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
Accession: DOID:9009080
browse the term
Synonyms: xref: MIM:PS210900
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Aagab
alpha- and gamma-adaptin binding protein
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:64,083,343...64,121,903
Ensembl chr 8:64,083,380...64,121,900
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Abhd17c
abhydrolase domain containing 17C, depalmitoylase
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:138,084,632...138,125,595
Ensembl chr 1:138,084,634...138,125,595
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Abhd2
abhydrolase domain containing 2, acylglycerol lipase
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:17407155 PMID:28492532
NCBI chr 1:133,217,403...133,298,564
Ensembl chr 1:133,217,375...133,299,061
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Acan
aggrecan
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:17407155 PMID:28492532
NCBI chr 1:132,981,582...133,044,416
Ensembl chr 1:132,981,582...133,043,627
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Acsbg1
acyl-CoA synthetase bubblegum family member 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:54,991,294...55,047,276
Ensembl chr 8:54,991,296...55,047,391
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Actc1
actin, alpha, cardiac muscle 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:100,811,987...100,817,523
Ensembl chr 3:100,811,987...100,817,523
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Adam10
ADAM metallopeptidase domain 10
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:71,346,008...71,477,889
Ensembl chr 8:71,345,837...71,477,889
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Adamts7
ADAM metallopeptidase with thrombospondin type 1 motif, 7
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:90,704,727...90,744,333
Ensembl chr 8:90,704,727...90,744,328
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Adamtsl3
ADAMTS-like 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:136,288,793...136,596,986
Ensembl chr 1:136,288,793...136,596,986
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Adpgk
ADP-dependent glucokinase
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:59,699,400...59,727,352
Ensembl chr 8:59,699,388...59,727,351
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Aen
apoptosis enhancing nuclease
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:132,815,094...132,824,522
Ensembl chr 1:132,815,142...132,824,523
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Afg2b
AFG2 AAA ATPase homolog B
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:109,694,739...109,708,356
Ensembl chr 3:109,694,757...109,707,757
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Agbl1
AGBL carboxypeptidase 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:130,043,914...130,950,739
Ensembl chr 1:130,043,970...130,951,638
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Akap13
A-kinase anchoring protein 13
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:129,313,183...129,619,647
Ensembl chr 1:129,314,402...129,619,646
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Aldh1a2
aldehyde dehydrogenase 1 family, member A2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:71,877,850...71,957,107
Ensembl chr 8:71,877,850...71,957,107
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Alpk3
alpha-kinase 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:135,014,455...135,062,294
Ensembl chr 1:135,014,499...135,062,302
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Ankdd1a
ankyrin repeat and death domain containing 1A
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:66,017,571...66,043,738
Ensembl chr 8:66,017,773...66,042,651
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Ankrd34c
ankyrin repeat domain 34C
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:90,271,264...90,281,759
Ensembl chr 8:90,269,315...90,281,775
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Ankrd63
ankyrin repeat domain 63
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:105,675,148...105,679,970
Ensembl chr 3:105,663,638...105,682,404
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Anp32a
acidic nuclear phosphoprotein 32 family member A
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:62,829,099...62,865,443
Ensembl chr 8:62,827,456...62,865,443
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Anpep
alanyl aminopeptidase, membrane
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:17407155 PMID:28492532
NCBI chr 1:133,767,332...133,810,137
Ensembl chr 1:133,767,332...133,785,789
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Anxa2
annexin A2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:70,105,268...70,141,663
Ensembl chr 8:70,105,253...70,141,658
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Ap3b2
adaptor related protein complex 3 subunit beta 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:135,412,580...135,445,191
Ensembl chr 1:135,412,580...135,445,191
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Ap3s2
adaptor related protein complex 3 subunit sigma 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:17407155 PMID:28492532
NCBI chr 1:133,818,825...133,859,269
Ensembl chr 1:133,818,825...133,859,322
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Ap4e1
adaptor related protein complex 4 subunit epsilon 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:114,272,997...114,339,484
Ensembl chr 3:114,272,956...114,336,752
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Aph1b
aph-1 homolog B, gamma secretase subunit
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:67,429,198...67,454,735
Ensembl chr 8:67,429,198...67,450,243
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Aqp9
aquaporin 9
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:71,797,231...71,837,485
Ensembl chr 8:71,797,234...71,837,395
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Aqr
aquarius intron-binding spliceosomal factor
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:100,874,987...100,945,026
Ensembl chr 3:100,874,987...100,945,044
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Arid3b
AT-rich interaction domain 3B
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:58,193,268...58,240,901
Ensembl chr 8:58,193,418...58,238,318
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Arih1
ariadne RBR E3 ubiquitin protein ligase 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:59,777,378...59,879,762
Ensembl chr 8:59,777,379...59,880,245
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Arnt2
aryl hydrocarbon receptor nuclear translocator 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:138,236,235...138,392,868
Ensembl chr 1:138,189,940...138,393,153
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Arpin
actin-related protein 2/3 complex inhibitor
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:17407155 PMID:28492532
NCBI chr 1:133,864,288...133,873,124
Ensembl chr 1:133,864,265...133,873,124
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Arpp19
cAMP-regulated phosphoprotein 19
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:75,779,640...75,802,474
Ensembl chr 8:75,779,523...75,802,452 Ensembl chr 8:75,779,523...75,802,452
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Atosa
atos homolog A
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:75,694,828...75,772,565
Ensembl chr 8:75,695,022...75,772,549
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Atp8b4
ATPase phospholipid transporting 8B4 (putative)
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:113,554,979...113,757,635
Ensembl chr 3:113,556,192...113,757,225
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Aven
apoptosis and caspase activation inhibitor
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:99,299,009...99,431,635
Ensembl chr 3:99,298,930...99,431,634
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B2m
beta-2 microglobulin
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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Bahd1
bromo adjacent homology domain containing 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:105,891,207...105,914,414
Ensembl chr 3:105,892,478...105,914,410
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Bbs4
Bardet-Biedl syndrome 4
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:59,731,912...59,765,408
Ensembl chr 8:59,731,912...59,765,607
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Bcl2a1
BCL2-related protein A1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:89,716,914...89,724,998
Ensembl chr 8:89,716,914...89,724,998
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Bcl2l10
Bcl2-like 10
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:76,107,326...76,113,373
Ensembl chr 8:76,107,326...76,113,367
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Blm
BLM RecQ like helicase
ISO ISS
ClinVar Annotator: match by term: Bloom syndrome | ClinVar Annotator: match by term: Bloom-Torre-Machacek syndrome OMIM:210900 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO OMIM CTD RGD
PMID:2678854 PMID:7585968 PMID:7799980 PMID:9285778 PMID:9388480 PMID:9536098 PMID:9758720 PMID:9837821 PMID:9840919 PMID:10069810 PMID:10090915 PMID:10569803 PMID:10734115 PMID:10812332 PMID:10965492 PMID:11281456 PMID:11399766 PMID:12242432 PMID:12444098 PMID:15579905 PMID:15609317 PMID:15930159 PMID:15990871 PMID:16199547 PMID:16876111 PMID:17407155 PMID:17576681 PMID:17878217 PMID:18414213 PMID:18471088 PMID:19763152 PMID:19917125 PMID:20301572 PMID:20307669 PMID:20639533 PMID:20980836 PMID:21113733 PMID:21440839 PMID:21815139 PMID:22406018 PMID:22582397 PMID:22657828 PMID:22829774 PMID:22885301 PMID:23028338 PMID:23129629 PMID:23161009 PMID:23225144 PMID:23276657 PMID:23292937 PMID:23552953 PMID:23928670 PMID:23960188 PMID:24033266 PMID:24096176 PMID:24118499 PMID:24448499 PMID:24728327 PMID:24733792 PMID:24816114 PMID:24932421 PMID:25111073 PMID:25129257 PMID:25182961 PMID:25186949 PMID:25231023 PMID:25399228 PMID:25525159 PMID:25619955 PMID:25637381 PMID:25640679 PMID:25653542 PMID:25741868 PMID:25741877 PMID:25794620 PMID:25850943 PMID:25901030 PMID:25940061 PMID:26028025 PMID:26247052 PMID:26296701 PMID:26340805 PMID:26358404 PMID:26467025 PMID:26503572 PMID:26556299 PMID:26580448 PMID:26585945 PMID:26681682 PMID:26689913 PMID:26786923 PMID:26788541 PMID:26822949 PMID:26979391 PMID:27124789 PMID:27153395 PMID:27175728 PMID:27270107 PMID:27356891 PMID:27516001 PMID:27657136 PMID:27876123 PMID:27959697 PMID:28125078 PMID:28195393 PMID:28232778 PMID:28464862 PMID:28492532 PMID:28611551 PMID:28724667 PMID:28805986 PMID:28873162 PMID:28877996 PMID:28944238 PMID:29098565 PMID:29212164 PMID:29338689 PMID:29439820 PMID:29453417 PMID:29478780 PMID:29484706 PMID:29625052 PMID:29641532 PMID:29659569 PMID:29753700 PMID:29785153 PMID:29970176 PMID:30044990 PMID:30082870 PMID:30138938 PMID:30152102 PMID:30214071 PMID:30214240 PMID:30256826 PMID:30262796 PMID:30306255 PMID:30441849 PMID:30502717 PMID:30541756 PMID:30613976 PMID:30666157 PMID:30840646 PMID:30871259 PMID:30995915 PMID:31118792 PMID:31159747 PMID:31212687 PMID:31218271 PMID:31253795 PMID:31263571 PMID:31360874 PMID:31562900 PMID:31589614 PMID:31681265 PMID:31780696 PMID:31816118 PMID:31844177 PMID:31937788 PMID:31942411 PMID:31956452 PMID:31970404 PMID:32029870 PMID:32073752 PMID:32107087 PMID:32283892 PMID:32449991 PMID:32566746 PMID:32595206 PMID:32655338 PMID:32704157 PMID:32860008 PMID:32868804 PMID:32923906 PMID:33073370 PMID:33077847 PMID:33193653 PMID:33219493 PMID:33318203 PMID:33332384 PMID:33436027 PMID:33528079 PMID:33558524 PMID:33563768 PMID:33606809 PMID:33647232 PMID:33832920 PMID:34117267 PMID:34177791 PMID:34288589 PMID:34308104 PMID:34497584 PMID:34538859 PMID:34767783 PMID:35218564 PMID:35264596 PMID:35273153 PMID:35314707 PMID:35892882 PMID:35969835 PMID:36232793 PMID:36315097 PMID:36732629 PMID:37316882 PMID:10779560 PMID:9388480 More...
