,934 		JBrowse link
G PKM pyruvate kinase M1/2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:60,971,807...61,032,780
Ensembl chr 7:60,975,667...61,004,316
Ensembl chr 7:60,975,667...61,004,316 		JBrowse link
G PLA2G4B phospholipase A2 group IVB ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,514,801...129,524,365
Ensembl chr 1:129,514,346...129,524,313 		JBrowse link
G PLA2G4D phospholipase A2 group IVD ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,251,495...129,270,952
Ensembl chr 1:129,247,159...129,271,028 		JBrowse link
G PLA2G4E phospholipase A2 group IVE ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,288,727...129,364,034
Ensembl chr 1:129,289,732...129,364,021 		JBrowse link
G PLA2G4F phospholipase A2 group IVF ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,200,568...129,218,417
Ensembl chr 1:129,201,069...129,217,008 		JBrowse link
G PLCB2 phospholipase C beta 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:131,005,408...131,031,864
Ensembl chr 1:131,005,408...131,028,689 		JBrowse link
G PLEKHO2 pleckstrin homology domain containing O2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:107,186,284...107,209,226
Ensembl chr 1:107,186,288...107,218,532 		JBrowse link
G PLIN1 perilipin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:55,237,517...55,250,797
Ensembl chr 7:55,236,348...55,250,797 		JBrowse link
G PML PML nuclear body scaffold ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:59,405,044...59,450,155
Ensembl chr 7:59,405,053...59,450,105 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844 		JBrowse link
G POLR2M RNA polymerase II subunit M ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:114,256,457...114,266,862
Ensembl chr 1:114,256,460...114,266,875 		JBrowse link
G PPCDC phosphopantothenoylcysteine decarboxylase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,505,969...58,549,481
Ensembl chr 7:58,525,143...58,549,430 		JBrowse link
G PPIB peptidylprolyl isomerase B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:107,886,663...107,893,155
Ensembl chr 1:107,886,658...107,893,253 		JBrowse link
G PPIP5K1 diphosphoinositol pentakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:127,865,487...127,915,501
Ensembl chr 1:127,865,562...127,915,451 		JBrowse link
G PPP1R14D protein phosphatase 1 regulatory inhibitor subunit 14D ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,473,397...130,509,561
Ensembl chr 1:130,485,346...130,509,559 		JBrowse link
G PRC1 protein regulator of cytokinesis 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:55,869,749...55,900,640
Ensembl chr 7:55,869,821...55,900,978 		JBrowse link
G PRTG protogenin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:116,132,269...116,275,678
Ensembl chr 1:116,132,165...116,268,631 		JBrowse link
G PSMA4 proteasome 20S subunit alpha 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:47,440,576...47,448,599
Ensembl chr 7:47,434,919...47,448,891 		JBrowse link
G PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:57,100,212...57,145,278
Ensembl chr 7:57,102,757...57,146,751 		JBrowse link
G PTPN9 protein tyrosine phosphatase non-receptor type 9 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,078,176...58,164,411
Ensembl chr 7:58,078,389...58,164,405 		JBrowse link
G PYGO1 pygopus family PHD finger 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:116,293,361...116,326,753
Ensembl chr 1:116,292,642...116,322,375 		JBrowse link
G RAB11A RAB11A, member RAS oncogene family ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,858,254...163,887,741
Ensembl chr 1:163,858,123...163,891,527 		JBrowse link
G RAB27A RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:116,532,816...116,606,477
Ensembl chr 1:116,532,974...116,606,474 		JBrowse link
G RAB8B RAB8B, member RAS oncogene family ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:108,772,851...108,840,222
Ensembl chr 1:108,772,851...108,840,227 		JBrowse link
G RAD51 RAD51 recombinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,592,414...130,640,326
Ensembl chr 1:130,586,665...130,640,136 		JBrowse link
G RAMAC RNA guanine-7 methyltransferase activating subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:51,948,190...51,953,605 JBrowse link
G RASGRF1 Ras protein specific guanine nucleotide releasing factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:48,121,415...48,246,749
Ensembl chr 7:48,121,419...48,246,749 		JBrowse link
G RASGRP1 RAS guanyl releasing protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:132,702,495...132,786,536
Ensembl chr 1:132,702,541...132,786,532 		JBrowse link
G RASL12 RAS like family 12 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,089,440...163,104,027
Ensembl chr 1:163,089,444...163,103,523 		JBrowse link
G RBPMS2 RNA binding protein, mRNA processing factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:107,259,302...107,296,527
Ensembl chr 1:107,259,351...107,296,524 		JBrowse link
