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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Craniofacial Abnormalities
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Accession:DOID:9008731 term browser browse the term
Definition:Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.
Synonyms:exact_synonym: Craniofacial Abnormality
 primary_id: MESH:D019465;   RDO:0000261
For additional species annotation, visit the Alliance of Genome Resources.


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Craniofacial Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actb actin, beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:22366783 NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877
JBrowse link
G Actg1 actin, gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22366783 NCBI chr10:105,619,738...105,622,587
Ensembl chr10:105,619,737...105,624,232
JBrowse link
G Alx1 ALX homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9847249 NCBI chr 7:38,157,626...38,177,220
Ensembl chr 7:38,147,117...38,177,220
JBrowse link
G Alx4 ALX homeobox 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9847249 NCBI chr 3:79,611,682...79,648,260
Ensembl chr 3:79,611,719...79,648,260
JBrowse link
G Ankh ANKH inorganic pyrophosphate transport regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:18027777 NCBI chr 2:78,153,027...78,280,181
Ensembl chr 2:78,153,026...78,280,187
JBrowse link
G Anxa1 annexin A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17405164 NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
JBrowse link
G Apaf1 apoptotic peptidase activating factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9753320 PMID:9753321 NCBI chr 7:25,494,143...25,579,540
Ensembl chr 7:25,494,609...25,579,540
JBrowse link
G Atp6ap2 ATPase H+ transporting accessory protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16759393 NCBI chr  X:10,183,983...10,210,948
Ensembl chr  X:10,183,068...10,210,918
JBrowse link
G Atrx ATRX, chromatin remodeler ISO CTD Direct Evidence: marker/mechanism CTD PMID:19291773 NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330
JBrowse link
G B3gat3 beta-1,3-glucuronyltransferase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16759393 NCBI chr 1:205,817,374...205,823,928 JBrowse link
G B4galt7 beta-1,4-galactosyltransferase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16759393 NCBI chr17:9,018,514...9,027,591
Ensembl chr17:9,018,935...9,027,573
JBrowse link
G Bmpr1a bone morphogenetic protein receptor type 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15804571 NCBI chr16:9,736,390...9,829,825
Ensembl chr16:9,736,630...9,780,616
JBrowse link
G Bmpr1b bone morphogenetic protein receptor type 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15804571 NCBI chr 2:230,538,252...230,871,077
Ensembl chr 2:230,541,558...230,871,368
JBrowse link
G Bnc2 basonuclin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19706529 NCBI chr 5:98,679,071...99,079,742
Ensembl chr 5:98,687,410...99,079,426
JBrowse link
G Chst14 carbohydrate sulfotransferase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20842734 NCBI chr 3:105,916,481...105,918,538
Ensembl chr 3:105,916,466...105,918,548
JBrowse link
G Cntn4 contactin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15106122 NCBI chr 4:138,624,584...139,622,499
Ensembl chr 4:139,099,152...139,621,090
JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:19638309 NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853
JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:16637051 NCBI chr20:4,786,929...4,816,598
Ensembl chr20:4,786,929...4,815,985
JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:9061443 PMID:15562585 NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546
JBrowse link
G Colec11 collectin sub-family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr 6:45,223,974...45,256,640
Ensembl chr 6:45,223,980...45,271,145
JBrowse link
G Csnk1a1 casein kinase 1, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16759393 NCBI chr18:55,017,049...55,050,184
Ensembl chr18:55,017,055...55,049,271
JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11262227 NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
JBrowse link
G Dcaf7 DDB1 and CUL4 associated factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16759393 NCBI chr10:90,974,095...90,996,275
Ensembl chr10:90,974,095...90,996,275
JBrowse link
G Dll3 delta like canonical Notch ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17849441 NCBI chr 1:83,562,011...83,570,008
Ensembl chr 1:83,562,014...83,569,750
JBrowse link
G Dlx1 distal-less homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9187081 NCBI chr 3:56,356,190...56,360,780
Ensembl chr 3:56,356,190...56,360,780
JBrowse link
G Dlx2 distal-less homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9187081 NCBI chr 3:56,371,347...56,373,230
Ensembl chr 3:56,370,483...56,373,597
JBrowse link
G Dlx5 distal-less homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10433909 PMID:10433912 PMID:14666512 NCBI chr 4:34,999,139...35,003,504
Ensembl chr 4:34,999,139...35,003,407
JBrowse link
G Dlx6 distal-less homeobox 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14666512 NCBI chr 4:34,984,264...34,989,926 JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:24614070 NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
JBrowse link
G Dnmt3b DNA methyltransferase 3 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17908720 NCBI chr 3:142,130,592...142,169,124
Ensembl chr 3:142,130,592...142,169,124
JBrowse link
G Ece1 endothelin converting enzyme 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9449665 NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371
JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8152482 PMID:9671575 PMID:10100047 PMID:20707411 PMID:8152482 RGD:734913 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
JBrowse link
G Ednra endothelin receptor type A ISO CTD Direct Evidence: marker/mechanism CTD PMID:9811577 PMID:17294360 NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10319864 NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
JBrowse link
G Ep300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26921506 NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18628313 NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
JBrowse link
G Erf Ets2 repressor factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23354439 NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388
JBrowse link
G Ets2 ETS proto-oncogene 2, transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19764029 NCBI chr11:35,021,536...35,038,322
Ensembl chr11:35,021,596...35,038,319
JBrowse link
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10471511 NCBI chr 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483
JBrowse link
G Fadd Fas associated via death domain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17656375 NCBI chr 1:199,743,200...199,745,746
Ensembl chr 1:199,739,994...199,745,653
JBrowse link
G Fam83h family with sequence similarity 83, member H ISO CTD Direct Evidence: marker/mechanism CTD PMID:19407157 NCBI chr 7:107,716,431...107,724,619
Ensembl chr 7:107,716,431...107,728,672
JBrowse link
G Fgd1 FYVE, RhoGEF and PH domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7954831 NCBI chr  X:20,023,746...20,066,730
Ensembl chr  X:20,023,746...20,066,566
JBrowse link
G Fgf3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17656375 NCBI chr 1:200,001,261...200,005,187
Ensembl chr 1:200,001,261...200,005,187
JBrowse link
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16720880 NCBI chr 1:244,584,477...244,590,359
Ensembl chr 1:244,584,652...244,590,359
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.P250R (mouse)
CTD PMID:12514106 PMID:21538817 RGD:11251832 NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.S250W (mouse)
CTD PMID:10631169 PMID:16465081 PMID:18082115 PMID:21538817 RGD:11251832 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
G Fmr1 FMRP translational regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17065172 PMID:22043169 NCBI chr  X:147,240,239...147,278,057
Ensembl chr  X:147,240,301...147,278,050
JBrowse link
G Folr1 folate receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15800851 NCBI chr 1:156,219,460...156,238,436
Ensembl chr 1:156,219,460...156,230,667
JBrowse link
G Foxc2 forkhead box C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9106663 PMID:9409679 NCBI chr19:49,186,034...49,188,736
Ensembl chr19:49,185,662...49,188,737
JBrowse link