RGD:1580056 , RGD:1599420
NCBI chr 1:134,409,832...134,496,073
Ensembl chr 1:134,409,857...134,484,312
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Bloc1s6
biogenesis of lysosomal organelles complex 1 subunit 6
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308
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Bmf
Bcl2 modifying factor
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:105,499,534...105,520,159
Ensembl chr 3:105,499,538...105,520,145
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Bnc1
basonuclin zinc finger protein 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:135,917,676...135,943,333
Ensembl chr 1:135,917,687...135,943,333
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Bnip2
BCL2 interacting protein 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:70,640,436...70,661,782
Ensembl chr 8:70,640,445...70,675,590
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Btbd1
BTB domain containing 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:135,734,549...135,773,067
Ensembl chr 1:135,734,589...135,771,981
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Bub1b
BUB1 mitotic checkpoint serine/threonine kinase B
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:105,563,089...105,615,547
Ensembl chr 3:105,563,138...105,615,547
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C1h15orf40
similar to human chromosome 15 open reading frame 40
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:135,725,869...135,732,028
Ensembl chr 1:135,717,545...135,732,039
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C2cd4a
C2 calcium-dependent domain containing 4A
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:68,467,017...68,469,781
Ensembl chr 8:68,466,664...68,470,031
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C2cd4b
C2 calcium-dependent domain containing 4B
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:68,372,793...68,396,477
Ensembl chr 8:68,384,847...68,396,328
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C3h15orf48
similar to human chromosome 15 open reading frame 48
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:109,719,952...109,723,505
Ensembl chr 3:109,719,897...109,724,006 Ensembl chr 3:109,719,897...109,724,006
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C3h15orf62
similar to human chromosome 15 open reading frame 62
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,164,179...106,167,404
Ensembl chr 3:106,157,382...106,167,831
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C8h15orf39
similar to human chromosome 15 open reading frame 39
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:57,646,324...57,655,896
Ensembl chr 8:57,645,756...57,655,941
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C8h15orf61
similar to human chromosome 15 open reading frame 61
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:63,868,125...63,872,863
Ensembl chr 8:63,868,125...63,872,751
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Calml4
calmodulin-like 4
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:63,323,426...63,335,234
Ensembl chr 8:63,323,351...63,335,234
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Capn3
calpain 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:107,407,518...107,457,858
Ensembl chr 3:107,407,850...107,457,858
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Car12
carbonic anhydrase 12
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:67,274,739...67,330,428
Ensembl chr 8:67,274,359...67,330,440
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Catsper2
cation channel, sperm associated 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:108,368,654...108,389,380
Ensembl chr 3:108,368,668...108,388,050
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Ccdc32
coiled-coil domain containing 32
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:105,998,429...106,010,985
Ensembl chr 3:105,998,430...106,010,975
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Ccdc33
coiled-coil domain containing 33
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:58,434,798...58,534,338
Ensembl chr 8:58,435,661...58,534,370
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Ccdc9b
coiled-coil domain containing 9B
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:105,736,120...105,745,039
Ensembl chr 3:105,739,174...105,744,697
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Ccnb2
cyclin B2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:71,087,594...71,100,794
Ensembl chr 8:71,087,595...71,100,874
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Ccndbp1
cyclin D1 binding protein 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:107,962,402...107,974,234
Ensembl chr 3:107,962,261...107,974,233
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Ccpg1
cell cycle progression 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:73,719,960...73,752,437
Ensembl chr 8:73,719,955...73,752,430
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Cd276
Cd276 molecule
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:58,937,751...58,968,082
Ensembl chr 8:58,937,751...58,968,380
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Cdan1
codanin 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:107,675,147...107,689,811
Ensembl chr 3:107,673,645...107,689,773
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Cdin1
CDAN1 interacting nuclease 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:102,441,553...102,646,935
Ensembl chr 3:102,441,704...102,646,682
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Celf6
CUGBP, Elav-like family member 6
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:59,975,095...60,006,060
Ensembl chr 8:59,975,088...60,005,041
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Cemip
cell migration inducing hyaluronidase 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:137,906,921...138,062,430
Ensembl chr 1:137,908,920...138,062,415
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Cep152
centrosomal protein 152
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:112,803,185...112,878,298
Ensembl chr 3:112,810,425...112,878,458 Ensembl chr 3:112,810,425...112,878,458
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Cfap161
cilia and flagella associated protein 161
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:137,743,783...137,768,685
Ensembl chr 1:137,743,784...137,768,730
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Cgnl1
cingulin-like 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:72,273,401...72,424,842
Ensembl chr 8:72,275,645...72,422,917
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Chac1
ChaC glutathione-specific gamma-glutamylcyclotransferase 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,342,302...106,345,526
Ensembl chr 3:106,342,302...106,345,526
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Chp1
calcineurin-like EF-hand protein 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,536,009...106,571,255
Ensembl chr 3:106,536,004...106,571,251
G
Chrm5
cholinergic receptor, muscarinic 5
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:99,284,846...99,337,252
Ensembl chr 3:99,284,846...99,337,252
G
Chrna3
cholinergic receptor nicotinic alpha 3 subunit
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:55,401,668...55,415,165
Ensembl chr 8:55,401,702...55,415,165
G
Chrna5
cholinergic receptor nicotinic alpha 5 subunit
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:55,369,794...55,398,526
Ensembl chr 8:55,369,794...55,398,146
G
Chrnb4
cholinergic receptor nicotinic beta 4 subunit
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:55,417,583...55,437,027
Ensembl chr 8:55,418,313...55,437,027
G
Chst14
carbohydrate sulfotransferase 14
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:105,916,481...105,918,538
Ensembl chr 3:105,916,466...105,918,548
G
Ciao2a
cytosolic iron-sulfur assembly component 2A
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:66,670,533...66,682,455
Ensembl chr 8:66,670,483...66,682,455
G
Cib1
calcium and integrin binding 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:17407155 PMID:28492532
NCBI chr 1:134,178,331...134,183,895
Ensembl chr 1:134,178,331...134,213,423
G
Cib2
calcium and integrin binding family member 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:54,930,265...54,947,157
G
Cilp
cartilage intermediate layer protein
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:65,777,281...65,792,251
Ensembl chr 8:65,777,281...65,792,251
G
Cimap1c
ciliary microtubule associated protein 1C
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:57,248,746...57,281,084
Ensembl chr 8:57,248,746...57,281,004
G
Ckmt1
creatine kinase, mitochondrial 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:108,329,859...108,335,760
Ensembl chr 3:108,330,705...108,335,758
G
Clk3
CDC-like kinase 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:58,152,155...58,167,196
Ensembl chr 8:58,152,155...58,168,181
G
Cln6
CLN6, transmembrane ER protein
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:63,303,356...63,318,360
Ensembl chr 8:63,303,029...63,318,360
G
Clpx
caseinolytic mitochondrial matrix peptidase chaperone subunit X
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:65,805,460...65,845,643
Ensembl chr 8:65,805,511...65,845,082
G
Commd4
COMM domain containing 4
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:57,566,236...57,569,701
Ensembl chr 8:57,566,236...57,569,760
G
Cops2
COP9 signalosome subunit 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:113,084,174...113,110,090
Ensembl chr 3:113,084,176...113,109,947
G
Coro2b
coronin 2B
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:62,906,861...63,017,295
Ensembl chr 8:62,906,867...63,017,302
G
Cox5a
cytochrome c oxidase subunit 5A
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:57,922,374...57,933,781
Ensembl chr 8:57,922,290...57,933,781
G
Cpeb1
cytoplasmic polyadenylation element binding protein 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:135,300,048...135,407,688