G RCCD1 RCC1 domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:53,546,666...53,557,718
Ensembl chr 7:53,547,077...53,558,076 		JBrowse link
G RCN2 reticulocalbin 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:57,040,872...57,058,277
Ensembl chr 7:57,041,003...57,059,330 		JBrowse link
G REC114 REC114 meiotic recombination protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:59,833,229...59,941,452
Ensembl chr 7:59,838,480...59,941,418 		JBrowse link
G RFX7 regulatory factor X7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:115,732,167...115,871,951
Ensembl chr 1:115,734,347...115,871,084 		JBrowse link
G RHCG Rh family C glycoprotein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:55,046,244...55,071,504
Ensembl chr 7:55,046,245...55,071,475 		JBrowse link
G RHOV ras homolog family member V ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,443,602...130,445,664
Ensembl chr 1:130,443,579...130,445,661 		JBrowse link
G RLBP1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:54,783,965...54,800,008
Ensembl chr 7:54,776,113...54,889,014 		JBrowse link
G RMDN3 regulator of microtubule dynamics 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,574,283...130,591,580
Ensembl chr 1:130,574,237...130,615,722 		JBrowse link
G RNF111 ring finger protein 111 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:112,961,466...113,059,606
Ensembl chr 1:112,961,468...113,059,600 		JBrowse link
G RORA RAR related orphan receptor A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:110,719,004...111,482,807
Ensembl chr 1:111,375,457...111,477,703 		JBrowse link
G RPAP1 RNA polymerase II associated protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,838,556...129,857,038
Ensembl chr 1:129,838,585...129,857,041 		JBrowse link
G RPL4 ribosomal protein L4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:164,476,269...164,481,765
Ensembl chr 1:164,475,357...164,481,534 		JBrowse link
G RPLP1 ribosomal protein lateral stalk subunit P1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:167,296,084...167,298,264
Ensembl chr 1:167,296,094...167,298,263 		JBrowse link
G RPP25 ribonuclease P and MRP subunit p25 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,605,850...58,610,086
Ensembl chr 7:58,608,543...58,610,078 		JBrowse link
G RPS17 ribosomal protein S17 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:52,386,342...52,389,003
Ensembl chr 7:52,386,036...52,390,599 		JBrowse link
G RPS27L ribosomal protein S27 like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:108,881,330...108,886,334
Ensembl chr 1:108,881,552...108,890,283 		JBrowse link
G RPUSD2 RNA pseudouridine synthase domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,741,191...130,746,974
Ensembl chr 1:130,738,188...130,746,959 		JBrowse link
G RSL24D1 ribosomal L24 domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:116,612,335...116,629,161
Ensembl chr 1:116,612,330...116,629,141 		JBrowse link
G RTF1 RTF1 homolog, Paf1/RNA polymerase II complex component ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,886,798...129,942,845
Ensembl chr 1:129,886,800...129,943,181 		JBrowse link
G RYR3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:80,640,030...81,208,576
Ensembl chr 7:80,640,123...81,208,491 		JBrowse link
G SAXO2 stabilizer of axonemal microtubules 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:50,977,040...50,999,026
Ensembl chr 7:50,976,969...50,999,121 		JBrowse link
G SCAMP2 secretory carrier membrane protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,672,638...58,699,145
Ensembl chr 7:58,672,664...58,699,142 		JBrowse link
G SCAMP5 secretory carrier membrane protein 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,550,190...58,577,894
Ensembl chr 7:58,550,198...58,559,310 		JBrowse link
G SCAPER S-phase cyclin A associated protein in the ER ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:56,583,247...57,012,312
Ensembl chr 7:56,583,160...57,011,914 		JBrowse link
G SCG3 secretogranin III ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:120,045,302...120,090,035
Ensembl chr 1:120,045,309...120,138,260 		JBrowse link
G SCG5 secretogranin V ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:136,525,920...136,590,021
Ensembl chr 1:136,525,944...136,593,583 		JBrowse link
G SEC11A SEC11 homolog A, signal peptidase complex subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:52,829,267...52,872,008
Ensembl chr 7:52,829,305...52,875,623 		JBrowse link
G SECISBP2L SECIS binding protein 2 like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:122,633,628...122,688,611
Ensembl chr 1:122,633,736...122,688,603 		JBrowse link
G SEMA4B semaphorin 4B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:55,752,854...55,793,982
Ensembl chr 7:55,753,097...55,793,980 		JBrowse link
G SEMA6D semaphorin 6D ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:123,987,528...124,586,062
