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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 chr12:13,715,843...13,718,813
Ensembl chr12:13,715,843...13,718,841
JBrowse link
G Actg1 actin, gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22366783 NCBI chr10:109,518,429...109,521,288
Ensembl chr 3:75,643,054...75,644,954
Ensembl chr10:75,643,054...75,644,954
JBrowse link
G Alx1 ALX homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9847249 NCBI chr 7:44,751,865...44,771,458
Ensembl chr 7:44,751,873...44,771,458
JBrowse link
G Alx4 ALX homeobox 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9847249 NCBI chr 3:82,548,959...82,585,531
Ensembl chr 3:82,548,959...82,585,531
JBrowse link
G Ankh ANKH inorganic pyrophosphate transport regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:18027777 NCBI chr 2:80,131,563...80,256,948
Ensembl chr 2:80,131,563...80,256,954
JBrowse link
G Anxa1 annexin A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17405164 NCBI chr 1:237,893,983...237,910,002
Ensembl chr 1:237,893,966...237,910,012
JBrowse link
G Apaf1 apoptotic peptidase activating factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9753320, PMID:9753321 NCBI chr 7:31,699,309...31,784,192
Ensembl chr 7:31,699,885...31,784,192
JBrowse link
G Atp6ap2 ATPase H+ transporting accessory protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16759393 NCBI chr  X:11,137,889...11,164,854
Ensembl chr  X:11,136,939...11,164,915
JBrowse link
G Atrx ATRX, chromatin remodeler ISO CTD Direct Evidence: marker/mechanism CTD PMID:19291773 NCBI chr  X:76,820,110...76,979,155
Ensembl chr  X:76,692,970...76,708,878
Ensembl chr  X:76,692,970...76,708,878
JBrowse link
G B3gat3 beta-1,3-glucuronyltransferase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16759393 NCBI chr 1:225,120,061...225,126,579
Ensembl chr 1:225,120,061...225,126,579
JBrowse link
G B4galt7 beta-1,4-galactosyltransferase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16759393 NCBI chr17:9,549,605...9,558,672
Ensembl chr17:9,550,028...9,558,634
JBrowse link
G Bmpr1a bone morphogenetic protein receptor type 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15804571 NCBI chr16:10,758,278...10,852,170
Ensembl chr16:10,758,527...10,802,512
JBrowse link
G Bmpr1b bone morphogenetic protein receptor type 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15804571 NCBI chr 2:247,392,195...247,662,026
Ensembl chr 2:247,403,920...247,446,882
JBrowse link
G Bnc2 basonuclin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19706529 NCBI chr 5:102,407,508...102,807,389
Ensembl chr 5:102,415,847...102,786,331
JBrowse link
G Chst14 carbohydrate sulfotransferase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20842734 NCBI chr 3:110,734,105...110,736,162
Ensembl chr 3:110,734,105...110,736,162
JBrowse link
G Cntn4 contactin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15106122 NCBI chr 4:137,785,166...138,787,527
Ensembl chr 4:138,269,142...138,787,525
JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:19638309 NCBI chr 2:216,863,423...217,056,523
Ensembl chr 2:216,863,428...217,056,523
JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:16637051 NCBI chr20:3,829,324...3,859,022
Ensembl chr20:3,830,164...3,859,018
JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:9061443, PMID:15562585 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
JBrowse link
G Colec11 collectin sub-family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr 6:47,857,767...47,889,961
Ensembl chr 6:47,857,771...47,890,033
JBrowse link
G Csnk1a1 casein kinase 1, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16759393 NCBI chr18:56,887,722...56,910,610
Ensembl chr18:56,887,354...56,918,345
JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11262227 NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
JBrowse link
G Dcaf7 DDB1 and CUL4 associated factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16759393 NCBI chr10:94,231,585...94,254,046
Ensembl chr10:94,231,585...94,254,046
JBrowse link
G Dll3 delta like canonical Notch ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17849441 NCBI chr 1:85,485,875...85,493,683
Ensembl chr 1:85,485,289...85,493,685
JBrowse link
G Dlx1 distal-less homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9187081 NCBI chr 3:58,164,931...58,169,521
Ensembl chr 3:58,164,931...58,169,521
JBrowse link
G Dlx2 distal-less homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9187081 NCBI chr 3:58,180,088...58,181,971
Ensembl chr 3:58,180,088...58,181,971
JBrowse link
G Dlx5 distal-less homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10433909, PMID:10433912, PMID:14666512 NCBI chr 4:32,387,741...32,392,085
Ensembl chr 4:32,387,741...32,392,007
JBrowse link
G Dlx6 distal-less homeobox 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14666512 NCBI chr 4:32,373,096...32,377,388
Ensembl chr 4:32,373,641...32,377,253
JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:24614070 NCBI chr 6:28,205,375...28,346,052
Ensembl chr 6:28,235,695...28,340,577
JBrowse link