Ensembl chr 1:135,300,461...135,409,760
G
Cplx3
complexin 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:58,003,535...58,010,297
Ensembl chr 8:58,003,535...58,010,297
G
Crabp1
cellular retinoic acid binding protein 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:55,138,363...55,159,360
Ensembl chr 8:55,151,285...55,159,360
G
Crtc3
CREB regulated transcription coactivator 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:17407155 PMID:28492532
NCBI chr 1:134,552,830...134,655,929
Ensembl chr 1:134,554,696...134,655,500
G
Csk
C-terminal Src kinase
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:58,029,748...58,048,742
Ensembl chr 8:58,029,749...58,048,292
G
Csnk1g1
casein kinase 1, gamma 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:66,439,760...66,577,247
Ensembl chr 8:66,439,864...66,572,826
G
Cspg4
chondroitin sulfate proteoglycan 4
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:57,264,962...57,300,010
Ensembl chr 8:57,264,962...57,300,010
G
Ctdspl2
CTD small phosphatase like 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:108,915,263...108,970,620
Ensembl chr 3:108,915,280...108,967,227
G
Ctsh
cathepsin H
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:90,608,941...90,627,824
Ensembl chr 8:90,608,941...90,627,824
G
Ctxn2
cortexin 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:112,390,972...112,401,321
Ensembl chr 3:112,391,335...112,401,319
G
Cyp11a1
cytochrome P450, family 11, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
G
Cyp19a1
cytochrome P450, family 19, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758
G
Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
G
Cyp1a2
cytochrome P450, family 1, subfamily a, polypeptide 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312
G
Dapk2
death-associated protein kinase 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:66,706,536...66,825,567
Ensembl chr 8:66,706,609...66,825,567
G
Dennd4a
DENN domain containing 4A
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:65,322,920...65,436,331
Ensembl chr 8:65,322,941...65,436,330
G
Det1
DET1 partner of COP1 E3 ubiquitin ligase
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:132,749,736...132,765,963
Ensembl chr 1:132,749,756...132,765,923
G
Dis3l
DIS3-like exosome 3'-5' exoribonuclease
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:64,803,925...64,840,306
Ensembl chr 8:64,803,927...64,840,165
G
Disp2
dispatched RND transporter family member 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:105,762,303...105,777,826
Ensembl chr 3:105,762,305...105,777,800
G
Dll4
delta like canonical Notch ligand 4
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931
G
Dmxl2
Dmx-like 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:54,741,164...54,884,948
Ensembl chr 8:54,741,160...54,885,161
G
Dnaaf4
dynein axonemal assembly factor 4
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:73,696,394...73,711,315
Ensembl chr 8:73,698,103...73,711,292
G
Dnaja4
DnaJ heat shock protein family (Hsp40) member A4
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:55,085,246...55,102,715
Ensembl chr 8:55,085,464...55,101,207
G
Dnajc17
DnaJ heat shock protein family (Hsp40) member C17
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,162,197...106,195,771
Ensembl chr 3:106,162,197...106,195,751
G
Dph6
diphthamine biosynthesis 6
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:101,307,229...101,437,463
Ensembl chr 3:101,307,231...101,534,603
G
Dpp8
dipeptidylpeptidase 8
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:65,550,620...65,605,828
Ensembl chr 8:65,550,677...65,605,825
G
Dtwd1
DTW domain containing 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:113,392,402...113,409,322
Ensembl chr 3:113,392,457...113,408,105
G
Duox1
dual oxidase 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:109,260,526...109,295,588
Ensembl chr 3:109,262,397...109,295,563
G
Duox2
dual oxidase 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:109,223,809...109,247,023
Ensembl chr 3:109,226,924...109,245,902
G
Duoxa1
dual oxidase maturation factor 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:109,249,815...109,260,511
Ensembl chr 3:109,249,923...109,260,499
G
Duoxa2
dual oxidase maturation factor 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:109,245,337...109,249,055
Ensembl chr 3:109,245,476...109,248,968
G
Dut
deoxyuridine triphosphatase
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:112,498,864...112,509,994
Ensembl chr 3:112,498,982...112,510,771
G
Edc3
enhancer of mRNA decapping 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:58,106,147...58,151,685
Ensembl chr 8:58,106,175...58,151,671
G
Efl1
elongation factor like GTPase 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:136,638,527...136,763,518
Ensembl chr 1:136,638,527...136,763,518
G
Ehd4
EH-domain containing 4
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:107,058,191...107,121,985
Ensembl chr 3:107,058,958...107,122,002
G
Eid1
EP300 interacting inhibitor of differentiation 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:112,922,961...112,924,680
Ensembl chr 3:112,922,668...112,924,752
G
Eif2ak4
eukaryotic translation initiation factor 2 alpha kinase 4
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:105,356,261...105,441,630
Ensembl chr 3:105,356,261...105,441,630
G
Eif3j
eukaryotic translation initiation factor 3, subunit J
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:108,985,103...109,007,341
Ensembl chr 3:108,985,118...109,007,953
G
Ell3
elongation factor for RNA polymerase II 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:108,413,035...108,417,181
Ensembl chr 3:108,410,448...108,417,132
G
Emc4
ER membrane protein complex subunit 4
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:99,169,711...99,174,730
Ensembl chr 3:99,169,711...99,174,729
G
Emc7
ER membrane protein complex subunit 7
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:99,263,933...99,274,365
Ensembl chr 3:99,263,980...99,274,360
G
Epb42
erythrocyte membrane protein band 4.2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:107,979,709...107,997,932
Ensembl chr 3:107,979,713...107,997,932
G
Etfa
electron transfer flavoprotein subunit alpha
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:55,835,115...55,891,890
Ensembl chr 8:55,835,134...55,891,969
G
Exd1
exonuclease 3'-5' domain containing 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,507,839...106,535,922
Ensembl chr 3:106,508,076...106,535,922
G
Fah
fumarylacetoacetate hydrolase
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:138,548,830...138,571,599
Ensembl chr 1:138,548,834...138,571,505
G
Fam219b
family with sequence similarity 219, member B
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:57,941,327...57,946,916
Ensembl chr 8:57,941,294...57,946,906
G
Fam227b
family with sequence similarity 227, member B
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:113,226,662...113,392,396
Ensembl chr 3:113,233,205...113,392,320
G
Fam81a
family with sequence similarity 81, member A
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:70,762,852...70,821,898
Ensembl chr 8:70,763,614...70,821,875
G
Fam98b
family with sequence similarity 98, member B
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:104,134,803...104,164,249
Ensembl chr 3:104,134,824...104,163,704
G
Fanci
FA complementation group I
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:17407155 PMID:28492532
NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
G
Fbn1
fibrillin 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
G
Fbxl22
F-box and leucine-rich repeat protein 22
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:67,069,998...67,076,685
Ensembl chr 8:67,069,998...67,076,685
G
Fbxo22
F-box protein 22
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:55,579,906...55,595,981
Ensembl chr 8:55,579,891...55,596,148
G
Fem1b
fem-1 homolog B
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:63,265,301...63,278,577
Ensembl chr 8:63,265,301...63,278,577
G
Fes
FES proto-oncogene, tyrosine kinase
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:134,337,698...134,346,934
Ensembl chr 1:134,337,698...134,346,934
G
Fgf7
fibroblast growth factor 7
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:113,280,448...113,333,279
Ensembl chr 3:113,281,283...113,332,929
G
Foxb1
forkhead box B1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:70,407,221...70,409,841
Ensembl chr 8:70,408,186...70,409,781
G
Frmd5
FERM domain containing 5
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:108,492,099...108,763,715
Ensembl chr 3:108,474,562...108,763,498
G
Fsd2
fibronectin type III and SPRY domain containing 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:135,484,002...135,522,517
Ensembl chr 1:135,489,266...135,522,472
G
Fsip1
fibrous sheath interacting protein 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:105,074,584...105,217,180
Ensembl chr 3:105,068,543...105,217,167
G
Furin
furin (paired basic amino acid cleaving enzyme)
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:134,348,142...134,361,182
Ensembl chr 1:134,348,144...134,364,314
G
Gabpb1
GA binding protein transcription factor subunit beta 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:113,879,972...113,924,742
Ensembl chr 3:113,879,973...113,923,696
G
Galk2
galactokinase 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:113,110,057...113,243,014
Ensembl chr 3:113,110,030...113,233,306
G
Ganc
glucosidase, alpha; neutral C
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:107,353,369...107,406,104
Ensembl chr 3:107,353,369...107,405,241
G
Gatm
glycine amidinotransferase
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129
G
Gchfr
GTP cyclohydrolase I feedback regulator
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,158,046...106,162,080
Ensembl chr 3:106,159,394...106,162,080
G
Gcnt3
glucosaminyl (N-acetyl) transferase 3, mucin type
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:70,689,173...70,696,476
Ensembl chr 8:70,686,844...70,699,562
G
Gdpgp1