G Foxi1 forkhead box I1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16759393 NCBI chr10:18,806,292...18,810,231
Ensembl chr10:18,806,308...18,810,231
JBrowse link
G Foxp2 forkhead box P2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17033973 NCBI chr 4:43,133,827...43,712,442
Ensembl chr 4:43,133,912...43,711,683
JBrowse link
G Frem1 Fras1 related extracellular matrix 1 ISO DNA:missense mutation:cds:c.1687A>T c (p.I563F)(mouse) RGD PMID:23536828 RGD:11554185 NCBI chr 5:97,321,275...97,469,523
Ensembl chr 5:97,322,538...97,469,543
JBrowse link
G Fzd4 frizzled class receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17103440 NCBI chr 1:143,280,065...143,288,799
Ensembl chr 1:143,280,065...143,285,724
JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15878204 NCBI chr 1:108,467,047...108,702,522
Ensembl chr 1:108,296,124...108,698,961
JBrowse link
G Gata2 GATA binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20707411 NCBI chr 4:120,654,205...120,667,763
Ensembl chr 4:120,658,986...120,667,761
JBrowse link
G Gna11 G protein subunit alpha 11 ISO RGD PMID:9687499 RGD:737757 NCBI chr 7:8,163,752...8,177,636
Ensembl chr 7:8,162,750...8,179,812
JBrowse link
G Gnaq G protein subunit alpha q ISO CTD Direct Evidence: marker/mechanism CTD PMID:9687499 PMID:9687499 RGD:737757 NCBI chr 1:213,425,631...213,671,947
Ensembl chr 1:213,424,465...213,667,672
JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:15213848 NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392
JBrowse link
G Gpc4 glypican 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16759393 NCBI chr  X:131,644,711...131,755,349
Ensembl chr  X:131,644,704...131,755,284
JBrowse link
G Gpc6 glypican 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19481194 NCBI chr15:94,030,218...95,027,883
Ensembl chr15:94,029,884...95,024,006
JBrowse link
G Gsc goosecoid homeobox ISO CTD Direct Evidence: marker/mechanism CTD PMID:10433910 NCBI chr 6:123,388,072...123,390,111
Ensembl chr 6:123,388,072...123,390,111
JBrowse link
G Gtf2ird1 GTF2I repeat domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20007321 NCBI chr12:22,254,113...22,361,052
Ensembl chr12:22,254,221...22,361,040
JBrowse link
G H4c3 H4 clustered histone 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28920961
G Hapln1 hyaluronan and proteoglycan link protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9988279 NCBI chr 2:20,631,640...20,696,388
Ensembl chr 2:20,631,640...20,693,777
JBrowse link
G Hmx1 H6 family homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19379485 NCBI chr14:75,361,207...75,364,993
Ensembl chr14:75,361,225...75,364,993
JBrowse link
G Hoxa1 homeobox A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10529420 NCBI chr 4:81,255,814...81,258,504
Ensembl chr 4:81,255,883...81,258,504
JBrowse link
G Hoxa3 homeobox A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1673020 NCBI chr 4:81,269,243...81,313,218
Ensembl chr 4:81,269,243...81,313,218
JBrowse link
G Hoxb1 homeo box B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10529420 NCBI chr10:81,331,507...81,332,928
Ensembl chr10:81,331,507...81,332,836
JBrowse link
G Hspg2 heparan sulfate proteoglycan 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10545953 NCBI chr 5:149,677,437...149,778,594 JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27469509 NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
JBrowse link
G Irf6 interferon regulatory factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17041601 NCBI chr13:104,672,179...104,691,386
Ensembl chr13:104,672,179...104,691,386
JBrowse link
G Irx5 iroquois homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581230 NCBI chr19:14,639,052...14,643,911
Ensembl chr19:14,624,225...14,642,318
JBrowse link
G Itgb1bp1 integrin subunit beta 1 binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17567669 NCBI chr 6:40,820,693...40,836,074
Ensembl chr 6:40,821,339...40,836,037
JBrowse link
G Jag2 jagged canonical Notch ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9531541 NCBI chr 6:131,983,056...132,005,359
Ensembl chr 6:131,983,056...132,005,818
JBrowse link
G Kansl1 KAT8 regulatory NSL complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22544363 PMID:22544367 NCBI chr10:89,237,667...89,368,735
Ensembl chr10:89,237,667...89,366,951
JBrowse link
G Kif3a kinesin family member 3a ISO CTD Direct Evidence: marker/mechanism CTD PMID:17698054 NCBI chr10:37,725,930...37,761,183
Ensembl chr10:37,725,970...37,759,191
JBrowse link
G Letm1 leucine zipper and EF-hand containing transmembrane protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14706454 NCBI chr14:76,942,647...76,982,220
Ensembl chr14:76,942,729...76,984,904
JBrowse link
G Lmna lamin A/C ISO CTD Direct Evidence: marker/mechanism CTD PMID:15726408 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
G LOC690035 similar to Protein KIAA0586 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15554946 NCBI chr 6:89,622,711...89,725,951
Ensembl chr 6:89,623,699...89,725,962
JBrowse link
G Lpar1 lysophosphatidic acid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11087877 NCBI chr 5:73,229,047...73,347,874
Ensembl chr 5:73,229,625...73,369,895
JBrowse link
G Lrp2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632512 NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708
JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11790802 PMID:12379497 NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
JBrowse link
G Masp1 MBL associated serine protease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr11:77,334,794...77,405,271
Ensembl chr11:77,334,859...77,402,974
JBrowse link
G Mbtps1 membrane-bound transcription factor peptidase, site 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16759393 NCBI chr19:47,561,598...47,612,769
Ensembl chr19:47,561,598...47,612,791
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19559301 NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689
JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17728286 NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17400654 PMID:17440987 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Mnt MAX network transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15028671 NCBI chr10:59,699,208...59,714,848
Ensembl chr10:59,699,585...59,714,835
JBrowse link
G Msl3 MSL complex subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30224647 NCBI chr  X:25,638,029...25,655,698
Ensembl chr  X:25,637,804...25,655,697
JBrowse link
G Msx1 msh homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12163415 PMID:14630905 PMID:14654219 PMID:15301380 NCBI chr14:72,961,170...72,964,970
Ensembl chr14:72,961,148...72,964,966
JBrowse link
G Msx2 msh homeobox 2 ISO parietal foramina, OMIM:168500, DNA:point mutation:exon: R172H, DNA:deletions
CTD Direct Evidence: marker/mechanism
CTD PMID:9147639 PMID:10742103 RGD:1600492 NCBI chr17:11,097,214...11,102,879
Ensembl chr17:11,097,103...11,102,879
JBrowse link
G Mthfd1l methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like ISO RGD PMID:23267094 RGD:12914149 NCBI chr 1:40,443,926...40,632,911
Ensembl chr 1:40,444,008...40,632,905
JBrowse link
G Ndst1 N-deacetylase and N-sulfotransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16020517 NCBI chr18:54,136,887...54,199,545
Ensembl chr18:54,140,779...54,178,191
JBrowse link
G Nipbl NIPBL, cohesin loading factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19763162 NCBI chr 2:57,399,443...57,586,770
Ensembl chr 2:57,399,445...57,565,899
JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17849441 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
JBrowse link
G Nrxn1 neurexin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18057082 NCBI chr 6:3,177,788...4,323,848
Ensembl chr 6:3,177,897...4,322,710
JBrowse link
G Pax3 paired box 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14556253 NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042
JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7559133 PMID:9079035 PMID:9363853 NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
JBrowse link
G Pbx4 PBX homeobox 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16759393 NCBI chr16:19,555,089...19,590,054
Ensembl chr16:19,555,090...19,590,014
JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11023856 NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
JBrowse link
G Phex phosphate regulating endopeptidase homolog, X-linked ISO CTD Direct Evidence: marker/mechanism CTD PMID:1962291 NCBI chr  X:37,607,553...37,856,183
Ensembl chr  X:37,610,760...37,854,469
JBrowse link