G Dnmt3b DNA methyltransferase 3 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17908720 NCBI chr 3:149,131,541...149,170,061
Ensembl chr 3:149,131,785...149,208,786
JBrowse link
G Ece1 endothelin converting enzyme 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9449665 NCBI chr 5:156,215,469...156,318,652
Ensembl chr 5:156,215,417...156,318,671
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 chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Ednra endothelin receptor type A ISO CTD Direct Evidence: marker/mechanism CTD PMID:9811577, PMID:17294360 NCBI chr19:33,928,356...33,991,703
Ensembl chr19:33,928,356...33,991,703
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10319864 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Ep300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26921506 NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18628313 NCBI chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610
JBrowse link
G Erf Ets2 repressor factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23354439 NCBI chr 1:82,112,449...82,120,902
Ensembl chr 1:82,112,449...82,120,902
JBrowse link
G Ets2 ETS proto-oncogene 2, transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19764029 NCBI chr11:36,075,709...36,092,495
Ensembl chr11:36,075,709...36,092,495
JBrowse link
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10471511 NCBI chr 5:4,275,728...4,495,525
Ensembl chr 5:4,373,626...4,513,142
JBrowse link
G Fadd Fas associated via death domain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17656375 NCBI chr 1:217,746,176...217,748,581
Ensembl chr 1:217,742,929...217,748,628
JBrowse link
G Fam83h family with sequence similarity 83, member H ISO CTD Direct Evidence: marker/mechanism CTD PMID:19407157 NCBI chr 7:117,062,748...117,070,936
Ensembl chr 7:117,062,692...117,070,936
JBrowse link
G Fgd1 FYVE, RhoGEF and PH domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7954831 NCBI chr  X:20,100,942...20,143,871
Ensembl chr  X:20,216,587...20,225,955
Ensembl chr  X:20,216,587...20,225,955
JBrowse link
G Fgf3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17656375 NCBI chr 1:218,003,018...218,006,942
Ensembl chr 1:218,003,018...218,006,942
JBrowse link
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16720880 NCBI chr 1:265,492,949...265,498,965
Ensembl chr 1:265,493,124...265,498,831
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 chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
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 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
G Fmr1 FMRP translational regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17065172, PMID:22043169 NCBI chr  X:154,684,924...154,722,369
Ensembl chr  X:154,684,935...154,722,314
JBrowse link
G Folr1 folate receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15800851 NCBI chr 1:166,934,457...166,945,864
Ensembl chr 1:166,934,460...166,943,592
JBrowse link
G Foxc2 forkhead box C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9106663, PMID:9409679 NCBI chr19:53,044,379...53,047,081
Ensembl chr19:53,044,379...53,047,081
JBrowse link
G Foxi1 forkhead box I1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16759393 NCBI chr10:19,160,566...19,164,505
Ensembl chr10:19,160,582...19,164,505
JBrowse link
G Foxp2 forkhead box P2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17033973 NCBI chr 4:41,364,441...41,944,685
Ensembl chr 4:41,364,441...41,942,023
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 5:101,018,009...101,166,794
Ensembl chr 5:101,020,448...101,166,651
JBrowse link
G Fzd4 frizzled class receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17103440 NCBI chr 1:153,589,471...153,598,376
Ensembl chr 1:153,589,471...153,598,375
JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15878204 NCBI chr 1:113,034,251...113,265,364
Ensembl chr 1:112,976,770...113,265,364
JBrowse link
G Gata2 GATA binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20707411 NCBI chr 4:120,129,028...120,142,490
Ensembl chr 4:120,133,713...120,142,488
JBrowse link
G Gna11 G protein subunit alpha 11 ISO RGD PMID:9687499 RGD:737757 NCBI chr 7:11,033,400...11,047,284
Ensembl chr 7:11,033,317...11,047,437
JBrowse link
G Gnaq G protein subunit alpha q ISO CTD Direct Evidence: marker/mechanism CTD PMID:9687499, PMID:9687499 RGD:737757 NCBI chr 1:233,382,778...233,622,584
Ensembl chr 1:233,382,708...233,622,786
JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:15213848 NCBI chr11:86,520,992...86,522,169
Ensembl chr11:86,520,992...86,522,169
JBrowse link
G Gpc4 glypican 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16759393 NCBI chr  X:139,354,325...139,464,876
Ensembl chr  X:139,354,155...139,464,798
JBrowse link
G Gpc6 glypican 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19481194 NCBI chr15:102,164,091...103,174,721
Ensembl chr15:102,164,751...103,170,847
JBrowse link
G Gsc goosecoid homeobox ISO CTD Direct Evidence: marker/mechanism CTD PMID:10433910 NCBI chr 6:128,147,181...128,149,220
Ensembl chr 6:128,147,181...128,149,220
JBrowse link
G Gtf2ird1 GTF2I repeat domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20007321 NCBI chr12:25,264,052...25,370,947