GDP-D-glucose phosphorylase 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:17407155 PMID:28492532
NCBI chr 1:134,184,119...134,193,281
Ensembl chr 1:134,183,696...134,219,783
G
Gjd2
gap junction protein, delta 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:100,771,450...100,776,134
Ensembl chr 3:100,772,062...100,775,061
G
Glce
glucuronic acid epimerase
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:62,546,104...62,612,144
Ensembl chr 8:62,546,107...62,612,040
G
Gldn
gliomedin
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:54,679,015...54,723,198
Ensembl chr 8:54,679,119...54,723,196
G
Gnb5
G protein subunit beta 5
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:76,076,120...76,105,069
Ensembl chr 8:76,073,306...76,105,069
G
Golm2
golgi membrane protein 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:108,827,017...108,896,207
Ensembl chr 3:108,827,047...108,896,207
G
Gpr176
G protein-coupled receptor 176
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:105,236,794...105,337,664
Ensembl chr 3:105,236,795...105,337,226
G
Gramd2a
GRAM domain containing 2A
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:60,079,744...60,117,788
Ensembl chr 8:60,080,338...60,115,842
G
Grem1
gremlin 1, DAN family BMP antagonist
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:100,512,317...100,524,001
Ensembl chr 3:100,512,313...100,524,082
G
Gtf2a2
general transcription factor 2A subunit 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:70,662,447...70,675,576
Ensembl chr 8:70,662,428...70,675,569
G
Hacd3
3-hydroxyacyl-CoA dehydratase 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:65,501,240...65,538,507
Ensembl chr 8:65,501,240...65,538,507
G
Hapln3
hyaluronan and proteoglycan link protein 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:17407155 PMID:28492532
NCBI chr 1:133,046,465...133,064,665
Ensembl chr 1:133,046,467...133,080,177
G
Haus2
HAUS augmin like complex subunit 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:107,553,146...107,565,982
Ensembl chr 3:107,553,161...107,565,157
G
Hcn4
hyperpolarization activated cyclic nucleotide-gated potassium channel 4
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:59,222,206...59,259,626
Ensembl chr 8:59,221,653...59,259,639
G
Hdc
histidine decarboxylase
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:113,847,256...113,865,334
Ensembl chr 3:113,847,260...113,865,341
G
Hddc3
HD domain containing 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:134,299,469...134,301,757
Ensembl chr 1:134,299,468...134,301,757
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 8:66,857,169...67,070,318
Ensembl chr 8:66,856,935...67,070,312
G
Hexa
hexosaminidase subunit alpha
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013
G
Hmg20a
high mobility group 20A
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:56,819,673...56,895,658
Ensembl chr 8:56,819,659...56,895,656
G
Homer2
homer scaffold protein 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:135,558,977...135,659,780
Ensembl chr 1:135,567,414...135,659,772
G
Hykk
hydroxylysine kinase
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:55,315,919...55,339,720
Ensembl chr 8:55,315,969...55,337,339
G
Hypk
Huntingtin interacting protein K
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:108,434,997...108,436,370
Ensembl chr 3:108,432,539...108,436,370
G
Ice2
interactor of little elongation complex ELL subunit 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:70,043,419...70,085,217
Ensembl chr 8:70,043,424...70,084,995
G
Idh2
isocitrate dehydrogenase (NADP(+)) 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:17407155 PMID:28492532
NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
G
Idh3a
isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:54,971,694...54,991,085
Ensembl chr 8:54,971,740...54,991,084
G
Igdcc3
immunoglobulin superfamily, DCC subclass, member 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:65,661,165...65,707,961
Ensembl chr 8:65,661,196...65,707,959
G
Igdcc4
immunoglobulin superfamily, DCC subclass, member 4
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:65,621,893...65,657,651
Ensembl chr 8:65,621,897...65,657,648
G
Il16
interleukin 16
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:137,617,702...137,718,022
Ensembl chr 1:137,617,944...137,718,130
G
Imp3
IMP U3 small nucleolar ribonucleoprotein 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:57,339,528...57,340,416
Ensembl chr 8:57,339,496...57,340,414
G
Ino80
INO80 complex ATPase subunit
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,368,455...106,465,716
Ensembl chr 3:106,368,455...106,467,911
G
Insyn1
inhibitory synaptic factor 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:58,904,153...58,914,850
Ensembl chr 8:58,904,153...58,914,843
G
Ints14
integrator complex subunit 14
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:65,475,788...65,500,807
Ensembl chr 8:65,475,910...65,500,804
G
Iqch
IQ motif containing H
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:63,889,816...64,083,248
Ensembl chr 8:63,892,370...64,083,223
G
Iqgap1
IQ motif containing GTPase activating protein 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:17407155 PMID:28492532
NCBI chr 1:134,679,581...134,769,776
Ensembl chr 1:134,679,586...134,769,755
G
Ireb2
iron responsive element binding protein 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:55,228,080...55,311,613
Ensembl chr 8:55,228,085...55,311,611
G
Isg20
interferon stimulated exonuclease gene 20
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:132,829,303...132,837,027
Ensembl chr 1:132,815,123...132,837,027
G
Isl2
ISL LIM homeobox 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:55,923,805...55,928,790
Ensembl chr 8:55,923,805...55,928,790
G
Islr
immunoglobulin superfamily containing leucine-rich repeat
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:58,571,155...58,574,128
Ensembl chr 8:58,570,777...58,574,130
G
Islr2
immunoglobulin superfamily containing leucine-rich repeat 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:58,608,165...58,616,246
Ensembl chr 8:58,608,709...58,614,650
G
Itga11
integrin subunit alpha 11
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:63,145,998...63,254,714
Ensembl chr 8:63,146,001...63,254,407
G
Itpka
inositol-trisphosphate 3-kinase A
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,726,036...106,734,601
Ensembl chr 3:106,726,036...106,734,600
G
Ivd
isovaleryl-CoA dehydrogenase
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:105,851,710...105,872,144
Ensembl chr 3:105,851,683...105,872,575
G
Jmjd7
jumonji domain containing 7
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,998,454...107,004,538
Ensembl chr 3:106,998,477...107,004,538
G
Katnbl1
katanin regulatory subunit B1 like 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:99,183,748...99,225,789
Ensembl chr 3:99,183,716...99,225,786
G
Kbtbd13
kelch repeat and BTB domain containing 13
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:65,909,821...65,911,558
G
Kif23
kinesin family member 23
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:62,397,908...62,425,162
Ensembl chr 8:62,397,948...62,425,072
G
Kif7
kinesin family member 7
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:17407155 PMID:28492532
NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
G
Klhl25
kelch-like family member 25
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:129,724,894...129,750,142
Ensembl chr 1:129,722,026...129,750,227
G
Knl1
kinetochore scaffold 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,029,627...106,091,915
Ensembl chr 3:106,029,661...106,091,915
G
Knstrn
kinetochore-localized astrin/SPAG5 binding protein
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:105,800,762...105,820,555
Ensembl chr 3:105,800,954...105,820,715
G
Lactb
lactamase, beta
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:67,571,504...67,587,592
Ensembl chr 8:67,571,500...67,587,539
G
Larp6
La ribonucleoprotein 6, translational regulator
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:61,183,744...61,205,548
Ensembl chr 8:61,184,116...61,205,535
G
Lcmt2
leucine carboxyl methyltransferase 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:108,099,960...108,102,084
Ensembl chr 3:108,099,961...108,102,084
G
Lctl
lactase-like
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:64,618,356...64,654,851
Ensembl chr 8:64,618,350...64,639,357
G
Ldhal6b
lactate dehydrogenase A-like 6B
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:45,997,845...45,999,268
Ensembl chr 1:45,991,991...45,999,272
G
Leo1
LEO1 homolog, Paf1/RNA polymerase II complex component
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:76,199,547...76,223,983
Ensembl chr 8:76,199,099...76,223,983
G
Lingo1
leucine rich repeat and Ig domain containing 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:57,011,272...57,193,496
Ensembl chr 8:57,010,007...57,196,544
G
Lipc
lipase C, hepatic type
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
G
Lman1l
lectin, mannose-binding, 1 like
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:58,010,839...58,029,599
Ensembl chr 8:58,010,839...58,023,681
G
LOC120094549
U5 spliceosomal RNA
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:65,720,876...65,720,991
Ensembl chr 8:65,720,876...65,720,991
G
LOC120094551
U6 spliceosomal RNA
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:63,594,040...63,594,146