Ensembl chr 1:123,987,528...124,043,986 		JBrowse link
G SEMA7A semaphorin 7A (JohnMiltonHagen blood group) ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:59,094,919...59,119,534
Ensembl chr 7:59,094,932...59,119,532 		JBrowse link
G SENP8 SUMO peptidase family member, NEDD8 specific ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:169,596,816...169,615,498
Ensembl chr 1:169,596,200...169,616,138 		JBrowse link
G SERF2 small EDRK-rich factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:127,765,760...127,767,518
Ensembl chr 1:127,761,345...127,767,520 		JBrowse link
G SERINC4 serine incorporator 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:127,760,374...127,764,787
Ensembl chr 1:127,760,175...127,765,798 		JBrowse link
G SH2D7 SH2 domain containing 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:47,812,996...47,824,926
Ensembl chr 7:47,813,512...47,824,760 		JBrowse link
G SH3GL3 SH3 domain containing GRB2 like 3, endophilin A3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:51,381,091...51,514,253
Ensembl chr 7:51,381,097...51,514,225 		JBrowse link
G SHC4 SHC adaptor protein 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:122,722,745...122,871,424
Ensembl chr 1:122,725,904...122,871,426 		JBrowse link
G SHF Src homology 2 domain containing F ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,549,736...126,570,657
Ensembl chr 1:126,549,747...126,570,859 		JBrowse link
G SIN3A SIN3 transcription regulator family member A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,171,821...58,246,126
Ensembl chr 7:58,176,167...58,245,971 		JBrowse link
G SKIC8 SKI8 subunit of superkiller complex ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:47,641,103...47,661,353
Ensembl chr 7:47,641,162...47,659,866 		JBrowse link
G SKOR1 SKI family transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:165,753,522...165,766,227
Ensembl chr 1:165,751,321...165,762,299 		JBrowse link
G SLC12A1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:123,481,892...123,571,655
Ensembl chr 1:123,481,369...123,571,630 		JBrowse link
G SLC12A6 solute carrier family 12 member 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:80,164,788...80,266,335
Ensembl chr 7:80,164,911...80,268,323 		JBrowse link
G SLC24A1 solute carrier family 24 member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,603,223...163,662,071
Ensembl chr 1:163,604,594...163,658,318 		JBrowse link
G SLC24A5 solute carrier family 24 member 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:123,635,077...123,657,205
Ensembl chr 1:123,635,043...123,656,736 		JBrowse link
G SLC27A2 solute carrier family 27 member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:121,530,449...121,578,994
Ensembl chr 1:121,526,295...121,579,120 		JBrowse link
G SLC28A1 solute carrier family 28 member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:52,606,428...52,652,928
Ensembl chr 7:52,605,289...52,652,876 		JBrowse link
G SLC28A2 solute carrier family 28 member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,472,500...126,511,207
Ensembl chr 1:126,472,525...126,511,095 		JBrowse link
G SLC30A4 solute carrier family 30 member 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,236,971...126,268,102
Ensembl chr 1:126,237,032...126,268,094 		JBrowse link
G SLC51B SLC51 subunit beta ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,081,145...163,089,491
Ensembl chr 1:163,081,180...163,089,488 		JBrowse link
G SLTM SAFB like transcription modulator ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:113,085,095...113,140,604
Ensembl chr 1:113,084,008...113,136,599 		JBrowse link
G SMAD3 SMAD family member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:164,998,457...165,124,455
Ensembl chr 1:164,998,103...165,124,449 		JBrowse link
G SMAD6 SMAD family member 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:164,652,602...164,735,084
Ensembl chr 1:164,656,887...164,735,704 		JBrowse link
G SNAP23 synaptosome associated protein 23 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,849,465...128,888,972
Ensembl chr 1:128,847,931...128,888,947 		JBrowse link
G SNAPC5 small nuclear RNA activating complex polypeptide 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:164,459,111...164,475,053
Ensembl chr 1:164,467,599...164,475,011 		JBrowse link
G SNUPN snurportin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,038,917...58,065,972
Ensembl chr 7:58,038,995...58,071,243 		JBrowse link
G SNX1 sorting nexin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:107,903,954...107,949,920
Ensembl chr 1:107,903,741...107,949,923 		JBrowse link
G SNX22 sorting nexin 22 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:107,891,698...107,897,561
Ensembl chr 1:107,891,699...107,897,529 		JBrowse link
G SNX33 sorting nexin 33 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:57,999,447...58,015,598
Ensembl chr 7:57,999,459...58,014,441 		JBrowse link