Ensembl chr12:25,264,192...25,371,001
JBrowse link
G Hapln1 hyaluronan and proteoglycan link protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9988279 NCBI chr 2:18,354,542...18,419,077
Ensembl chr 2:18,354,542...18,419,071
JBrowse link
G Hmx1 H6 family homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19379485 NCBI chr14:80,540,558...80,544,607
Ensembl chr14:80,541,075...80,544,342
JBrowse link
G Hoxa1 homeobox A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10529420 NCBI chr 4:82,124,358...82,127,182
Ensembl chr 4:82,125,406...82,127,066
JBrowse link
G Hoxa3 homeobox A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1673020 NCBI chr 4:82,137,802...82,181,836
Ensembl chr 4:82,138,683...82,141,385
JBrowse link
G Hoxb1 homeo box B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10529420 NCBI chr10:84,214,358...84,215,812
Ensembl chr10:84,214,358...84,215,687
JBrowse link
G Hspg2 heparan sulfate proteoglycan 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10545953 NCBI chr 5:155,812,096...155,913,751 JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27469509 NCBI chr 1:141,874,354...141,893,674
Ensembl chr 1:141,866,283...141,893,705
JBrowse link
G Irf6 interferon regulatory factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17041601 NCBI chr13:111,870,121...111,889,328
Ensembl chr13:111,870,121...111,889,328
JBrowse link
G Irx5 iroquois homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581230 NCBI chr19:16,415,813...16,421,088
Ensembl chr19:16,415,636...16,421,191
JBrowse link
G Itgb1bp1 integrin subunit beta 1 binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17567669 NCBI chr 6:43,348,927...43,363,633
Ensembl chr 6:43,348,958...43,363,335
JBrowse link
G Jag2 jagged canonical Notch ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9531541 NCBI chr 6:137,711,144...137,733,331
Ensembl chr 6:137,711,155...137,733,026
JBrowse link
G Kansl1 KAT8 regulatory NSL complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22544363, PMID:22544367 NCBI chr10:92,388,045...92,517,449
Ensembl chr10:92,389,530...92,476,109
JBrowse link
G Kif3a kinesin family member 3a ISO CTD Direct Evidence: marker/mechanism CTD PMID:17698054 NCBI chr10:38,918,705...38,953,958
Ensembl chr10:38,918,748...38,952,785
JBrowse link
G Letm1 leucine zipper and EF-hand containing transmembrane protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14706454 NCBI chr14:82,227,790...82,267,298
Ensembl chr14:82,227,708...82,267,350
JBrowse link
G Lmna lamin A/C ISO CTD Direct Evidence: marker/mechanism CTD PMID:15726408 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G LOC690035 similar to Protein KIAA0586 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15554946 NCBI chr 6:93,562,775...93,667,857
Ensembl chr 6:93,563,446...93,667,675
JBrowse link
G Lpar1 lysophosphatidic acid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11087877 NCBI chr 5:75,557,038...75,678,067
Ensembl chr 5:75,557,042...75,676,584
JBrowse link
G Lrp2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632512 NCBI chr 3:55,665,153...55,822,484
Ensembl chr 3:55,665,145...55,822,551
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 1:221,099,155...221,116,096
Ensembl chr 1:221,099,998...221,116,096
JBrowse link
G Masp1 mannan-binding lectin serine peptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr11:80,736,424...80,806,278
Ensembl chr11:80,736,576...80,803,382
JBrowse link
G Mbtps1 membrane-bound transcription factor peptidase, site 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16759393 NCBI chr19:52,146,507...52,206,310
Ensembl chr19:52,146,808...52,206,310
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19559301 NCBI chr  X:156,650,389...156,713,813
Ensembl chr  X:156,655,960...156,705,233
JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17728286 NCBI chr 8:5,522,739...5,533,018
Ensembl chr 8:5,522,739...5,533,018
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17400654, PMID:17440987 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mnt MAX network transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15028671 NCBI chr10:61,683,776...61,700,504
Ensembl chr10:61,685,241...61,700,491
JBrowse link
G Msl3 MSL complex subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30224647 NCBI chr  X:27,015,826...27,033,562
Ensembl chr  X:27,015,884...27,033,555
JBrowse link
G Msx1 msh homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12163415, PMID:14630905, PMID:14654219, PMID:15301380 NCBI chr14:77,712,262...77,716,061
Ensembl chr14:77,712,240...77,716,059
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 chr17:11,683,862...11,689,527
Ensembl chr17:11,683,862...11,689,527
JBrowse link
G Mthfd1l methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like ISO RGD PMID:23267094 RGD:12914149 NCBI chr 1:40,529,092...40,719,232
Ensembl chr 1:40,529,045...40,719,391
JBrowse link
G Ndst1 N-deacetylase and N-sulfotransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16020517 NCBI chr18:55,951,497...56,014,107
Ensembl chr18:55,955,389...55,992,885
JBrowse link