G Pitx2 paired-like homeodomain 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10499585 PMID:14623826 NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
JBrowse link
G Prkra protein activator of interferon induced protein kinase EIF2AK2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22194846 NCBI chr 3:61,575,447...61,594,393
Ensembl chr 3:61,575,447...61,594,347
JBrowse link
G Ptch1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16405370 PMID:18539553 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:9286463 PMID:14574156 PMID:17427195 PMID:18759867 PMID:19265751 More... NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Rad23b RAD23 homolog B, nucleotide excision repair protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11809813 NCBI chr 5:70,090,232...70,128,340
Ensembl chr 5:70,090,232...70,128,319
JBrowse link
G Rai1 retinoic acid induced 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19116176 NCBI chr10:44,913,231...45,008,232
Ensembl chr10:44,947,909...45,008,232
JBrowse link
G Rax retina and anterior neural fold homeobox ISO CTD Direct Evidence: marker/mechanism CTD PMID:15789424 NCBI chr18:59,463,737...59,467,431
Ensembl chr18:59,463,737...59,467,431
JBrowse link
G Rcan1 regulator of calcineurin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15906378 NCBI chr11:31,622,208...31,702,150
Ensembl chr11:31,622,210...31,702,045
JBrowse link
G Rdh10 retinol dehydrogenase 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793605 NCBI chr 5:3,186,671...3,215,572
Ensembl chr 5:3,188,445...3,215,572
JBrowse link
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:31570889 NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
JBrowse link
G Runx2 RUNX family transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14688224 NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167
JBrowse link
G Ryk receptor-like tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10932185 NCBI chr 8:103,419,348...103,492,083
Ensembl chr 8:103,419,275...103,491,698
JBrowse link
G Sall3 spalt-like transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15282310 NCBI chr18:74,406,058...74,425,754
Ensembl chr18:74,407,560...74,426,789
JBrowse link
G Sall4 spalt-like transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16402211 NCBI chr 3:157,474,067...157,491,055
Ensembl chr 3:157,474,642...157,490,822
JBrowse link
G Satb2 SATB homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16960803 NCBI chr 9:58,348,027...58,534,256
Ensembl chr 9:58,350,246...58,530,707
JBrowse link
G Sec61a1 SEC61 translocon subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16759393 NCBI chr 4:120,973,519...120,987,871
Ensembl chr 4:120,960,626...120,987,925
JBrowse link
G Setbp1 SET binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20436468 NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556
JBrowse link
G Sh3pxd2b SH3 and PX domains 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19669234 NCBI chr10:16,918,611...17,027,499
Ensembl chr10:16,918,679...17,005,170
JBrowse link
G Sim2 SIM bHLH transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12203729 NCBI chr11:33,414,218...33,453,663
Ensembl chr11:33,414,218...33,453,663
JBrowse link
G Sin3a SIN3 transcription regulator family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27399968 NCBI chr 8:57,481,539...57,536,195
Ensembl chr 8:57,481,573...57,536,192
JBrowse link
G Six1 SIX homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12834866 NCBI chr 6:91,746,739...91,751,975
Ensembl chr 6:91,746,739...91,751,975
JBrowse link
G Ski SKI proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:9284043 NCBI chr 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733
JBrowse link
G Slc26a2 solute carrier family 26 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18925670 NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626
JBrowse link
G Slc35d1 solute carrier family 35 member D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16759393 NCBI chr 5:117,928,628...117,981,289
Ensembl chr 5:117,934,352...117,981,311
JBrowse link
G Smad2 SMAD family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9655392 PMID:15183723 NCBI chr18:69,849,884...69,918,926
Ensembl chr18:69,850,377...69,912,323
JBrowse link
G Smad3 SMAD family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15183723 PMID:21217753 NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
JBrowse link
G Smad4 SMAD family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22158539 NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
JBrowse link
G Sox9 SRY-box transcription factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11807034 NCBI chr10:97,806,485...97,811,994
Ensembl chr10:97,806,485...97,811,994
JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17576140 NCBI chr15:82,692,312...82,697,408
Ensembl chr15:82,692,143...82,698,009
JBrowse link
G Srp68 signal recognition particle 68 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16759393 NCBI chr10:101,481,213...101,508,035
Ensembl chr10:101,481,212...101,508,035
JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18316031 NCBI chr 8:58,549,743...58,568,861
Ensembl chr 8:58,549,736...58,568,860
JBrowse link
G Surf1 SURF1, cytochrome c oxidase assembly factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16765830 NCBI chr 3:10,241,793...10,244,686
Ensembl chr 3:10,241,837...10,263,315
JBrowse link
G Tbce tubulin folding cofactor E ISO CTD Direct Evidence: marker/mechanism CTD PMID:12389028 NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
JBrowse link
G Tbx1 T-box transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15190012 PMID:17000704 NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
JBrowse link
G Tbx15 T-box transcription factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19068278 NCBI chr 2:186,576,347...186,687,748
Ensembl chr 2:186,576,676...186,687,663
JBrowse link
G Tcf4 transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436254 NCBI chr18:62,941,739...63,288,126
Ensembl chr18:62,943,782...63,284,425
JBrowse link
G Tcof1 treacle ribosome biogenesis factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16938878 NCBI chr18:54,267,015...54,300,324
Ensembl chr18:54,267,026...54,300,324
JBrowse link
G Tfap2a transcription factor AP-2 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:14534133 PMID:19685247 NCBI chr17:24,028,716...24,047,507
Ensembl chr17:24,024,432...24,047,507
JBrowse link
G Tfap2b transcription factor AP-2 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:10802654 NCBI chr 9:21,786,250...21,815,785
Ensembl chr 9:21,786,258...21,814,520
JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9217007 NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16368934 PMID:16885183 NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
JBrowse link
G Thrb thyroid hormone receptor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:10660344 NCBI chr15:7,685,180...8,031,920
Ensembl chr15:7,685,180...7,882,916
JBrowse link
G Tmco1 transmembrane and coiled-coil domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20018682 NCBI chr13:79,460,229...79,483,557
Ensembl chr13:79,460,135...79,483,555
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9493073 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Tp63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10227294 NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
JBrowse link
G Trim37 tripartite motif-containing 37 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14757854 NCBI chr10:71,943,384...72,075,567
Ensembl chr10:71,943,375...72,075,558
JBrowse link
G Trps1 transcriptional repressor GATA binding 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11708946 PMID:19759027 NCBI chr 7:81,916,668...82,142,733
Ensembl chr 7:81,921,601...82,141,905
JBrowse link
G Ube3a ubiquitin protein ligase E3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15878204 NCBI chr 1:110,070,260...110,161,675
Ensembl chr 1:110,070,480...110,157,250
JBrowse link
G Ufd1 ubiquitin recognition factor in ER associated degradation 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10024240 NCBI chr11:82,161,618...82,185,107
Ensembl chr11:82,161,619...82,185,087
JBrowse link
G Unc45b unc-45 myosin chaperone B ISO CTD Direct Evidence: marker/mechanism CTD PMID:17189627 NCBI chr10:67,845,382...67,873,389
Ensembl chr10:67,845,462...67,873,389
JBrowse link
G Uxs1 UDP-glucuronate decarboxylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16759393 NCBI chr 9:653,740...731,121
Ensembl chr 9:653,659...756,334
JBrowse link