G SORD sorbitol dehydrogenase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,659,198...126,701,084
Ensembl chr 1:126,655,156...126,701,138 		JBrowse link
G SPESP1 sperm equatorial segment protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:166,818,174...166,839,717
Ensembl chr 1:166,818,037...166,841,693 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,890,464...126,998,014
Ensembl chr 1:126,902,186...127,003,397
Ensembl chr 1:126,902,186...127,003,397 		JBrowse link
G SPG21 SPG21 abhydrolase domain containing, maspardin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:107,011,731...107,036,353
Ensembl chr 1:107,011,547...107,036,347 		JBrowse link
G SPINT1 serine peptidase inhibitor, Kunitz type 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,458,909...130,473,791
Ensembl chr 1:130,458,909...130,473,783 		JBrowse link
G SPPL2A signal peptide peptidase like 2A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:121,067,638...121,134,896
Ensembl chr 1:121,067,454...121,134,888 		JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:132,903,103...133,016,725
Ensembl chr 1:132,902,304...133,015,742 		JBrowse link
G SPTBN5 spectrin beta, non-erythrocytic 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,461,598...129,514,380
Ensembl chr 1:129,462,568...129,511,568 		JBrowse link
G SQOR sulfide quinone oxidoreductase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,078,335...126,137,407
Ensembl chr 1:126,076,161...126,137,062 		JBrowse link
G SRP14 signal recognition particle 14 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:131,241,561...131,247,693
Ensembl chr 1:131,241,612...131,253,411 		JBrowse link
G STARD5 StAR related lipid transfer domain containing 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:50,107,033...50,118,652
Ensembl chr 7:50,107,035...50,118,629 		JBrowse link
G STARD9 StAR related lipid transfer domain containing 9 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,656,375...128,808,951 JBrowse link
G STOML1 stomatin like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:59,448,500...59,461,208
Ensembl chr 7:59,452,176...59,461,206 		JBrowse link
G STRA6 signaling receptor and transporter of retinol STRA6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:59,317,930...59,347,274
Ensembl chr 7:59,318,011...59,347,266 		JBrowse link
G STRC stereocilin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:127,830,759...127,852,392
Ensembl chr 1:127,835,622...127,852,339 		JBrowse link
G TBC1D21 TBC1 domain family member 21 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:59,535,023...59,549,720
Ensembl chr 7:59,535,593...59,548,888 		JBrowse link
G TBC1D2B TBC1 domain family member 2B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:47,839,380...47,927,287
Ensembl chr 7:47,839,392...47,929,092 		JBrowse link
G TCF12 transcription factor 12 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:114,682,299...115,056,363
Ensembl chr 1:114,682,303...115,056,262 		JBrowse link
G TERB2 telomere repeat binding bouquet formation protein 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,738,520...126,767,948
Ensembl chr 1:126,738,663...126,768,126 		JBrowse link
G TEX9 testis expressed 9 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:115,526,738...115,607,970
Ensembl chr 1:115,526,740...115,607,894 		JBrowse link
G TGM5 transglutaminase 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,191,647...128,217,249
Ensembl chr 1:128,191,630...128,217,656 		JBrowse link
G TGM7 transglutaminase 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,153,998...128,185,105
Ensembl chr 1:128,159,562...128,185,274 		JBrowse link
G THBS1 thrombospondin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:131,728,781...131,746,098
Ensembl chr 1:131,728,784...131,746,115 		JBrowse link
G THSD4 thrombospondin type 1 domain containing 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:168,751,403...169,328,559
Ensembl chr 1:168,751,582...169,323,977 		JBrowse link
G TICRR TOPBP1 interacting checkpoint and replication regulator ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:55,142,957...55,200,259
Ensembl chr 7:55,143,240...55,200,640 		JBrowse link
G TIPIN TIMELESS interacting protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:164,349,196...164,369,297
Ensembl chr 1:164,350,705...164,369,223 		JBrowse link
G TLE3 TLE family member 3, transcriptional corepressor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:167,808,508...167,855,913
Ensembl chr 1:167,808,510...167,855,911 		JBrowse link
G TLN2 talin 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:109,208,663...109,680,663
Ensembl chr 1:109,208,672...109,584,727 		JBrowse link
G TLNRD1 talin rod domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:49,833,640...49,835,735
Ensembl chr 7:49,833,210...49,837,331 		JBrowse link
G TM6SF1 transmembrane 6 superfamily member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:51,815,109...51,844,938