G Nipbl NIPBL, cohesin loading factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19763162 NCBI chr 2:57,508,830...57,676,197
Ensembl chr 2:57,509,428...57,600,820
JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17849441 NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G Nrxn1 neurexin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18057082 NCBI chr 6:13,886,757...15,191,660
Ensembl chr 6:13,886,740...15,191,660
JBrowse link
G Pax3 paired box 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14556253 NCBI chr 9:84,004,004...84,101,226
Ensembl chr 9:84,005,183...84,101,172
JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7559133, PMID:9079035, PMID:9363853 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
JBrowse link
G Pbx4 PBX homeobox 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16759393 NCBI chr16:21,303,117...21,338,771
Ensembl chr16:21,303,837...21,338,771
JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11023856 NCBI chr14:35,527,926...35,581,130
Ensembl chr14:35,527,927...35,581,031
JBrowse link
G Phex phosphate regulating endopeptidase homolog, X-linked ISO CTD Direct Evidence: marker/mechanism CTD PMID:1962291 NCBI chr  X:40,460,047...40,717,982
Ensembl chr  X:40,460,047...40,717,982
JBrowse link
G Pitx2 paired-like homeodomain 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10499585, PMID:14623826 NCBI chr 2:233,602,732...233,621,059
Ensembl chr 2:233,602,732...233,621,129
JBrowse link
G Prkra protein activator of interferon induced protein kinase EIF2AK2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22194846 NCBI chr 3:63,489,081...63,507,918
Ensembl chr 3:63,489,074...63,507,926
JBrowse link
G Ptch1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16405370, PMID:18539553 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
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, PMID:19321504 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Rad23b RAD23 homolog B, nucleotide excision repair protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11809813 NCBI chr 5:72,103,704...72,141,701
Ensembl chr 5:72,103,704...72,141,700
JBrowse link
G Rai1 retinoic acid induced 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19116176 NCBI chr10:46,511,271...46,571,591
Ensembl chr10:46,511,271...46,571,583
JBrowse link
G Rax retina and anterior neural fold homeobox ISO CTD Direct Evidence: marker/mechanism CTD PMID:15789424 NCBI chr18:61,638,352...61,642,056
Ensembl chr18:61,638,352...61,642,056
JBrowse link
G Rcan1 regulator of calcineurin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15906378 NCBI chr11:32,539,689...32,620,274
Ensembl chr11:32,539,683...32,550,539
JBrowse link
G Rdh10 retinol dehydrogenase 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793605 NCBI chr 5:2,605,265...2,631,905
Ensembl chr 5:2,603,505...2,632,030
JBrowse link
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:31570889 NCBI chr 8:117,082,440...117,116,244
Ensembl chr 8:117,106,576...117,116,167
JBrowse link
G Runx2 RUNX family transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14688224 NCBI chr 9:18,564,743...18,773,092
Ensembl chr 9:18,564,927...18,773,092
JBrowse link
G Ryk receptor-like tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10932185 NCBI chr 8:111,326,339...111,398,640
Ensembl chr 8:111,326,433...111,397,867
JBrowse link
G Sall3 spalt-like transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15282310 NCBI chr18:77,572,200...77,591,710
Ensembl chr18:77,573,702...77,579,969
JBrowse link
G Sall4 spalt-like transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16402211 NCBI chr 3:165,520,155...165,538,176
Ensembl chr 3:165,520,392...165,537,940
JBrowse link
G Satb2 SATB homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16960803 NCBI chr 9:63,456,877...63,642,193
Ensembl chr 9:63,456,783...63,641,400
JBrowse link
G Sec61a1 SEC61 translocon subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16759393 NCBI chr 4:120,453,577...120,467,932
Ensembl chr 4:120,453,581...120,467,932
JBrowse link
G Setbp1 SET binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20436468 NCBI chr18:75,090,733...75,432,446
Ensembl chr18:75,095,632...75,207,306
JBrowse link
G Sh3pxd2b SH3 and PX domains 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19669234 NCBI chr10:17,209,152...17,296,449
Ensembl chr10:17,209,212...17,291,876
JBrowse link
G Sim2 SIM bHLH transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12203729 NCBI chr11:34,315,739...34,355,183
Ensembl chr11:34,316,295...34,354,027
JBrowse link
G Sin3a SIN3 transcription regulator family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27399968 NCBI chr 8:61,748,590...61,803,314
Ensembl chr 8:61,762,768...61,803,099
JBrowse link
G Six1 SIX homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12834866 NCBI chr 6:95,929,060...95,934,296
Ensembl chr 6:95,929,060...95,934,296
JBrowse link
G Ski SKI proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:9284043 NCBI chr 5:172,556,196...172,623,878
Ensembl chr 5:172,559,135...172,623,899
JBrowse link
G Slc26a2 solute carrier family 26 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18925670 NCBI chr18:56,518,999...56,534,539