G Vsx1 visual system homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15051220 NCBI chr 3:139,514,270...139,521,869
Ensembl chr 3:139,514,270...139,521,869
JBrowse link
G Zic3 Zic family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17127413 NCBI chr  X:136,123,662...136,134,295
Ensembl chr  X:136,124,026...136,134,746
JBrowse link
G Zic5 Zic family member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15136147 NCBI chr15:99,558,229...99,567,035
Ensembl chr15:99,560,323...99,567,035
JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17152860 NCBI chr 5:134,627,218...134,660,360
Ensembl chr 5:134,627,229...134,660,110
JBrowse link
22q11 Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12223415 NCBI chr 1:244,584,477...244,590,359
Ensembl chr 1:244,584,652...244,590,359
JBrowse link
G Six1 SIX homeobox 1 ISO RGD PMID:21364285 RGD:11561941 NCBI chr 6:91,746,739...91,751,975
Ensembl chr 6:91,746,739...91,751,975
JBrowse link
3MC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Craniofacial-ulnar-renal syndrome ClinVar NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
JBrowse link
3MC syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
JBrowse link
G Ahsg alpha-2-HS-glycoprotein ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr11:78,117,903...78,145,956 JBrowse link
G Colec11 collectin sub-family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr 6:45,223,974...45,256,640
Ensembl chr 6:45,223,980...45,271,145
JBrowse link
G Crygs crystallin, gamma S ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr11:78,207,170...78,212,273
Ensembl chr11:78,207,170...78,212,273
JBrowse link
G Dnajb11 DnaJ heat shock protein family (Hsp40) member B11 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr11:78,151,750...78,168,259
Ensembl chr11:78,150,429...78,180,407
JBrowse link
G Eif4a2 eukaryotic translation initiation factor 4A2 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr11:77,764,126...77,770,810
Ensembl chr11:77,764,124...77,770,781
JBrowse link
G Fetub fetuin B ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr11:78,082,158...78,093,022
Ensembl chr11:78,082,156...78,095,135
JBrowse link
G Hrg histidine-rich glycoprotein ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr11:78,054,488...78,069,402
Ensembl chr11:78,054,498...78,069,389
JBrowse link
G Kng2 kininogen 2 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr11:77,913,876...77,936,247 JBrowse link
G Masp1 MBL associated serine protease 1 ISO ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by OMIM:257920
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:17937425 PMID:18266249 PMID:21035106 PMID:21258343 PMID:22966085 More... NCBI chr11:77,334,794...77,405,271
Ensembl chr11:77,334,859...77,402,974
JBrowse link
G Rfc4 replication factor C subunit 4 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr11:77,749,642...77,764,123
Ensembl chr11:77,749,638...77,764,122
JBrowse link
G Rpl39l ribosomal protein L39-like ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr10:5,455,712...5,459,828
Ensembl chr10:5,454,559...5,462,029
JBrowse link
G Rtp1 receptor (chemosensory) transporter protein 1 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr11:77,422,982...77,425,498
Ensembl chr11:77,422,982...77,425,498
JBrowse link
G St6gal1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr11:77,526,837...77,653,474
Ensembl chr11:77,526,837...77,653,310
JBrowse link
G Tbccd1 TBCC domain containing 1 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr11:78,168,386...78,205,314
Ensembl chr11:78,168,388...78,205,523
JBrowse link
3MC syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Colec11 collectin sub-family member 11 ISO ClinVar Annotator: match by term: Carnevale syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:265050
OMIM
ClinVar
CTD
PMID:2569826 PMID:8933348 PMID:21258343 PMID:25741868 NCBI chr 6:45,223,974...45,256,640
Ensembl chr 6:45,223,980...45,271,145
JBrowse link
G Masp1 MBL associated serine protease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr11:77,334,794...77,405,271
Ensembl chr11:77,334,859...77,402,974
JBrowse link
G Slc26a2 solute carrier family 26 member 2 ISO ClinVar Annotator: match by term: OSA syndrome ClinVar PMID:7923357 PMID:8528239 PMID:8571951 PMID:8931695 PMID:9342225 More... NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626
JBrowse link
3MC syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Colec10 collectin subfamily member 10 ISO ClinVar Annotator: match by term: Malpuech facial clefting syndrome ClinVar
OMIM
PMID:28301481 NCBI chr 7:85,744,895...85,806,368
Ensembl chr 7:85,744,895...85,805,675
JBrowse link
G Colec11 collectin sub-family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr 6:45,223,974...45,256,640
Ensembl chr 6:45,223,980...45,271,145
JBrowse link
G Masp1 MBL associated serine protease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr11:77,334,794...77,405,271
Ensembl chr11:77,334,859...77,402,974
JBrowse link
Abruzzo-Erickson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx22 T-box transcription factor 22 ISO ClinVar Annotator: match by OMIM:302905 OMIM
ClinVar
PMID:839509 PMID:22784330 NCBI chr  X:72,723,619...72,774,647
Ensembl chr  X:72,723,617...72,774,647
JBrowse link
acrocephalosyndactylia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 Fibroblast growth factor receptor 1 ISO DNA:missense mutation: :p.P252R (human) RGD PMID:7874169 PMID:25251565 RGD:11567243, RGD:11567271 NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 severity
treatment
ISO ClinVar Annotator: match by term: Acrocephalosyndactyly type I
ClinVar Annotator: match by term: Craniofacial-skeletal-dermatologic dysplasia
ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly
ClinVar Annotator: match by term: Apert syndrome
ClinVar Annotator: match by term: Saethre-Chotzen syndrome
DNA:missense mutation:cds:p.P253R (human)
DNA:missense mutation:cds:p.A172F (human)
DNA:missense mutations:cds:p.S252W, p.P253R (human)
ClinVar Annotator: match by OMIM:101200
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:
OMIM
ClinVar
CTD
PMID:7558045 PMID:7607643 PMID:7655462 PMID:7668257 PMID:7719344 More... RGD:12801488, RGD:12801475, RGD:12801474, RGD:12801413, RGD:8547743 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO SCS,OMIM:101400;DNA:point mutation:exon:Y103X,Q119P
CTD Direct Evidence: marker/mechanism
CTD PMID:15923834 PMID:23354436 PMID:8988166 RGD:1624353 NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653
JBrowse link
acrofacial dysostosis Cincinnati type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr1a RNA polymerase I subunit A ISO ClinVar Annotator: match by term: Acrofacial dysostosis, Cincinnati type OMIM
ClinVar
PMID:25741868 PMID:25913037 PMID:28492532 NCBI chr 4:103,950,051...104,014,022
Ensembl chr 4:103,950,051...104,014,020
JBrowse link
acromelic frontonasal dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zswim6 zinc finger, SWIM-type containing 6 ISO ClinVar Annotator: match by term: Acromelic frontonasal dysostosis OMIM
ClinVar
PMID:25105228 PMID:25741868 PMID:26706854 PMID:28492532 NCBI chr 2:39,211,131...39,378,877
Ensembl chr 2:39,212,949...39,378,924
JBrowse link
agnathia-otocephaly complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxh1 forkhead box H1 ISS OMIM:202650 MouseDO NCBI chr 7:108,387,969...108,391,566
Ensembl chr 7:108,387,969...108,390,049
JBrowse link
G Prrx1 paired related homeobox 1 ISO ClinVar Annotator: match by term: Agnathia-otocephaly complex
ClinVar Annotator: match by term: Dysgnathia complex
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:202650
OMIM
ClinVar
CTD
PMID:12244557 PMID:21294718 PMID:22211708 PMID:22674740 PMID:23444262 More... NCBI chr13:75,600,777...75,671,896
Ensembl chr13:75,601,706...75,670,866
JBrowse link
G Trappc10 trafficking protein particle complex subunit 10 ISS OMIM:202650 MouseDO NCBI chr20:10,438,737...10,499,074
Ensembl chr20:10,438,737...10,499,074
JBrowse link
Al-Raqad Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcps decapping enzyme, scavenger ISO ClinVar Annotator: match by term: Al-Raqad syndrome
ClinVar Annotator: match by term: AL-RAQAD SYNDROME
OMIM
ClinVar
PMID:25701870 PMID:25712129 PMID:25741868 PMID:28492532 PMID:30289615 NCBI chr 8:33,468,669...33,524,407 JBrowse link
Alazami Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Larp7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Alazami syndrome
ClinVar Annotator: match by OMIM:615071
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:22865833 PMID:25741868 PMID:30006060 PMID:32860008 NCBI chr 2:215,997,641...216,012,833
Ensembl chr 2:215,997,649...216,012,865