Ensembl chr 7:51,815,530...51,845,163 		JBrowse link
G TMC3 transmembrane channel like 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:50,128,522...50,184,061
Ensembl chr 7:50,124,860...50,184,089 		JBrowse link
G TMCO5A transmembrane and coiled-coil domains 5A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:133,291,660...133,383,696
Ensembl chr 1:133,285,037...133,302,309 		JBrowse link
G TMED3 transmembrane p24 trafficking protein 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:48,431,629...48,442,247
Ensembl chr 7:48,431,375...48,442,645 		JBrowse link
G TMEM202 transmembrane protein 202 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:60,853,877...60,865,688
Ensembl chr 7:60,854,316...60,885,284 		JBrowse link
G TMEM266 transmembrane protein 266 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:56,311,510...56,440,650
Ensembl chr 7:56,311,548...56,440,328 		JBrowse link
G TMEM62 transmembrane protein 62 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,269,590...128,306,128
Ensembl chr 1:128,269,599...128,306,056 		JBrowse link
G TMEM87A transmembrane protein 87A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,098,388...129,142,168
Ensembl chr 1:129,098,388...129,142,161 		JBrowse link
G TMOD2 tropomodulin 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:119,956,583...120,009,372
Ensembl chr 1:119,956,588...120,009,372 		JBrowse link
G TMOD3 tropomodulin 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:119,864,878...119,948,795
Ensembl chr 1:119,862,244...119,948,880 		JBrowse link
G TNFAIP8L3 TNF alpha induced protein 8 like 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:120,807,533...120,849,830
Ensembl chr 1:120,807,392...120,849,826 		JBrowse link
G TP53BP1 tumor protein p53 binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:127,958,500...128,032,370
Ensembl chr 1:127,959,213...128,028,712 		JBrowse link
G TPM1 tropomyosin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:108,986,981...109,016,090
Ensembl chr 1:108,986,986...109,020,035 		JBrowse link
G TRIM69 tripartite motif containing 69 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:126,775,856...126,788,628
Ensembl chr 1:126,775,217...126,814,508 		JBrowse link
G TRIP4 thyroid hormone receptor interactor 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:107,588,778...107,654,679
Ensembl chr 1:107,588,492...107,654,639 		JBrowse link
G TRPM7 transient receptor potential cation channel subfamily M member 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:121,146,093...121,250,227
Ensembl chr 1:121,146,117...121,250,224 		JBrowse link
G TSPAN3 tetraspanin 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:57,162,080...57,187,515
Ensembl chr 7:57,159,465...57,187,446 		JBrowse link
G TTBK2 tau tubulin kinase 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,489,676...128,640,094
Ensembl chr 1:128,489,744...128,635,511 		JBrowse link
G TUBGCP4 tubulin gamma complex component 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,029,393...128,084,039
Ensembl chr 1:128,029,406...128,083,958 		JBrowse link
G TYRO3 TYRO3 protein tyrosine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,811,540...129,829,395
Ensembl chr 1:129,811,544...129,829,014 		JBrowse link
G UACA uveal autoantigen with coiled-coil domains and ankyrin repeats ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:168,353,655...168,453,175
Ensembl chr 1:168,350,557...168,453,344 		JBrowse link
G UBAP1L ubiquitin associated protein 1 like ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:163,133,230...163,153,941
Ensembl chr 1:163,133,053...163,153,303 		JBrowse link
G UBE2Q2 ubiquitin conjugating enzyme E2 Q2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:56,084,017...56,144,915
Ensembl chr 7:56,084,072...56,144,916 		JBrowse link
G UBL7 ubiquitin like 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:59,070,666...59,084,119
Ensembl chr 7:59,070,728...59,084,112 		JBrowse link
G UBR1 ubiquitin protein ligase E3 component n-recognin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,319,311...128,474,330
Ensembl chr 1:128,319,311...128,474,302 		JBrowse link
G ULK3 unc-51 like kinase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:58,699,989...58,707,191
Ensembl chr 7:58,699,984...58,707,187 		JBrowse link
G UNC13C unc-13 homolog C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:117,163,115...117,765,125
Ensembl chr 1:117,166,300...117,723,335 		JBrowse link
G UNC45A unc-45 myosin chaperone A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:53,530,914...53,545,960
Ensembl chr 7:53,522,474...53,545,960 		JBrowse link
G UNG uracil DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2106500 NCBI chr14:41,746,498...41,757,841
Ensembl chr14:41,746,502...41,757,807 		JBrowse link
G USP3 ubiquitin specific peptidase 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:108,414,358...108,515,611
Ensembl chr 1:108,415,703...108,515,447 		JBrowse link