Ensembl chr18:56,520,740...56,534,415
JBrowse link
G Slc35d1 solute carrier family 35 member D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16759393 NCBI chr 5:122,700,396...122,746,815
Ensembl chr 5:122,699,587...122,746,839
JBrowse link
G Smad2 SMAD family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9655392, PMID:15183723 NCBI chr18:72,550,107...72,612,078
Ensembl chr18:72,550,219...72,612,078
JBrowse link
G Smad3 SMAD family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15183723, PMID:21217753 NCBI chr 8:68,569,530...68,678,349
Ensembl chr 8:68,569,530...68,678,349
JBrowse link
G Smad4 SMAD family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22158539 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
JBrowse link
G Sox9 SRY-box transcription factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11807034 NCBI chr10:101,288,528...101,294,030
Ensembl chr10:101,288,489...101,293,379
JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17576140 NCBI chr15:90,172,769...90,177,823
Ensembl chr15:90,172,975...90,175,802
JBrowse link
G Srp68 signal recognition particle 68 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16759393 NCBI chr10:105,123,324...105,150,080
Ensembl chr10:105,123,327...105,228,547
JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18316031 NCBI chr 8:62,925,364...62,944,438
Ensembl chr 8:62,925,357...62,944,437
JBrowse link
G Surf1 SURF1, cytochrome c oxidase assembly factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16765830 NCBI chr 3:5,461,717...5,464,560
Ensembl chr 3:4,869,795...4,872,632
JBrowse link
G Tbce tubulin folding cofactor E ISO CTD Direct Evidence: marker/mechanism CTD PMID:12389028 NCBI chr17:53,983,126...54,029,028
Ensembl chr17:53,983,182...54,029,027
JBrowse link
G Tbx1 T-box transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15190012, PMID:17000704 NCBI chr11:86,552,022...86,561,647
Ensembl chr11:86,552,022...86,560,969
JBrowse link
G Tbx15 T-box transcription factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19068278 NCBI chr 2:201,289,042...201,390,752
Ensembl chr 2:201,289,357...201,390,745
JBrowse link
G Tcf4 transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17436254 NCBI chr18:65,285,320...65,507,983
Ensembl chr18:65,155,685...65,507,977
JBrowse link
G Tcof1 treacle ribosome biogenesis factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16938878 NCBI chr18:56,081,863...56,115,719
Ensembl chr18:56,082,195...56,115,593
JBrowse link
G Tfap2a transcription factor AP-2 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:14534133, PMID:19685247 NCBI chr17:24,653,342...24,670,457
Ensembl chr17:24,654,902...24,670,457
JBrowse link
G Tfap2b transcription factor AP-2 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:10802654 NCBI chr 9:25,410,669...25,440,568
Ensembl chr 9:25,410,669...25,440,411
JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9217007 NCBI chr13:105,039,639...105,142,010
Ensembl chr13:105,039,853...105,141,030
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16368934, PMID:16885183 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
JBrowse link
G Thrb thyroid hormone receptor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:10660344 NCBI chr15:8,890,578...9,239,815
Ensembl chr15:8,890,578...9,086,282
JBrowse link
G Tmco1 transmembrane and coiled-coil domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20018682 NCBI chr13:85,465,015...85,559,113
Ensembl chr13:85,465,792...85,559,087
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9493073 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Tp63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10227294 NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
JBrowse link
G Trim37 tripartite motif-containing 37 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14757854 NCBI chr10:74,436,165...74,568,636
Ensembl chr10:74,436,208...74,568,493
JBrowse link
G Trps1 transcriptional repressor GATA binding 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11708946, PMID:19759027 NCBI chr 7:90,085,895...90,320,430
Ensembl chr 7:90,090,828...90,318,221
JBrowse link
G Ube3a ubiquitin protein ligase E3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15878204 NCBI chr 1:116,586,901...116,678,161
Ensembl chr 1:116,587,815...116,679,973
JBrowse link
G Ufd1 ubiquitin recognition factor in ER associated degradation 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10024240 NCBI chr11:86,304,836...86,328,478
Ensembl chr11:86,304,815...86,328,469
JBrowse link
G Unc45b unc-45 myosin chaperone B ISO CTD Direct Evidence: marker/mechanism CTD PMID:17189627 NCBI chr10:70,262,340...70,290,445
Ensembl chr10:70,262,361...70,290,445
JBrowse link
G Uxs1 UDP-glucuronate decarboxylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16759393 NCBI chr 9:11,165,006...11,240,329
Ensembl chr 9:11,164,715...11,339,790
JBrowse link
G Vsx1 visual system homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15051220 NCBI chr 3:146,484,235...146,494,757
Ensembl chr 3:146,484,238...146,491,837
JBrowse link