JBrowse link
Alazami-Yuan Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap4m1 adaptor related protein complex 4 subunit mu 1 ISO ClinVar Annotator: match by term: Alazami-Yuan syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr12:17,049,766...17,055,954
Ensembl chr12:17,049,777...17,058,026
JBrowse link
G Taf6 TATA-box binding protein associated factor 6 ISO ClinVar Annotator: match by term: Alazami-Yuan syndrome ClinVar
OMIM
PMID:11295558 PMID:25558065 PMID:25574841 PMID:25741868 PMID:28492532 NCBI chr12:17,055,864...17,064,244
Ensembl chr12:17,055,873...17,064,247
JBrowse link
Amish Lethal Microcephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a19 solute carrier family 25 member 19 ISO ClinVar Annotator: match by OMIM:607196
ClinVar Annotator: match by term: Amish lethal microcephaly
ClinVar
OMIM
PMID:12185364 PMID:18414213 PMID:19798730 PMID:25741868 PMID:26467025 More... NCBI chr10:100,853,554...100,867,517
Ensembl chr10:100,847,168...100,867,447
JBrowse link
AMME complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a6 collagen type IV alpha 6 chain ISO OMIM NCBI chr  X:104,766,463...105,117,499
Ensembl chr  X:104,766,957...105,117,500
JBrowse link
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: AEC syndrome
ClinVar Annotator: match by term: Hay-Wells syndrome of ectodermal dysplasia
ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects, cleft lip/palate
DNA:missense mutations:exon:multiple
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9774969 PMID:10886756 PMID:11159940 PMID:15200513 PMID:19239083 More... RGD:11568643 NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
JBrowse link
Antley-Bixler syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp51 cytochrome P450, family 51 ISO RGD PMID:21705796 RGD:41412188 NCBI chr 4:30,036,956...30,055,410
Ensembl chr 4:30,036,865...30,055,410
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Osteodysgenesis, multisynostotic with fractures
ClinVar Annotator: match by term: Antley-Bixler Syndrome, Autosomal Dominant
DNA:missense mutations:cds:multiple (human)
CTD
ClinVar
PMID:7558045 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... RGD:12801485 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
G Por cytochrome p450 oxidoreductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14758361 PMID:15220035 PMID:16906539 PMID:27496950 NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
JBrowse link
Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Por cytochrome p450 oxidoreductase ISO ClinVar Annotator: match by term: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
ClinVar Annotator: match by OMIM:201750
OMIM
ClinVar
PMID:9360545 PMID:12116245 PMID:14513299 PMID:14758361 PMID:15220035 More... NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
JBrowse link
ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
ClinVar Annotator: match by term: Antley-bixler syndrome without genital anomalies or disordered steroidogenesis
OMIM
ClinVar
PMID:7558045 PMID:7607643 PMID:7668257 PMID:7719344 PMID:7719345 More... NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
G Por cytochrome p450 oxidoreductase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
JBrowse link
Arboleda-Tham syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kat6a lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: Arboleda-Tham syndrome
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 32
ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
OMIM
ClinVar
PMID:17374998 PMID:25728775 PMID:25728777 PMID:25741868 PMID:26938784 More... NCBI chr16:69,084,914...69,165,923
Ensembl chr16:69,084,914...69,163,606
JBrowse link
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT
ClinVar Annotator: match by term: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
ClinVar
OMIM
PMID:25741868 PMID:29432562 NCBI chr 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974
JBrowse link
Asparagine Synthetase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asns asparagine synthetase (glutamine-hydrolyzing) ISO ClinVar Annotator: match by term: Asparagine synthetase deficiency
ClinVar Annotator: match by OMIM:615574
OMIM
ClinVar
PMID:24139043 PMID:25741868 PMID:25758715 PMID:26395554 PMID:27422383 More... NCBI chr 4:35,784,995...35,803,474
Ensembl chr 4:35,785,237...35,803,423
JBrowse link
Au-Kline Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Kabuki-like syndrome ClinVar PMID:25741868 NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
JBrowse link
G Hnrnpk heterogeneous nuclear ribonucleoprotein K ISO ClinVar Annotator: match by term: AU-KLINE SYNDROME OMIM
ClinVar
PMID:18414213 PMID:25741868 PMID:26173930 PMID:26220823 PMID:26954065 More... NCBI chr17:6,262,936...6,275,001
Ensembl chr17:6,262,998...6,274,997
JBrowse link
G Med13l mediator complex subunit 13L ISO ClinVar Annotator: match by term: Kabuki-like syndrome ClinVar NCBI chr12:37,807,596...38,004,485
Ensembl chr12:37,808,285...38,004,473
JBrowse link
autosomal dominant craniodiaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sost sclerostin ISO ClinVar Annotator: match by OMIM:122860 OMIM
ClinVar
PMID:17853455 PMID:21221996 NCBI chr10:86,912,517...86,915,561
Ensembl chr10:86,911,517...86,915,561
JBrowse link
Autosomal Dominant Mental Retardation 63 with Macrocephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trio trio Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 63, with macrocephaly
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY
OMIM
ClinVar
PMID:25741868 PMID:27418539 PMID:28796471 PMID:32109419 NCBI chr 2:78,505,069...78,801,384
Ensembl chr 2:78,505,070...78,803,135
JBrowse link
autosomal dominant Robinow syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dvl1 dishevelled segment polarity protein 1 ISS
ISO
OMIM:180700
ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 1
MouseDO
ClinVar
PMID:25741868 PMID:28492532 NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664
JBrowse link
G Dvl3 dishevelled segment polarity protein 3 ISO ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 1 ClinVar PMID:23806086 PMID:24088041 PMID:25741868 PMID:26924530 NCBI chr11:80,365,446...80,382,641
Ensembl chr11:80,366,117...80,382,462
JBrowse link
G Fzd2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 1 ClinVar PMID:25759469 PMID:29276006 NCBI chr10:87,561,866...87,563,776
Ensembl chr10:87,561,326...87,565,334
JBrowse link
G Ror2 receptor tyrosine kinase-like orphan receptor 2 ISO ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:11,972,830...12,148,152
Ensembl chr17:11,972,830...12,148,152
JBrowse link
G Wnt5a Wnt family member 5A ISO ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 1 OMIM
ClinVar
PMID:5771504 PMID:16602827 PMID:18414213 PMID:19918918 PMID:24716670 More... NCBI chr16:3,695,667...3,718,234
Ensembl chr16:3,697,032...3,718,234
JBrowse link
autosomal dominant Robinow syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chn1 chimerin 1 ISO ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 2 ClinVar NCBI chr 3:58,509,822...58,676,774
Ensembl chr 3:58,510,536...58,676,490
JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 2 ClinVar
OMIM
PMID:10319206 PMID:23806086 PMID:24088041 PMID:25045061 PMID:25741868 More... NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664
JBrowse link
G Dvl3 dishevelled segment polarity protein 3 ISO ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 2 ClinVar PMID:29276006 NCBI chr11:80,365,446...80,382,641
Ensembl chr11:80,366,117...80,382,462
JBrowse link
G Fzd2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 2 ClinVar PMID:25759469 PMID:29276006 NCBI chr10:87,561,866...87,563,776
Ensembl chr10:87,561,326...87,565,334
JBrowse link
autosomal dominant Robinow syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dvl3 dishevelled segment polarity protein 3 ISO ClinVar Annotator: match by term: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3
ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 3
ClinVar
OMIM
PMID:23806086 PMID:24088041 PMID:25741868 PMID:26924530 NCBI chr11:80,365,446...80,382,641
Ensembl chr11:80,366,117...80,382,462
JBrowse link
G Fzd2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 3 ClinVar PMID:29276006 NCBI chr10:87,561,866...87,563,776
Ensembl chr10:87,561,326...87,565,334
JBrowse link
autosomal recessive craniometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal recessive type OMIM
ClinVar
PMID:11146471 PMID:23951358 PMID:25741868 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
JBrowse link