Ensembl chr 8:63,594,040...63,594,146 Ensembl chr14:63,594,040...63,594,146 Ensembl chr15:63,594,040...63,594,146 Ensembl chr17:63,594,040...63,594,146 Ensembl chr X:63,594,040...63,594,146 Ensembl chr17:63,594,040...63,594,146 Ensembl chr10:63,594,040...63,594,146 Ensembl chr14:63,594,040...63,594,146 Ensembl chr11:63,594,040...63,594,146 Ensembl chr15:63,594,040...63,594,146 Ensembl chr 2:63,594,040...63,594,146 Ensembl chr 3:63,594,040...63,594,146 Ensembl chr X:63,594,040...63,594,146 Ensembl chr 5:63,594,040...63,594,146 Ensembl chr14:63,594,040...63,594,146 Ensembl chr 7:63,594,040...63,594,146 Ensembl chr13:63,594,040...63,594,146 Ensembl chr 8:63,594,040...63,594,146 Ensembl chr 9:63,594,040...63,594,146 Ensembl chr 2:63,594,040...63,594,146 Ensembl chr16:63,594,040...63,594,146 Ensembl chr16:63,594,040...63,594,146 Ensembl chr 9:63,594,040...63,594,146 Ensembl chr15:63,594,040...63,594,146 Ensembl chr 5:63,594,040...63,594,146 Ensembl chr 2:63,594,040...63,594,146 Ensembl chr 6:63,594,040...63,594,146 Ensembl chr 1:63,594,040...63,594,146 Ensembl chr14:63,594,040...63,594,146 Ensembl chr 2:63,594,040...63,594,146 Ensembl chr 6:63,594,040...63,594,146 Ensembl chr 3:63,594,040...63,594,146 Ensembl chr18:63,594,040...63,594,146 Ensembl chr 5:63,594,040...63,594,146 Ensembl chr 6:63,594,040...63,594,146 Ensembl chr 1:63,594,040...63,594,146 Ensembl chr 2:63,594,040...63,594,146 Ensembl chr18:63,594,040...63,594,146 Ensembl chr18:63,594,040...63,594,146 Ensembl chr 6:63,594,040...63,594,146 Ensembl chr 2:63,594,040...63,594,146 Ensembl chr X:63,594,040...63,594,146 Ensembl chr 6:63,594,040...63,594,146 Ensembl chr10:63,594,040...63,594,146 Ensembl chr 7:63,594,040...63,594,146 Ensembl chr 4:63,594,040...63,594,146
G
Loxl1
lysyl oxidase-like 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:58,691,763...58,716,365
Ensembl chr 8:58,692,593...58,716,356
G
Lpcat4
lysophosphatidylcholine acyltransferase 4
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:99,044,729...99,052,963
Ensembl chr 3:99,044,729...99,052,875
G
Lrrc49
leucine rich repeat containing 49
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:61,053,264...61,160,695
Ensembl chr 8:61,053,267...61,160,850
G
Lrrc57
leucine rich repeat containing 57
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:107,544,786...107,553,256
Ensembl chr 3:107,547,405...107,553,256
G
Ltk
leukocyte receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,734,675...106,741,552
Ensembl chr 3:106,734,676...106,743,369
G
Lysmd2
LysM domain containing 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:76,378,984...76,394,396
Ensembl chr 8:76,379,219...76,394,654
G
Man2a2
mannosidase, alpha, class 2A, member 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:134,304,714...134,327,611
Ensembl chr 1:134,306,236...134,327,315
G
Man2c1
mannosidase, alpha, class 2C, member 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:57,537,879...57,549,691
Ensembl chr 8:57,537,321...57,549,690
G
Map1a
microtubule-associated protein 1A
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:108,263,217...108,283,936
Ensembl chr 3:108,263,151...108,282,899
G
Map2k1
mitogen activated protein kinase kinase 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147
G
Map2k5
mitogen activated protein kinase kinase 5
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:63,625,220...63,852,090
Ensembl chr 8:63,625,221...63,851,983
G
Mapda
N6-Methyl-AMP deaminase
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:108,101,857...108,119,557
Ensembl chr 3:108,101,857...108,118,516 Ensembl chr 3:108,101,857...108,118,516
G
Mapk6
mitogen-activated protein kinase 6
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:76,146,650...76,169,767
Ensembl chr 8:76,146,690...76,169,720
G
Mapkbp1
mitogen activated protein kinase binding protein 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,947,342...106,998,368
Ensembl chr 3:106,947,827...106,996,199
G
Megf11
multiple EGF-like-domains 11
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:64,892,312...65,218,984
Ensembl chr 8:64,892,387...65,216,061
G
Meis2
Meis homeobox 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:102,742,904...102,944,833
Ensembl chr 3:102,742,900...102,949,696
G
Mesd
mesoderm development LRP chaperone
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:137,866,707...137,879,999
Ensembl chr 1:137,874,242...137,879,999
G
Mesp1
mesoderm posterior bHLH transcription factor 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:17407155 PMID:28492532
NCBI chr 1:133,738,357...133,739,875
Ensembl chr 1:133,738,357...133,739,875
G
Mesp2
mesoderm posterior bHLH transcription factor 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:17407155 PMID:28492532
NCBI chr 1:133,756,601...133,759,207
Ensembl chr 1:133,756,601...133,759,198
G
Mex3b
mex-3 RNA binding family member B
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:136,855,130...136,859,365
Ensembl chr 1:136,855,130...136,859,354
G
Mfap1a
microfibrillar-associated protein 1A
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:108,440,163...108,456,744
Ensembl chr 3:108,438,845...108,456,750
G
Mfge8
milk fat globule EGF and factor V/VIII domain containing
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:17407155 PMID:28492532
NCBI chr 1:133,064,665...133,080,069
Ensembl chr 1:133,064,665...133,080,073
G
Mga
MAX dimerization protein MGA
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,851,216...106,942,908
Ensembl chr 3:106,851,140...106,941,043
G
Minar1
membrane integral NOTCH2 associated receptor 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:90,137,374...90,169,152
Ensembl chr 8:90,137,374...90,169,137
G
Mindy2
MINDY lysine 48 deubiquitinase 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:71,268,274...71,327,698
Ensembl chr 8:71,256,447...71,328,453
G
Mir184
microRNA 184
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:90,343,134...90,343,210
Ensembl chr 8:90,343,134...90,343,210
G
Mir9-3
microRNA 9-3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:17407155 PMID:28492532
NCBI chr 1:133,440,049...133,440,138
G
Mns1
meiosis-specific nuclear structural 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:73,148,877...73,169,570
Ensembl chr 8:73,148,877...73,176,925
G
Morf4l1
mortality factor 4 like 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:90,642,988...90,664,518
Ensembl chr 8:90,642,988...90,664,519
G
Mpi
mannose phosphate isomerase
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:57,947,883...57,956,205
Ensembl chr 8:57,947,893...57,956,150
G
Mrpl46
mitochondrial ribosomal protein L46
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:132,698,872...132,707,639
Ensembl chr 1:132,698,601...132,707,628
G
Mrps11
mitochondrial ribosomal protein S11
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:132,707,601...132,717,253
Ensembl chr 1:132,680,420...132,717,253
G
Mtfmt
mitochondrial methionyl-tRNA formyltransferase
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:65,953,787...65,971,841
Ensembl chr 8:65,953,767...65,971,841
G
Mthfs
methenyltetrahydrofolate synthetase
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:89,729,498...89,801,998
Ensembl chr 8:89,729,508...89,799,089
G
Myef2
myelin expression factor 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:112,338,241...112,374,122
Ensembl chr 3:112,338,241...112,374,181
G
Myo1e
myosin IE
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:70,887,934...71,080,180
Ensembl chr 8:70,887,870...71,080,169
G
Myo5a
myosin VA
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:75,811,985...75,980,049
Ensembl chr 8:75,812,412...75,975,918
G
Myo5c
myosin VC
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:75,989,497...76,066,485
Ensembl chr 8:75,989,528...76,066,483
G
Myo9a
myosin IXA
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:60,149,234...60,352,330
Ensembl chr 8:60,149,234...60,350,514
G
Myzap
myocardial zonula adherens protein
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:72,155,817...72,243,036
Ensembl chr 8:72,131,530...72,243,036
G
Ndufaf1
NADH:ubiquinone oxidoreductase complex assembly factor 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,639,025...106,650,549
Ensembl chr 3:106,639,851...106,650,212
G
Nedd4
NEDD4 E3 ubiquitin protein ligase
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:73,384,095...73,468,951
Ensembl chr 8:73,383,695...73,468,951
G
Neil1
nei-like DNA glycosylase 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:57,550,142...57,556,884
Ensembl chr 8:57,550,147...57,556,258
G
Neo1
neogenin 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:59,273,860...59,426,486
Ensembl chr 8:59,275,569...59,430,348
G
Ngrn
neugrin, neurite outgrowth associated
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:17407155 PMID:28492532
NCBI chr 1:134,213,235...134,219,348
Ensembl chr 1:134,213,456...134,219,339
G
Nmb
neuromedin B
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:134,869,446...134,875,507
Ensembl chr 1:134,869,446...134,872,190
G
Nop10
NOP10 ribonucleoprotein
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:99,066,857...99,067,942
Ensembl chr 3:99,066,857...99,067,942
G
Nptn
neuroplastin
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:58,996,873...59,063,402
Ensembl chr 8:58,996,887...59,063,401
G
Nr2e3
nuclear receptor subfamily 2, group E, member 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:60,365,581...60,373,383
Ensembl chr 8:60,366,124...60,373,163
G
Nrg4
neuregulin 4
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:55,586,253...55,677,829
Ensembl chr 8:55,592,893...55,677,483
G
Nsmce2
NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase
ISS
OMIM:210900
MouseDO
NCBI chr 7:90,936,112...91,173,435
Ensembl chr 7:90,936,112...91,164,899
G
Ntrk3
neurotrophic receptor tyrosine kinase 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:132,116,472...132,503,849
Ensembl chr 1:132,132,849...132,503,286
G
Nusap1
nucleolar and spindle associated protein 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,603,273...106,633,428
Ensembl chr 3:106,603,289...106,633,624
G
Nutm1
NUT midline carcinoma, family member 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:99,053,510...99,064,311
Ensembl chr 3:99,053,510...99,064,311
G
Oaz2
ornithine decarboxylase antizyme 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:66,199,694...66,213,513
Ensembl chr 8:66,199,706...66,231,453
G
Oip5
Opa interacting protein 5
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,593,746...106,603,281
Ensembl chr 3:106,593,760...106,603,250
G
Onecut1
one cut homeobox 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:75,599,432...75,633,598
Ensembl chr 8:75,599,740...75,627,277
G
Pak6