G Zic3 Zic family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17127413 NCBI chr  X:140,875,191...140,888,344
Ensembl chr  X:140,878,216...140,888,795
JBrowse link
G Zic5 Zic family member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15136147 NCBI chr15:108,891,992...108,907,601
Ensembl chr15:108,891,992...108,898,703
JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17152860 NCBI chr 5:139,982,404...140,015,541
Ensembl chr 5:139,983,680...140,015,541
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 1:265,492,949...265,498,965
Ensembl chr 1:265,493,124...265,498,831
JBrowse link
G Six1 SIX homeobox 1 ISO RGD PMID:21364285 RGD:11561941 NCBI chr 6:95,929,060...95,934,296
Ensembl chr 6:95,929,060...95,934,296
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 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696
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 chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
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 chr11:81,711,269...81,717,594 JBrowse link
G Colec11 collectin sub-family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr 6:47,857,767...47,889,961
Ensembl chr 6:47,857,771...47,890,033
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 chr11:81,796,891...81,802,172
Ensembl chr11:81,796,891...81,802,172
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 chr11:81,741,342...81,757,806
Ensembl chr11:81,741,297...81,757,813
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 chr11:81,373,047...81,379,680
Ensembl chr11:81,373,048...81,379,871
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 chr11:81,648,890...81,660,472
Ensembl chr11:81,648,885...81,660,395
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 chr11:81,621,274...81,639,938
Ensembl chr11:81,621,283...81,639,952
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 chr11:81,509,185...81,516,759 JBrowse link
G Masp1 mannan-binding lectin serine peptidase 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, PMID:25741868, PMID:28492532, PMID:28794230, PMID:29407414 NCBI chr11:80,736,424...80,806,278
Ensembl chr11:80,736,576...80,803,382
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 chr11:81,358,592...81,373,044
Ensembl chr11:81,358,592...81,373,043
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 chr10:5,529,580...5,533,695
Ensembl chr10:5,529,589...5,533,695
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 chr11:80,823,989...80,826,505
Ensembl chr11:80,823,989...80,826,505
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 chr11:80,927,601...80,981,424
Ensembl chr11:80,927,601...80,981,422
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 chr11:81,757,963...81,794,367
Ensembl chr11:81,757,983...81,794,580
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 6:47,857,767...47,889,961
Ensembl chr 6:47,857,771...47,890,033
JBrowse link
G Masp1 mannan-binding lectin serine peptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr11:80,736,424...80,806,278
Ensembl chr11:80,736,576...80,803,382
JBrowse link
G Slc26a2 solute carrier family 26 member 2 ISO ClinVar Annotator: match by term: OSA syndrome ClinVar PMID:8528239, PMID:8571951, PMID:8931695, PMID:9342225, PMID:10465113, PMID:10482955, PMID:11241838, PMID:11303514, PMID:11448940, PMID:11565064, PMID:12525546, PMID:12966518, PMID:15294877, PMID:15316973, PMID:16642506, PMID:18708426, PMID:18925670, PMID:20219950, PMID:20301524, PMID:20525296, PMID:21077202, PMID:21077204, PMID:21155763, PMID:21922596, PMID:22052783, PMID:23840040, PMID:24033266, PMID:24598000, PMID:25741868, PMID:27065010, PMID:28492532, PMID:29024831 NCBI chr18:56,518,999...56,534,539
Ensembl chr18:56,520,740...56,534,415
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 7:93,975,451...94,035,999
Ensembl chr 7:93,975,451...94,035,999
JBrowse link
G Colec11 collectin sub-family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr 6:47,857,767...47,889,961
Ensembl chr 6:47,857,771...47,890,033
JBrowse link
G Masp1 mannan-binding lectin serine peptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr11:80,736,424...80,806,278
Ensembl chr11:80,736,576...80,803,382
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:78,731,738...78,782,542
Ensembl chr  X:78,769,419...78,782,542
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 chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
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: Acrocephaly, skull asymmetry, and mild syndactyly
ClinVar Annotator: match by term: Apert syndrome
ClinVar Annotator: match by term: Craniofacial-skeletal-dermatologic dysplasia