autosomal recessive Robinow syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prickle1 prickle planar cell polarity protein 1 ISS OMIM:268310 MouseDO NCBI chr 7:124,639,142...124,735,027
Ensembl chr 7:124,639,142...124,658,113
JBrowse link
G Ror2 receptor tyrosine kinase-like orphan receptor 2 ISO ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive
ClinVar Annotator: match by OMIM:268310
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:exons: c.545G>A (p.C182Y),c.227G>A (p.G76D), c.668G>A (p.C223Y)(human)
DNA:nonsense mutation:cds:p.W749X(mouse)
ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals
ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly
ClinVar Annotator: match by null
OMIM
ClinVar
CTD
PMID:10932186 PMID:10932187 PMID:10986040 PMID:12815588 PMID:15952209 More... RGD:11537348, RGD:11537347, RGD:11535948 NCBI chr17:11,972,830...12,148,152
Ensembl chr17:11,972,830...12,148,152
JBrowse link
Autosomal Recessive Robinow Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nxn nucleoredoxin ISO ClinVar Annotator: match by term: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 OMIM
ClinVar
PMID:25741868 PMID:29276006 NCBI chr10:61,109,323...61,247,576
Ensembl chr10:61,110,020...61,248,251
JBrowse link
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
JBrowse link
G Hmgn2 high mobility group nucleosomal binding domain 2 ISS OMIM:180500 MouseDO NCBI chr 5:146,192,126...146,195,580
Ensembl chr 5:146,192,126...146,195,521
JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
JBrowse link
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:180500
OMIM
ClinVar
CTD
PMID:8944018 PMID:9685346 PMID:10490637 PMID:10502778 PMID:10644443 More... NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
JBrowse link
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 4:95,075,736...95,237,921
Ensembl chr 4:95,075,768...95,238,301
JBrowse link
Baller-Gerold syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Recql4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Baller-Gerold syndrome
ClinVar Annotator: match by term: Craniosynostosis with radial defects
OMIM
ClinVar
PMID:9536098 PMID:9878247 PMID:10319867 PMID:10678659 PMID:12734318 More... NCBI chr 7:108,423,453...108,430,790
Ensembl chr 7:108,423,455...108,430,619
JBrowse link
Bamforth-Lazarus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16884476 NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
JBrowse link
G Foxe1 forkhead box E1 ISO ClinVar Annotator: match by term: Bamforth-Lazarus syndrome
ClinVar Annotator: match by term: Bamforth syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:241850
ClinVar Annotator: match by synonym: Hypothyroidism, thyroidal, with spiky hair and cleft palate
OMIM
ClinVar
CTD
PMID:2918525 PMID:9697705 PMID:12165566 PMID:16882747 PMID:16884476 More... NCBI chr 5:60,630,027...60,632,835
Ensembl chr 5:60,630,027...60,632,835
JBrowse link
Bannayan-Riley-Ruvalcaba syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Egfr epidermal growth factor receptor ISO ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
JBrowse link
G Klln killin, p53-regulated DNA replication inhibitor ISO ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar PMID:2338203 PMID:12844284 PMID:16773562 PMID:17427195 PMID:21194675 More...
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: RUVALCABA-MYHRE-SMITH SYNDROME
ClinVar Annotator: match by term: Cowden syndrome 1
ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA
ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15647370 PMID:15805248 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome
ClinVar Annotator: match by term: Cowden syndrome 1
ClinVar Annotator: match by term: RUVALCABA-MYHRE-SMITH SYNDROME
ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA
ClinVar
OMIM
PMID:1097835 PMID:2338203 PMID:7728760 PMID:8673088 PMID:8980400 More... NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA ClinVar PMID:27604842 PMID:28492532 NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293
JBrowse link
Baraitser-Winter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actb actin, beta ISS
ISO
OMIM:243310 | OMIM:614583
ClinVar Annotator: match by term: Cerebrofrontofacial syndrome
ClinVar Annotator: match by term: Baraitser-Winter syndrome
MouseDO
ClinVar
PMID:12325076 PMID:16685646 PMID:22366783 PMID:25052316 PMID:25741868 More... NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877
JBrowse link
G Actg1 actin, gamma 1 ISS OMIM:243310 | OMIM:614583 MouseDO NCBI chr10:105,619,738...105,622,587
Ensembl chr10:105,619,737...105,624,232
JBrowse link
Baraitser-Winter Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actb actin, beta ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1
ClinVar Annotator: match by term: CEREBROOCULOFACIAL LYMPHATIC SYNDROME
ClinVar Annotator: match by term: Iris coloboma with ptosis, hypertelorism, and mental retardation
ClinVar Annotator: match by OMIM:243310
OMIM
ClinVar
PMID:1415343 PMID:9536098 PMID:10327243 PMID:10411937 PMID:10928857 More... NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877
JBrowse link
Baraitser-Winter Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg1 actin, gamma 1 ISO ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2
ClinVar Annotator: match by OMIM:614583
OMIM
ClinVar
PMID:3351890 PMID:18414213 PMID:22366783 PMID:24033266 PMID:25052316 More... NCBI chr10:105,619,738...105,622,587
Ensembl chr10:105,619,737...105,624,232
JBrowse link
Baralle-Macken Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Copb1 COPI coat complex subunit beta 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH CATARACTS AND VARIABLE MICROCEPHALY OMIM
ClinVar
PMID:33632302 NCBI chr 1:168,404,334...168,438,589
Ensembl chr 1:168,404,335...168,438,416
JBrowse link
Barber-Say syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Twist2 twist family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Barber-Say syndrome ClinVar
OMIM
PMID:1867254 PMID:8368246 PMID:9674915 PMID:16650233 PMID:19760652 More... NCBI chr 9:92,374,740...92,419,222
Ensembl chr 9:92,374,574...92,419,222
JBrowse link
Bartsocas-Papas Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ripk4 receptor-interacting serine-threonine kinase 4 ISO ClinVar Annotator: match by term: Bartsocas-Papas syndrome
ClinVar Annotator: match by term: Popliteal pterygium syndrome lethal type
ClinVar Annotator: match by OMIM:263650
OMIM
ClinVar
PMID:10925380 PMID:15264293 PMID:22197488 PMID:22197489 PMID:23074676 More... NCBI chr11:37,122,555...37,144,799
Ensembl chr11:37,122,565...37,144,799
JBrowse link
Bartsocas-Papas Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chuk component of inhibitor of nuclear factor kappa B kinase complex ISO ClinVar Annotator: match by term: BARTSOCAS-PAPAS SYNDROME 2 OMIM
ClinVar
PMID:25691407 NCBI chr 1:242,959,539...242,995,066
Ensembl chr 1:242,959,760...242,995,065
JBrowse link
Basel-Vanagaite-Smirin-Yosef syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med25 mediator complex subunit 25 ISO ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome ClinVar
OMIM
PMID:25488817 PMID:25741868 PMID:25792360 PMID:28492532 PMID:30039206 NCBI chr 1:95,359,961...95,375,827
Ensembl chr 1:95,360,284...95,375,877
JBrowse link
Beare-Stevenson cutis gyrata syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Beare-Stevenson cutis gyrata syndrome
ClinVar Annotator: match by term: Cutis Gyrata syndrome of Beare and Stevenson
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
OMIM
ClinVar
CTD
PMID:7558045 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
Beaulieu-Boycott-Innes Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thoc6 THO complex 6 ISO ClinVar Annotator: match by term: Beaulieu-Boycott-Innes syndrome OMIM
ClinVar
PMID:18414213 PMID:23621916 PMID:25741868 PMID:26739162 PMID:27102954 More... NCBI chr10:12,700,051...12,705,411
Ensembl chr10:12,700,051...12,706,925
JBrowse link
BILATERAL CLEFT LIP term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plekha5 pleckstrin homology domain containing A5 ISO ClinVar Annotator: match by term: Bilateral cleft lip ClinVar PMID:25741868 NCBI chr 4:173,333,891...173,503,546
Ensembl chr 4:173,334,055...173,503,546
JBrowse link
Birk-Barel syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnk9 potassium two pore domain channel subfamily K member 9 ISO ClinVar Annotator: match by term: Birk-Barel syndrome
ClinVar Annotator: match by term: Birk Barel mental retardation dysmorphism syndrome
ClinVar Annotator: match by term: Birk-Barel Intellectual Disability Dysmorphism Syndrome
ClinVar Annotator: match by OMIM:612292
OMIM
ClinVar