p21 (RAC1) activated kinase 6
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:105,638,248...105,674,399
Ensembl chr 3:105,638,653...105,672,975
G
Paqr5
progestin and adipoQ receptor family member 5
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:62,431,867...62,513,688
Ensembl chr 8:62,431,867...62,513,688
G
Parp16
poly (ADP-ribose) polymerase family, member 16
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:65,731,152...65,749,438
Ensembl chr 8:65,727,706...65,749,433
G
Parp6
poly (ADP-ribose) polymerase family, member 6
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:60,016,594...60,049,108
Ensembl chr 8:60,016,877...60,049,108
G
Patl2
PAT1 homolog 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:109,072,958...109,087,425
Ensembl chr 3:109,075,290...109,083,253
G
Pclaf
PCNA clamp associated factor
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:66,420,606...66,432,994
Ensembl chr 8:66,420,587...66,432,994 Ensembl chr 8:66,420,587...66,432,994
G
Pdcd7
programmed cell death 7
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:65,862,606...65,877,333
Ensembl chr 8:65,862,387...65,877,333
G
Pde8a
phosphodiesterase 8A
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:135,166,143...135,288,986
Ensembl chr 1:135,166,237...135,288,024
G
Pdia3
protein disulfide isomerase family A, member 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:108,388,189...108,412,013
Ensembl chr 3:108,388,245...108,413,236
G
Peak1
pseudopodium-enriched atypical kinase 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:56,605,040...56,819,748
Ensembl chr 8:56,609,015...56,819,096
G
Pex11a
peroxisomal biogenesis factor 11 alpha
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:17407155 PMID:28492532
NCBI chr 1:133,680,091...133,687,172
Ensembl chr 1:133,680,091...133,687,172
G
Phgr1
proline, histidine and glycine rich 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:105,742,822...105,760,835
Ensembl chr 3:105,757,581...105,760,832
G
Pias1
protein inhibitor of activated STAT, 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:63,338,150...63,451,670
Ensembl chr 8:63,338,150...63,438,905
G
Pierce2
piercer of microtubule wall 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:73,715,383...73,719,849
Ensembl chr 8:73,715,383...73,719,849
G
Pif1
PIF1 5'-to-3' DNA helicase
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:66,110,641...66,120,202
Ensembl chr 8:66,111,072...66,120,200
G
Pigb
phosphatidylinositol glycan anchor biosynthesis, class B
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:73,751,756...73,775,679
Ensembl chr 8:73,751,798...73,775,679
G
Pkm
pyruvate kinase M1/2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:60,057,629...60,079,600
Ensembl chr 8:60,057,402...60,079,599
G
Pla2g4b
phospholipase A2 group IVB
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:107,004,238...107,013,853
Ensembl chr 3:107,005,489...107,013,853
G
Pla2g4d
phospholipase A2 group IVD
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:107,220,973...107,242,224
Ensembl chr 3:107,220,978...107,242,224
G
Pla2g4e
phospholipase A2, group IVE
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:107,132,540...107,198,609
Ensembl chr 3:107,132,541...107,198,233
G
Pla2g4f
phospholipase A2, group IVF
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:107,249,053...107,266,201
Ensembl chr 3:107,250,075...107,264,689
G
Plcb2
phospholipase C, beta 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:105,683,676...105,704,384
Ensembl chr 3:105,684,815...105,704,302
G
Plekho2
pleckstrin homology domain containing O2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:66,079,106...66,105,283
Ensembl chr 8:66,078,448...66,105,266
G
Plin1
perilipin 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:17407155 PMID:28492532
NCBI chr 1:133,664,294...133,676,854
Ensembl chr 1:133,664,892...133,676,828
G
Pml
PML nuclear body scaffold
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:58,627,347...58,661,927
Ensembl chr 8:58,628,837...58,658,971
G
Polg
DNA polymerase gamma, catalytic subunit
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:17407155 PMID:28492532
NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
G
Polr2m
RNA polymerase II subunit M
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:72,131,992...72,139,423
Ensembl chr 8:72,131,530...72,243,036
G
Ppcdc
phosphopantothenoylcysteine decarboxylase
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:57,815,195...57,842,863
Ensembl chr 8:57,815,195...58,000,570
G
Ppib
peptidylprolyl isomerase B
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:66,603,877...66,609,734
Ensembl chr 8:66,603,861...66,630,428
G
Ppip5k1
diphosphoinositol pentakisphosphate kinase 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:108,284,120...108,327,683
Ensembl chr 3:108,284,120...108,323,428
G
Ppp1r14d
protein phosphatase 1, regulatory (inhibitor) subunit 14D
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,205,043...106,219,290
Ensembl chr 3:106,205,046...106,219,649
G
Prc1
protein regulator of cytokinesis 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:134,250,086...134,271,765
Ensembl chr 1:134,250,081...134,271,765
G
Prtg
protogenin
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:73,548,440...73,657,945
Ensembl chr 8:73,548,466...73,653,259
G
Psma4
proteasome 20S subunit alpha 4
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:55,340,431...55,347,893
Ensembl chr 8:55,340,386...55,347,890
G
Pstpip1
proline-serine-threonine phosphatase-interacting protein 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:56,499,287...56,538,593
Ensembl chr 8:56,499,590...56,538,580
G
Ptpn9
protein tyrosine phosphatase, non-receptor type 9
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:57,391,290...57,472,352
Ensembl chr 8:57,391,259...57,470,952
G
Pygo1
pygopus family PHD finger 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:73,666,210...73,684,873
Ensembl chr 8:73,665,593...73,684,869
G
Rab11a
RAB11a, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:65,223,698...65,246,461
Ensembl chr 8:65,222,949...65,246,525
G
Rab27a
RAB27A, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829
G
Rab8b
RAB8B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:67,458,921...67,536,466
Ensembl chr 8:67,458,923...67,536,384
G
Rad51
RAD51 recombinase
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,099,753...106,125,038
Ensembl chr 3:106,100,381...106,125,035
G
Ramac
RNA guanine-7 methyltransferase activating subunit
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:135,708,529...135,714,417
Ensembl chr 1:135,708,535...135,722,151
G
Rasgrf1
RAS protein-specific guanine nucleotide-releasing factor 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:90,445,154...90,574,274
Ensembl chr 8:90,445,154...90,574,269
G
Rasgrp1
RAS guanyl releasing protein 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:104,168,549...104,230,107
Ensembl chr 3:104,170,013...104,230,056
G
Rasl12
RAS-like, family 12
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:65,917,840...65,931,885
Ensembl chr 8:65,917,840...65,932,741
G
Rbpms2
RNA binding protein, mRNA processing factor 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:66,153,169...66,184,278
Ensembl chr 8:66,153,593...66,184,268
G
Rccd1
RCC1 domain containing 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:134,271,870...134,281,556
Ensembl chr 1:134,271,857...134,280,781
G
Rcn2
reticulocalbin 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:56,449,206...56,466,253
Ensembl chr 8:56,449,206...56,466,251
G
Rec114
REC114 meiotic recombination protein
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:59,063,352...59,221,439
Ensembl chr 8:59,063,352...59,149,887
G
Rfx7
regulatory factor X, 7
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:73,254,051...73,339,209
Ensembl chr 8:73,254,051...73,339,209
G
Rhcg
Rh family, C glycoprotein
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:17407155 PMID:28492532
NCBI chr 1:133,531,704...133,555,902
Ensembl chr 1:133,531,716...133,555,876
G
Rhov
ras homolog family member V
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,260,774...106,270,009
Ensembl chr 3:106,260,776...106,269,479
G
Rlbp1
retinaldehyde binding protein 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:17407155 PMID:28492532
NCBI chr 1:133,308,920...133,322,296
Ensembl chr 1:133,308,938...133,322,296
G
Rmdn3
regulator of microtubule dynamics 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,125,961...106,146,568
Ensembl chr 3:106,125,951...106,146,586
G
Rnf111
ring finger protein 111
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:71,103,967...71,180,172
Ensembl chr 8:71,103,973...71,145,070
G
Rora
RAR-related orphan receptor A
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:69,301,635...70,034,741
Ensembl chr 8:69,301,733...70,025,931
G
Rpap1
RNA polymerase II associated protein 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,746,642...106,768,182
Ensembl chr 3:106,656,742...106,768,151
G
Rpl4
ribosomal protein L4
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:64,671,177...64,676,301
Ensembl chr 8:64,671,160...64,676,306
G
Rplp1
ribosomal protein lateral stalk subunit P1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:62,394,008...62,395,341
Ensembl chr 8:62,393,177...62,395,339
G
Rpp25
ribonuclease P and MRP subunit p25
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:57,907,352...57,908,732
Ensembl chr 8:57,907,352...57,908,732
G
Rps17
ribosomal protein S17
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:135,295,920...135,298,506
Ensembl chr 1:135,295,919...135,298,535 Ensembl chr 8:135,295,919...135,298,535
G
Rps27l
ribosomal protein S27-like
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:67,562,483...67,567,418
Ensembl chr 8:67,562,483...67,567,418 Ensembl chr12:67,562,483...67,567,418 Ensembl chr 2:67,562,483...67,567,418
G
Rpusd2
RNA pseudouridine synthase domain containing 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,017,759...106,023,010
Ensembl chr 3:106,017,864...106,023,251
G