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, PMID:7719345, PMID:7773284, PMID:7874170, PMID:7987400, PMID:8650126, PMID:8651276, PMID:8696350, PMID:8755573, PMID:8946174, PMID:8957519, PMID:9002682, PMID:9150725, PMID:9462761, PMID:9475591, PMID:9502772, PMID:9677057, PMID:9700203, PMID:9719378, PMID:9973282, PMID:10394936, PMID:10851026, PMID:11121055, PMID:11390973, PMID:11781872, PMID:12000365, PMID:12124745, PMID:12145519, PMID:12400058, PMID:12900900, PMID:14499350, PMID:15286168, PMID:15316116, PMID:15389579, PMID:15863034, PMID:15975938, PMID:16158432, PMID:16418739, PMID:16440883, PMID:16531735, PMID:16838304, PMID:16969861, PMID:17251833, PMID:17264867, PMID:17525745, PMID:17694057, PMID:18552176, PMID:18618990, PMID:19186770, PMID:20133659, PMID:20301628, PMID:20489451, PMID:20503384, PMID:20856019, PMID:21367659, PMID:21397175, PMID:22238366, PMID:22558232, PMID:22664175, PMID:23002168, PMID:23431754, PMID:23495007, PMID:23546041, PMID:23786770, PMID:24036790, PMID:24127277, PMID:24489893, PMID:24656465, PMID:24728327, PMID:25157968, PMID:25271085, PMID:25425289, PMID:25706251, PMID:25741868, PMID:25867380, PMID:25937001, PMID:26380986, PMID:26429889, PMID:26467025, PMID:26619011, PMID:27079505, PMID:27683237, PMID:28492532, PMID:30311386, PMID:31145570, PMID:10735635, PMID:23532954, PMID:17694057, PMID:9677057, PMID:7668257 RGD:12801488, RGD:12801475, RGD:12801474, RGD:12801413, RGD:8547743 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
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 6:53,401,241...53,403,235
Ensembl chr 6:53,401,109...53,403,214
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 4:99,822,964...99,903,969
Ensembl chr 4:99,823,252...99,887,132
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, PMID:29198722 NCBI chr 2:38,978,042...39,042,886
Ensembl chr 2:38,979,865...39,007,976
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 7:117,730,307...117,733,076
Ensembl chr 7:117,730,307...117,732,387
JBrowse link
G Prrx1 paired related homeobox 1 ISO 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, PMID:25741868 NCBI chr13:81,147,038...81,215,559
Ensembl chr13:81,147,348...81,214,546
JBrowse link
G Trappc10 trafficking protein particle complex 10 ISS OMIM:202650 MouseDO NCBI chr20:11,168,298...11,228,634
Ensembl chr20:11,168,298...11,228,625
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 OMIM
ClinVar
PMID:25701870, PMID:25712129, PMID:25741868, PMID:28492532, PMID:30289615 NCBI chr 8:36,321,992...36,374,665
Ensembl chr 8:36,321,993...36,374,673
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:30311386, PMID:32860008 NCBI chr 2:231,866,888...231,882,002
Ensembl chr 2:231,867,135...231,881,939
JBrowse link
Alazami-Yuan Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Taf6 TATA-box binding protein associated factor 6 ISO ClinVar Annotator: match by term: Alazami-Yuan syndrome ClinVar
OMIM
PMID:25558065, PMID:25574841, PMID:30311386 NCBI chr12:19,320,269...19,328,706
Ensembl chr12:19,320,271...19,328,637
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, PMID:28492532 NCBI chr10:104,166,594...104,179,523
Ensembl chr10:104,166,598...104,179,523
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:112,405,647...112,768,337
Ensembl chr  X:112,405,647...112,473,822
JBrowse link
Ankyloblepharon Filiforme Adnatum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Ankyloblepharon filiforme adnatum ClinVar PMID:30311386 NCBI chr 9:88,357,528...88,484,735
Ensembl chr 9:88,357,556...88,485,830
JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Ankyloblepharon filiforme adnatum ClinVar PMID:30311386 NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
JBrowse link
G Ctnnd1 catenin delta 1 ISO ClinVar Annotator: match by term: Ankyloblepharon filiforme adnatum ClinVar PMID:30311386 NCBI chr 3:72,001,904...72,053,047
Ensembl chr 3:72,002,152...72,053,049
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, PMID:19353588, PMID:19676059, PMID:19793345, PMID:21615690, PMID:28492532, PMID:11159940 RGD:11568643 NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
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
OMIM
PMID:29432562 NCBI chr 2:241,909,332...242,186,861
Ensembl chr 2:241,909,832...242,184,854
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:27469131, PMID:27522229, PMID:28492532, PMID:28776279, PMID:29375865, PMID:29405484 NCBI chr 4:33,742,876...33,761,106
Ensembl chr 4:33,743,364...33,761,163
JBrowse link
Au-Kline Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnrnpk heterogeneous nuclear ribonucleoprotein K ISO ClinVar Annotator: match by term: AU-KLINE SYNDROME OMIM
ClinVar
PMID:8833161, PMID:9218800, PMID:9234727, PMID:10523673, PMID:10817758, PMID:10995551, PMID:11574481, PMID:11867641, PMID:11891683, PMID:12183465, PMID:12853611, PMID:15170860, PMID:15284851, PMID:15364910, PMID:16488668, PMID:18054780, PMID:18414213, PMID:19170760, PMID:19348700, PMID:19854944, PMID:20116073, PMID:21800092, PMID:22102872, PMID:23455423, PMID:24253303, PMID:24288371, PMID:24501764, PMID:24990929, PMID:25741868, PMID:26173930, PMID:26220823, PMID:26954065, PMID:28374925, PMID:28771707, PMID:29904177, PMID:30998304 NCBI chr17:6,664,730...6,676,753
Ensembl chr17:6,665,659...6,676,654
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 chr10:89,897,087...89,900,131
Ensembl chr10:89,897,087...89,900,131
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 OMIM:180700 MouseDO NCBI chr 5:173,295,948...173,308,014
Ensembl chr 5:173,296,270...173,307,945
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 chr11:84,051,177...84,068,479
Ensembl chr11:84,051,078...84,068,302