PMID:18678320 PMID:23236211 PMID:25326635 PMID:25741868 PMID:27151206 More... NCBI chr 7:104,429,186...104,473,924
Ensembl chr 7:104,437,934...104,473,175
JBrowse link
blepharocheilodontic syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: Blepharocheilodontic syndrome 1 OMIM
ClinVar
PMID:8033105 PMID:24033266 PMID:25741868 PMID:25980754 PMID:26123647 More... NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
JBrowse link
blepharocheilodontic syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnnd1 catenin delta 1 ISO ClinVar Annotator: match by term: BLEPHAROCHEILODONTIC SYNDROME 2
ClinVar Annotator: match by term: Blepharocheilodontic syndrome 2
ClinVar
OMIM
PMID:25741868 PMID:28301459 PMID:29805042 NCBI chr 3:69,683,328...69,734,550
Ensembl chr 3:69,683,313...69,734,516
JBrowse link
Bloom syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aagab alpha- and gamma-adaptin binding protein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:64,083,343...64,121,903
Ensembl chr 8:64,083,380...64,121,900
JBrowse link
G 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
JBrowse link
G Abhd2 abhydrolase domain containing 2, acylglycerol lipase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:133,217,403...133,298,564
Ensembl chr 1:133,217,375...133,299,061
JBrowse link
G Acan aggrecan ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:132,981,034...133,044,416
Ensembl chr 1:132,981,582...133,043,627
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Adal adenosine deaminase-like 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
JBrowse link
G 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
JBrowse link
G Adamts7 ADAM metallopeptidase with thrombospondin type 1 motif, 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:90,704,727...90,744,331
Ensembl chr 8:90,704,727...90,744,328
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Ankrd63 ankyrin repeat domain 63 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:105,675,147...105,680,200 JBrowse link
G Anp32a acidic nuclear phosphoprotein 32 family member A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532
G Anpep alanyl aminopeptidase, membrane ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:133,767,332...133,810,137
Ensembl chr 1:133,767,332...133,785,789
JBrowse link
G 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
JBrowse link
G Ap3b2 adaptor related protein complex 3 subunit beta 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:135,412,580...135,445,191
Ensembl chr 1:135,412,580...135,445,191
JBrowse link
G Ap3s2 adaptor related protein complex 3 subunit sigma 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:133,818,825...133,859,269
Ensembl chr 1:133,818,825...133,859,322
JBrowse link
G Ap4e1 adaptor related protein complex 4 subunit epsilon 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:114,272,997...114,339,484
Ensembl chr 3:114,272,956...114,336,752
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Arpin actin-related protein 2/3 complex inhibitor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:133,864,288...133,873,124
Ensembl chr 1:133,864,265...133,873,124
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Blm BLM RecQ like helicase ISO ClinVar Annotator: match by term: Bloom syndrome
ClinVar Annotator: match by OMIM:210900
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:2678854 PMID:7585968 PMID:9285778 PMID:9388480 PMID:9536098 More... RGD:1580056, RGD:1599420 NCBI chr 1:134,409,832...134,496,073
Ensembl chr 1:134,409,857...134,484,312
JBrowse link
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308
JBrowse link
G 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
JBrowse link
G Bnc1 basonuclin 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G C2cd4a C2 calcium-dependent domain containing 4A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:68,467,017...68,470,033
Ensembl chr 8:68,466,664...68,470,031
JBrowse link
G 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
JBrowse link
G Ca12 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Ccdc32 coiled-coil domain containing 32 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:105,998,429...106,010,930
Ensembl chr 3:105,998,430...106,010,975
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Ccpg1os cell cycle progression 1, opposite strand 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 3:112,793,983...112,804,069
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
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
JBrowse link
G Chrna3 cholinergic receptor nicotinic alpha 3 subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:55,401,981...55,415,012
Ensembl chr 8:55,401,702...55,415,165
JBrowse link
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
JBrowse link
G Chrnb4 cholinergic receptor nicotinic beta 4 subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:55,418,379...55,436,967
Ensembl chr 8:55,418,313...55,437,027
JBrowse link
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
JBrowse link
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
JBrowse link
G Cib1 calcium and integrin binding 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:134,178,331...134,183,895
Ensembl chr 1:134,178,331...134,213,423
JBrowse link
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 JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Commd4 COMM domain containing 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:57,566,236...57,569,794
Ensembl chr 8:57,566,236...57,569,760
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Crtc3 CREB regulated transcription coactivator 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:134,552,830...134,655,929
Ensembl chr 1:134,554,696...134,655,500
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Ctdspl2 CTD small phosphatase like 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:108,914,650...108,970,620
Ensembl chr 3:108,915,280...108,967,227
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:54,553,165...54,580,758
Ensembl chr 8:54,553,165...54,580,758
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Det1 DET1 partner of COP1 E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:132,749,736...132,765,963
Ensembl chr 1:132,749,756...132,765,923
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Dnaja4 DnaJ heat shock protein family (Hsp40) member A4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:55,085,246...55,102,715
Ensembl chr 8:55,085,464...55,101,207
JBrowse link
G Dnajc17 DnaJ heat shock protein family (Hsp40) member C17 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,162,197...106,195,771
Ensembl chr 3:106,162,197...106,195,751
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Duoxa2 dual oxidase maturation factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:109,245,476...109,248,844
Ensembl chr 3:109,245,476...109,248,968
JBrowse link
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
JBrowse link
G Edc3 enhancer of mRNA decapping 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:58,106,129...58,151,685
Ensembl chr 8:58,106,175...58,151,671
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:105,356,261...105,441,630
Ensembl chr 3:105,356,261...105,441,630
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Fam214a family with sequence similarity 214, member 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
JBrowse link
G Fam219b family with sequence similarity 219, member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:57,941,251...57,946,916
Ensembl chr 8:57,941,294...57,946,906
JBrowse link
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
JBrowse link
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
JBrowse link
G Fam98b family with sequence similarity 98, member B ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:104,134,759...104,164,249 JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
JBrowse link
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
JBrowse link
G Fbxl22 F-box and leucine-rich repeat protein 22 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:67,069,998...67,076,685
Ensembl chr 8:67,069,998...67,076,685
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Fsd2 fibronectin type III and SPRY domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:135,484,002...135,522,517
Ensembl chr 1:135,489,266...135,522,472
JBrowse link
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
JBrowse link
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
JBrowse link
G Gabpb1 GA binding protein transcription factor subunit beta 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:113,879,972...113,924,744