G USP50 ubiquitin specific peptidase 50 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:121,272,977...121,307,029
Ensembl chr 1:121,273,043...121,307,075 		JBrowse link
G USP8 ubiquitin specific peptidase 8 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:121,306,031...121,376,154
Ensembl chr 1:121,306,032...121,413,223 		JBrowse link
G VPS13C vacuolar protein sorting 13 homolog C ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:109,931,269...110,105,519
Ensembl chr 1:109,931,264...110,104,241 		JBrowse link
G VPS18 VPS18 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,409,121...130,420,467
Ensembl chr 1:130,409,123...130,420,450 		JBrowse link
G VPS39 VPS39 subunit of HOPS complex ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:129,144,338...129,198,760
Ensembl chr 1:129,144,344...129,198,761 		JBrowse link
G WDR72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:117,946,022...118,161,827
Ensembl chr 1:117,946,048...118,160,286 		JBrowse link
G WDR73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:52,887,468...52,904,147
Ensembl chr 7:52,887,530...52,904,146 		JBrowse link
G WDR76 WD repeat domain 76 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:127,651,765...127,741,357
Ensembl chr 1:127,654,178...127,741,354 		JBrowse link
G WDR93 WD repeat domain 93 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:55,264,240...55,316,396
Ensembl chr 7:55,264,275...55,316,397 		JBrowse link
G WHAMM WASP homolog associated with actin, golgi membranes and microtubules ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:52,108,867...52,140,333
Ensembl chr 7:52,108,869...52,140,203 		JBrowse link
G ZFAND6 zinc finger AN1-type containing 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:48,967,402...49,034,711
Ensembl chr 7:48,967,579...49,034,703 		JBrowse link
G ZFYVE19 zinc finger FYVE-type containing 19 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:130,510,718...130,517,943
Ensembl chr 1:130,510,719...130,517,216 		JBrowse link
G ZNF106 zinc finger protein 106 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,893,965...128,957,334
Ensembl chr 1:128,893,971...128,957,305 		JBrowse link
G ZNF280D zinc finger protein 280D ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:115,220,018...115,345,930
Ensembl chr 1:115,220,050...115,345,923 		JBrowse link
G ZNF592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:52,731,690...52,793,950
Ensembl chr 7:52,731,224...52,793,927 		JBrowse link
G ZNF609 zinc finger protein 609 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:107,338,608...107,583,347
Ensembl chr 1:107,340,542...107,583,273 		JBrowse link
G ZNF710 zinc finger protein 710 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:55,572,448...55,654,133
Ensembl chr 7:55,575,336...55,652,928 		JBrowse link
G ZNF770 zinc finger protein 770 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:136,121,105...136,129,838
Ensembl chr 1:136,121,111...136,130,061 		JBrowse link
G ZNF774 zinc finger protein 774 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:52,985,669...52,994,797
Ensembl chr 7:52,958,106...53,129,958 		JBrowse link
G ZSCAN2 zinc finger and SCAN domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 7:52,910,839...52,958,007
Ensembl chr 7:52,910,849...52,957,983 		JBrowse link
G ZSCAN29 zinc finger and SCAN domain containing 29 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:128,084,065...128,097,517
Ensembl chr 1:128,084,067...128,094,617 		JBrowse link
G ZWILCH zwilch kinetochore protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:164,481,784...164,526,843
Ensembl chr 1:164,481,964...164,527,223 		JBrowse link
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TOP3A DNA topoisomerase III alpha ISO ClinVar Annotator: match by term: Microcephaly, growth restriction, and increased sister chromatid exchange 2 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30057030 NCBI chr12:60,443,592...60,468,968
Ensembl chr12:60,443,677...60,468,964 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    syndrome 9894
      Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 458
        Bloom syndrome 457
        Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2 1
Path 2
Term Annotations click to browse term
  disease 17412
    Developmental Disease 17260
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17174
        genetic disease 17155
          monogenic disease 9978
            autosomal genetic disease 9202
              autosomal dominant disease 6055
                complex cortical dysplasia with other brain malformations 1564
                  Malformations of Cortical Development, Group I 1349
                    microcephaly 1110
                      Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 458
                        Bloom syndrome 457
                        Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2 1
paths to the root