Rsl24d1
ribosomal L24 domain containing 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:73,852,991...73,861,996
Ensembl chr 8:73,852,996...73,862,001
G
Rtf1
Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,659,363...106,718,956
Ensembl chr 3:106,659,308...106,718,970
G
Ryr3
ryanodine receptor 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:99,431,755...99,979,125
Ensembl chr 3:99,432,505...99,704,961
G
Saxo2
stabilizer of axonemal microtubules 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:136,596,445...136,638,444
Ensembl chr 1:136,623,493...136,638,454
G
Scamp2
secretory carrier membrane protein 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:57,965,612...57,992,248
Ensembl chr 8:57,965,631...57,992,646
G
Scamp5
secretory carrier membrane protein 5
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:57,845,831...57,884,516
Ensembl chr 8:57,846,659...57,872,027
G
Scaper
S-phase cyclin A-associated protein in the ER
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:55,932,717...56,332,222
Ensembl chr 8:55,933,306...56,332,122
G
Scarna15
small Cajal body-specific RNA 15
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:135,484,620...135,484,683
Ensembl chr 1:135,484,559...135,484,685 Ensembl chr 1:135,484,559...135,484,685
G
Scg3
secretogranin III
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:76,399,777...76,442,015
Ensembl chr 8:76,399,777...76,442,015
G
Scg5
secretogranin V
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:100,544,101...100,588,558
Ensembl chr 3:100,544,099...100,588,463
G
Sec11a
SEC11 homolog A, signal peptidase complex subunit
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:134,881,448...134,909,427
Ensembl chr 1:134,875,265...134,915,069
G
Secisbp2l
SECIS binding protein 2-like
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:112,989,613...113,036,060
Ensembl chr 3:112,991,908...113,035,884
G
Sema4b
semaphorin 4B
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:17407155 PMID:28492532
NCBI chr 1:134,136,646...134,177,777
Ensembl chr 1:134,149,536...134,177,775
G
Sema6d
semaphorin 6D
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:111,883,415...111,941,100
Ensembl chr 3:111,883,872...111,941,094
G
Sema7a
semaphorin 7A (John Milton Hagen blood group)
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:58,348,448...58,370,536
Ensembl chr 8:58,348,448...58,370,536
G
Senp8
SUMO peptidase family member, NEDD8 specific
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:60,135,446...60,148,836
Ensembl chr 8:60,121,714...60,148,928
G
Serf2
small EDRK-rich factor 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:108,426,960...108,430,736
Ensembl chr 3:108,426,887...108,430,724
G
Serinc4
serine incorporator 4
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:108,428,896...108,434,778
Ensembl chr 3:108,428,897...108,434,778
G
Sh2d7
SH2 domain containing 7
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:54,918,399...54,930,129
Ensembl chr 8:54,918,406...54,929,726
G
Sh3gl3
SH3 domain containing GRB2 like 3, endophilin A3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:136,124,500...136,255,669
Ensembl chr 1:136,124,499...136,255,584
G
Shc4
SHC adaptor protein 4
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:112,880,598...112,974,216
Ensembl chr 3:112,880,600...112,974,366
G
Shf
Src homology 2 domain containing F
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:109,296,517...109,316,315
Ensembl chr 3:109,296,784...109,316,328
G
Sin3a
SIN3 transcription regulator family member A
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:57,481,539...57,536,195
Ensembl chr 8:57,481,573...57,536,192
G
Skic8
SKI8 subunit of superkiller complex
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:55,103,542...55,120,837
Ensembl chr 8:55,103,545...55,120,813
G
Skor1
SKI family transcriptional corepressor 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:63,599,153...63,609,727
Ensembl chr 8:63,599,165...63,607,756
G
Slc12a1
solute carrier family 12 member 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:112,406,140...112,482,913
Ensembl chr 3:112,406,140...112,482,899
G
Slc12a6
solute carrier family 12, member 6
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:99,071,577...99,170,266
Ensembl chr 3:99,071,391...99,170,258
G
Slc24a1
solute carrier family 24 member 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:65,440,842...65,466,001
Ensembl chr 8:65,440,730...65,466,001
G
Slc24a5
solute carrier family 24 member 5
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:112,319,349...112,338,889
Ensembl chr 3:112,319,308...112,339,231
G
Slc27a2
solute carrier family 27 member 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:113,804,728...113,842,208
Ensembl chr 3:113,804,728...113,842,208
G
Slc28a1
solute carrier family 28 member 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:135,079,375...135,122,791
Ensembl chr 1:135,081,385...135,122,464
G
Slc28a2
solute carrier family 28 member 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:109,324,815...109,387,702
Ensembl chr 3:109,366,996...109,387,702
G
Slc30a4
solute carrier family 30 member 4
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:109,753,270...109,775,306
Ensembl chr 3:109,753,273...109,775,306
G
Slc51b
SLC51 subunit beta
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:65,931,891...65,939,953
Ensembl chr 8:65,931,890...65,940,145
G
Sltm
SAFB-like, transcription modulator
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:71,215,995...71,261,821
Ensembl chr 8:71,216,612...71,261,825
G
Smad3
SMAD family member 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
G
Smad6
SMAD family member 6
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763
G
Snap23
synaptosome associated protein 23
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:107,514,088...107,546,177
Ensembl chr 3:107,514,131...107,544,320
G
Snapc5
small nuclear RNA activating complex, polypeptide 5
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:64,677,204...64,680,769
Ensembl chr 8:64,677,205...64,681,964
G
Snupn
snurportin 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:57,347,412...57,388,345
Ensembl chr 8:57,348,130...57,380,912
G
Snx1
sorting nexin 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:66,630,086...66,670,418
Ensembl chr 8:66,630,086...66,670,360
G
Snx22
sorting nexin 22
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:66,609,914...66,612,932
Ensembl chr 8:66,609,970...66,612,850
G
Snx33
sorting nexin 33
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:57,315,861...57,328,522
Ensembl chr 8:57,317,161...57,327,538
G
Sord
sorbitol dehydrogenase
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:109,184,697...109,216,133
Ensembl chr 3:109,184,676...109,216,133
G
Spesp1
sperm equatorial segment protein 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:62,751,313...62,766,657
Ensembl chr 8:62,751,297...62,766,718
G
Spg11
SPG11 vesicle trafficking associated, spatacsin
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:109,007,658...109,072,904
Ensembl chr 3:109,008,135...109,072,911
G
Spg21
SPG21 abhydrolase domain containing, maspardin
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:65,980,992...66,008,537
Ensembl chr 8:65,980,962...66,008,536
G
Spint1
serine peptidase inhibitor, Kunitz type 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,231,082...106,244,121
Ensembl chr 3:106,231,444...106,244,119
G
Sppl2a
signal peptide peptidase-like 2A
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:114,149,337...114,193,408
Ensembl chr 3:114,151,069...114,193,264
G
Spred1
sprouty-related, EVH1 domain containing 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:103,983,120...104,050,321
Ensembl chr 3:103,983,072...104,049,718
G
Sptbn5
spectrin, beta, non-erythrocytic 5
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:107,013,783...107,054,878
Ensembl chr 3:107,013,265...107,054,324
G
Sqor
sulfide quinone oxidoreductase
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:109,841,225...109,886,724
Ensembl chr 3:109,841,250...109,960,778
G
Srp14
signal recognition particle 14
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:105,442,184...105,445,875
Ensembl chr 3:105,442,198...105,445,859
G
Stard5
StAR-related lipid transfer domain containing 5
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:137,606,151...137,616,017
Ensembl chr 1:137,606,177...137,616,469
G
Stard9
StAR-related lipid transfer domain containing 9
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:107,581,097...107,672,746
Ensembl chr 3:107,581,164...107,673,898
G
Stoml1
stomatin like 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:58,661,980...58,669,860
Ensembl chr 8:58,661,992...58,669,860
G
Stra6
signaling receptor and transporter of retinol STRA6
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:58,548,899...58,568,861
Ensembl chr 8:58,549,736...58,568,860
G
Strc
stereocilin
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:108,335,920...108,355,114
Ensembl chr 3:108,335,747...108,354,134
G
Tbc1d21
TBC1 domain family, member 21
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:58,761,562...58,773,711
Ensembl chr 8:58,761,563...58,773,711
G
Tbc1d2b
TBC1 domain family, member 2B
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:90,746,220...90,814,867
Ensembl chr 8:90,746,233...90,814,832
G
Tcf12
transcription factor 12
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:72,490,447...72,799,265
Ensembl chr 8:72,492,567...72,799,201
G
Terb2
telomere repeat binding bouquet formation protein 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:109,138,343...109,156,700
Ensembl chr 3:109,138,343...109,156,683
G
Tex9
testis expressed 9
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:73,168,519...73,213,935
Ensembl chr 8:73,177,810...73,214,261
G
Tgm5
transglutaminase 5
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:108,008,087...108,044,013
Ensembl chr 3:108,008,143...108,043,976
G
Tgm7
transglutaminase 7
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:108,051,890...108,068,116