Ensembl chr 3:113,879,973...113,923,696
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Gdpgp1 GDP-D-glucose phosphorylase 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:134,184,095...134,193,281 JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Gnb5 G protein subunit beta 5 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:76,076,227...76,104,151
Ensembl chr 8:76,073,306...76,105,069
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Gtf2a2 general transcription factor 2A subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:70,662,395...70,675,576
Ensembl chr 8:70,662,428...70,675,569
JBrowse link
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
JBrowse link
G Hapln3 hyaluronan and proteoglycan link protein 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:133,046,465...133,064,665
Ensembl chr 1:133,046,467...133,080,177
JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:59,222,206...59,259,626
Ensembl chr 8:59,221,653...59,259,639
JBrowse link
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
JBrowse link
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
JBrowse link
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:66,857,169...67,070,318
Ensembl chr 8:66,856,935...67,070,312
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Ice2 interactor of little elongation complex ELL subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:70,043,419...70,085,217
Ensembl chr 8:70,043,424...70,084,995
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Iqgap1 IQ motif containing GTPase activating protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:134,679,581...134,769,776
Ensembl chr 1:134,679,586...134,769,755
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Itga11 integrin subunit alpha 11 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:63,145,950...63,254,717
Ensembl chr 8:63,146,001...63,254,407
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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 JBrowse link
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
JBrowse link
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Leo1 LEO1 homolog, Paf1/RNA polymerase II complex component ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:76,199,547...76,223,983
Ensembl chr 8:76,199,099...76,223,983
JBrowse link
G Lig1 DNA ligase 1 ISO ClinVar Annotator: match by term: Dna ligase i deficiency ClinVar PMID:1351188 PMID:1581963 PMID:19223467 NCBI chr 1:74,165,688...74,204,400
Ensembl chr 1:74,165,842...74,204,413
JBrowse link
G Lingo1 leucine rich repeat and Ig domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:57,011,272...57,193,496
Ensembl chr 8:57,010,007...57,196,544
JBrowse link
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
JBrowse link
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
JBrowse link
G LOC103691872 HAUS augmin-like complex subunit 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:107,553,094...107,565,982
Ensembl chr 3:107,553,161...107,565,157
JBrowse link
G LOC691418 hypothetical protein LOC691418 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:106,163,898...106,167,404
Ensembl chr 3:106,157,382...106,167,831
JBrowse link
G Loxl1 lysyl oxidase-like 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:58,692,592...58,716,356
Ensembl chr 8:58,692,593...58,716,356
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Lysmd2 LysM domain containing 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:76,378,984...76,394,395
Ensembl chr 8:76,379,219...76,394,654
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Meis2 Meis homeobox 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:102,742,905...102,944,833
Ensembl chr 3:102,742,900...102,949,696
JBrowse link
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
JBrowse link
G Mesp1 mesoderm posterior bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:133,738,357...133,739,875
Ensembl chr 1:133,738,357...133,739,875
JBrowse link
G Mesp2 mesoderm posterior bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:133,756,601...133,759,207
Ensembl chr 1:133,756,601...133,759,198
JBrowse link
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
JBrowse link
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
JBrowse link
G Mfge8 milk fat globule EGF and factor V/VIII domain containing ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:133,064,665...133,080,069
Ensembl chr 1:133,064,665...133,080,073
JBrowse link
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
JBrowse link
G MGC105649 hypothetical LOC302884 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 3:109,719,952...109,723,507
Ensembl chr 3:109,719,897...109,724,006
Ensembl chr 3:109,719,897...109,724,006
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Mir9-3 microRNA 9-3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:133,440,049...133,440,138 JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Myo9a myosin IXA ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:60,149,234...60,348,726
Ensembl chr 8:60,149,234...60,350,514
JBrowse link
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 JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Ngrn neugrin, neurite outgrowth associated ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:134,213,235...134,219,348
Ensembl chr 1:134,213,456...134,219,339
JBrowse link
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
JBrowse link
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
JBrowse link
G Nptn neuroplastin ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:58,996,876...59,063,402
Ensembl chr 8:58,996,887...59,063,401
JBrowse link
G Nr2e3 nuclear receptor subfamily 2, group E, member 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:60,365,581...60,373,383
Ensembl chr 8:60,366,124...60,373,163
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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...106,633,624
Ensembl chr 3:106,603,289...106,633,624
JBrowse link
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
JBrowse link
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
JBrowse link
G Odf3l1 outer dense fiber of sperm tails 3-like 1 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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Pclaf PCNA clamp associated factor ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:66,420,673...66,432,568
Ensembl chr 8:66,420,587...66,432,994
Ensembl chr 8:66,420,587...66,432,994
JBrowse link
G Pdcd7 programmed cell death 7 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:65,862,604...65,877,333
Ensembl chr 8:65,862,387...65,877,333
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Pex11a peroxisomal biogenesis factor 11 alpha ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:133,680,091...133,687,172
Ensembl chr 1:133,680,091...133,687,172
JBrowse link
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 JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Plin1 perilipin 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:133,664,294...133,676,854
Ensembl chr 1:133,664,892...133,676,828
JBrowse link
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
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
JBrowse link
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 JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Pygo1 pygopus family PHD finger 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:73,666,467...73,684,641
Ensembl chr 8:73,665,593...73,684,869
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Rasgrf1 RAS protein-specific guanine nucleotide-releasing factor 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 8:90,445,154...90,574,274
Ensembl chr 8:90,445,154...90,574,269
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G RGD1305464 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
JBrowse link
G RGD1305713 similar to RIKEN cDNA 3110040N11 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:135,725,869...135,732,136
Ensembl chr 1:135,717,545...135,732,039
JBrowse link
G RGD1309779 similar to ENSANGP00000021391 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
JBrowse link
G Rhcg Rh family, C glycoprotein ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:133,531,704...133,555,902
Ensembl chr 1:133,531,716...133,555,876
JBrowse link
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
JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:133,308,920...133,322,296
Ensembl chr 1:133,308,938...133,322,296
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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