Ensembl chr 3:108,051,890...108,076,239
G
Thbs1
thrombospondin 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:105,056,293...105,071,445
Ensembl chr 3:105,056,292...105,071,440
G
Thsd4
thrombospondin type 1 domain containing 4
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:60,384,636...60,984,419
Ensembl chr 8:60,386,875...61,024,995
G
Ticrr
TOPBP1-interacting checkpoint and replication regulator
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:17407155 PMID:28492532
NCBI chr 1:133,597,618...133,639,513
Ensembl chr 1:133,597,716...133,639,523
G
Tipin
timeless interacting protein
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:64,780,813...64,801,358
Ensembl chr 8:64,780,828...64,801,352 Ensembl chr 9:64,780,828...64,801,352
G
Tle3
TLE family member 3, transcriptional corepressor
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:61,857,791...61,903,505
Ensembl chr 8:61,858,200...61,903,493
G
Tln2
talin 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:67,830,920...68,252,240
Ensembl chr 8:67,834,326...68,252,219
G
Tlnrd1
talin rod domain containing 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:137,864,340...137,866,359
Ensembl chr 1:137,864,343...137,866,359
G
Tm6sf1
transmembrane 6 superfamily member 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:135,799,844...135,828,515
Ensembl chr 1:135,786,381...135,828,443
G
Tmc3
transmembrane channel-like 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:137,552,347...137,597,477
Ensembl chr 1:137,552,455...137,597,633
G
Tmco5a
transmembrane and coiled-coil domains 5A
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:103,732,936...103,746,242
Ensembl chr 3:103,732,945...103,746,249
G
Tmed3
transmembrane p24 trafficking protein 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:90,241,516...90,249,429
Ensembl chr 8:90,241,516...90,249,346
G
Tmem202
transmembrane protein 202
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:59,910,824...59,919,342
Ensembl chr 8:59,910,824...59,916,609
G
Tmem266
transmembrane protein 266
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:55,707,122...55,820,692
Ensembl chr 8:55,707,122...55,820,692
G
Tmem62
transmembrane protein 62
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:107,921,940...107,961,830
Ensembl chr 3:107,927,307...107,961,795
G
Tmem87a
transmembrane protein 87A
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:107,307,726...107,353,571
Ensembl chr 3:107,307,726...107,353,551
G
Tmod2
tropomodulin 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:76,316,736...76,366,003
Ensembl chr 8:76,325,667...76,365,720
G
Tmod3
tropomodulin 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:76,248,978...76,310,855
Ensembl chr 8:76,248,979...76,310,977
G
Tnfaip8l3
TNF alpha induced protein 8 like 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:54,413,503...54,455,512
Ensembl chr 8:54,414,457...54,500,079
G
Tp53bp1
tumor protein p53 binding protein 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:108,166,574...108,270,229
Ensembl chr 3:108,169,980...108,269,822
G
Tpm1
tropomyosin 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802
G
Trim69
tripartite motif-containing 69
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:109,111,468...109,135,255
Ensembl chr 3:109,111,468...109,132,037
G
Trip4
thyroid hormone receptor interactor 4
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:66,351,861...66,439,679
Ensembl chr 8:66,353,248...66,439,774
G
Trpm7
transient receptor potential cation channel, subfamily M, member 7
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:114,046,258...114,134,799
Ensembl chr 3:114,046,258...114,135,190
G
Tspan3
tetraspanin 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:56,546,067...56,569,815
Ensembl chr 8:56,546,069...56,569,880
G
Ttbk2
tau tubulin kinase 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:107,691,123...107,802,911
Ensembl chr 3:107,697,340...107,803,223
G
Tubgcp4
tubulin gamma complex component 4
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:108,141,081...108,172,207
Ensembl chr 3:108,141,625...108,169,437
G
Tyro3
TYRO3 protein tyrosine kinase
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,777,686...106,797,154
Ensembl chr 3:106,777,635...106,797,142
G
Uaca
uveal autoantigen with coiled-coil domains and ankyrin repeats
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:61,259,415...61,347,789
Ensembl chr 8:61,259,477...61,347,789
G
Ubap1l
ubiquitin associated protein 1-like
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:65,877,488...65,897,593
Ensembl chr 8:65,884,729...65,897,593
G
Ube2q2
ubiquitin conjugating enzyme E2 Q2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:55,518,402...55,578,342
Ensembl chr 8:55,519,147...55,577,212
G
Ubl7
ubiquitin-like 7
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:58,321,279...58,340,353
Ensembl chr 8:58,320,866...58,340,344
G
Ubr1
ubiquitin protein ligase E3 component n-recognin 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:107,813,721...107,921,701
Ensembl chr 3:107,811,392...107,922,204
G
Ulk3
unc-51 like kinase 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:57,992,396...58,000,220
Ensembl chr 8:57,992,723...57,999,467
G
Unc13c
unc-13 homolog C
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:74,247,026...74,697,629
Ensembl chr 8:74,247,899...74,673,223
G
Unc45a
unc-45 myosin chaperone A
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:134,281,930...134,296,661
Ensembl chr 1:134,281,933...134,301,586
G
Ung
uracil-DNA glycosylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2106500
NCBI chr12:42,485,276...42,494,217
Ensembl chr12:42,485,276...42,494,206
G
Usp3
ubiquitin specific peptidase 3
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:67,078,249...67,154,109
Ensembl chr 8:67,079,927...67,154,111
G
Usp50
ubiquitin specific peptidase 50
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:114,012,104...114,035,468
Ensembl chr 3:114,011,702...114,035,476
G
Usp8
ubiquitin specific peptidase 8
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:113,962,136...114,009,683
Ensembl chr 3:113,962,164...114,009,666
G
Vps13c
vacuolar protein sorting 13 homolog C
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:68,478,366...68,651,893
Ensembl chr 8:68,478,395...68,651,895
G
Vps18
VPS18 core subunit of CORVET and HOPS complexes
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,279,444...106,290,298
Ensembl chr 3:106,279,425...106,291,964
G
Vps39
VPS39 subunit of HOPS complex
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:107,266,846...107,304,884
Ensembl chr 3:107,267,310...107,304,975
G
Wdr72
WD repeat domain 72
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:74,838,338...75,020,938
Ensembl chr 8:74,838,318...75,018,229
G
Wdr73
WD repeat domain 73
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:134,860,329...134,868,475
Ensembl chr 1:134,860,180...134,868,479
G
Wdr76
WD repeat domain 76
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:108,456,784...108,491,528
Ensembl chr 3:108,456,815...108,490,840
G
Wdr93
WD repeat domain 93
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:17407155 PMID:28492532
NCBI chr 1:133,687,254...133,737,449
Ensembl chr 1:133,687,248...133,733,630
G
Whamm
WASP homolog associated with actin, golgi membranes and microtubules
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:135,526,363...135,557,091
Ensembl chr 1:135,526,386...135,554,759
G
Zfand6
zinc finger AN1-type containing 6
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:138,581,002...138,652,052
Ensembl chr 1:138,581,002...138,651,939
G
Zfp106
zinc finger protein 106
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:107,459,232...107,510,507
Ensembl chr 3:107,462,096...107,510,481
G
Zfp280d
zinc finger protein 280D
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:72,992,655...73,080,482
Ensembl chr 8:72,992,650...73,080,480
G
Zfp592
zinc finger protein 592
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:134,951,286...135,002,443
Ensembl chr 1:134,967,783...135,002,443
G
Zfp609
zinc finger protein 609
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:66,214,553...66,349,319
Ensembl chr 8:66,214,555...66,317,977
G
Zfp710
zinc finger protein 710
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:17407155 PMID:28492532
NCBI chr 1:133,966,256...134,036,593
Ensembl chr 1:134,024,267...134,036,601
G
Zfp770
zinc finger protein 770
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:100,963,430...100,971,663
Ensembl chr 3:100,963,427...100,971,684
G
Zfyve19
zinc finger FYVE-type containing 19
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:106,195,779...106,203,969
Ensembl chr 3:106,195,899...106,203,969
G
Zscan2
zinc finger and SCAN domain containing 2
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 1:134,833,701...134,848,957
Ensembl chr 1:134,833,871...134,848,952
G
Zscan29-ps1
zinc finger and SCAN domain containing 29, pseudogene 1
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 3:108,136,468...108,140,431
G
Zwilch
zwilch kinetochore protein
ISO
ClinVar Annotator: match by term: Bloom syndrome
ClinVar
PMID:28492532
NCBI chr 8:64,638,401...64,670,911
Ensembl chr 8:64,637,672...64,675,916
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 PMID:37013609
NCBI chr10:45,419,219...45,457,356
Ensembl chr10:45,419,217...45,457,559
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
19099
syndrome
11271
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange
465
Bloom syndrome
464
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2
1
Path 2
disease
19099
Developmental Disease
14598
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
13613
genetic disease
13275
monogenic disease
10822
autosomal genetic disease
10303
autosomal dominant disease
6647
complex cortical dysplasia with other brain malformations
1633
Malformations of Cortical Development, Group I
1393
microcephaly
1142
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange
465
Bloom syndrome
464
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2
1