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 NCBI chr17:11,953,552...12,134,386
Ensembl chr17:11,953,552...12,134,386
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, PMID:25326635, PMID:25741868, PMID:28492532, PMID:29276006, PMID:30311386, PMID:30760477 NCBI chr16:4,469,451...4,490,271
Ensembl chr16:4,469,468...4,489,860
JBrowse link
autosomal dominant Robinow syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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:25817014, PMID:25817016, PMID:26924530, PMID:28492532, PMID:29276006 NCBI chr 5:173,295,948...173,308,014
Ensembl chr 5:173,296,270...173,307,945
JBrowse link
G Dvl3 dishevelled segment polarity protein 3 ISO ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 2 ClinVar PMID:29276006 NCBI chr11:84,051,177...84,068,479
Ensembl chr11:84,051,078...84,068,302
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 chr10:90,550,147...90,552,057
Ensembl chr10:90,550,147...90,552,057
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 chr11:84,051,177...84,068,479
Ensembl chr11:84,051,078...84,068,302
JBrowse link
G Fzd2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 3 ClinVar PMID:29276006 NCBI chr10:90,550,147...90,552,057
Ensembl chr10:90,550,147...90,552,057
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 chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
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 7:134,702,964...134,799,437
Ensembl chr 7:134,702,964...134,722,215
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, PMID:16049033, PMID:17665217, PMID:18252861, PMID:18414213, PMID:18831060, PMID:19640924, PMID:25741868, PMID:26284319, PMID:28492532, PMID:24932600, PMID:14745966, PMID:18353862 RGD:11537348, RGD:11537347, RGD:11535948 NCBI chr17:11,953,552...12,134,386
Ensembl chr17:11,953,552...12,134,386
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:29276006 NCBI chr10:64,411,710...64,550,147
Ensembl chr10:64,412,833...64,550,145
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 chr17:33,947,501...33,951,484
Ensembl chr17:33,947,506...33,951,484
JBrowse link
G Hmgn2 high mobility group nucleosomal binding domain 2 ISS OMIM:180500 MouseDO NCBI chr 5:152,195,359...152,198,813
Ensembl chr 5:152,195,361...152,198,813
JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
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, PMID:11301317, PMID:11487566, PMID:12612071, PMID:14623826, PMID:14630904, PMID:15378534, PMID:15728254, PMID:16498627, PMID:18045789, PMID:18723525, PMID:19052653, PMID:20881294, PMID:22569110, PMID:25741868, PMID:26220699, PMID:28492532, PMID:29100920 NCBI chr 2:233,602,732...233,621,059
Ensembl chr 2:233,602,732...233,621,129
JBrowse link
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 4:96,659,062...96,810,816
Ensembl chr 4:96,659,084...96,812,263
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 OMIM
ClinVar
PMID:9878247, PMID:10319867, PMID:10678659, PMID:12734318, PMID:12838562, PMID:12952869, PMID:15897384, PMID:15964893, PMID:16681588, PMID:17250975, PMID:17372760, PMID:18504617, PMID:18616953, PMID:18647888, PMID:18716613, PMID:19291770, PMID:20503338, PMID:21143835, PMID:21418107, PMID:22730300, PMID:22885111, PMID:23238538, PMID:23899764, PMID:24033266, PMID:24518840, PMID:24635570, PMID:24728327, PMID:25120469, PMID:25741868, PMID:25966250, PMID:26556299, PMID:27247962, PMID:27352193, PMID:28039508, PMID:28076423, PMID:28202063, PMID:28358413, PMID:28486640, PMID:28492532, PMID:28653661, PMID:29168297, PMID:29462647, PMID:29642415, PMID:30086788, PMID:30306255, PMID:30311386, PMID:30651579 NCBI chr 7:117,765,892...117,773,128
Ensembl chr 7:117,763,783...117,773,134
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 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
JBrowse link
G Foxe1 forkhead box E1 ISO 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, PMID:21177256, PMID:25381600, PMID:25741868, PMID:28492532 NCBI chr 5:61,954,549...61,957,357
Ensembl chr 5:61,954,549...61,957,357
JBrowse link
Bannayan-Riley-Ruvalcaba syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA
ClinVar PMID:15930273, PMID:17376864, PMID:19366826, PMID:21824802, PMID:22120714, PMID:22729224, PMID:22949682, PMID:24033266, PMID:25157968, PMID:25741868, PMID:26619011, PMID:27631024, PMID:28492532, PMID:28941273, PMID:30311386, PMID:31568861 NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
JBrowse link
G Pten phosphatase and tensin homolog ISO
ISS
ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome
ClinVar Annotator: match by term: RUVALCABA-MYHRE-SMITH SYNDROME
ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA
OMIM:153480
ClinVar
MouseDO
PMID:9140396, PMID:9241266, PMID:9259288, PMID:9399897, PMID:9467011, PMID:9598803, PMID:10232405, PMID:10353779, PMID:10400993, PMID:10468583, PMID:10555148, PMID:10749983, PMID:10848731, PMID:10920277, PMID:10923032, PMID:11238682, PMID:11504908, PMID:11685670, PMID:12844284, PMID:14518070, PMID:15016963, PMID:15211648, PMID:15254419, PMID:15647370, PMID:15805158, PMID:16952599, PMID:17286265, PMID:17392703, PMID:17427195, PMID:17526800, PMID:17873882, PMID:18558293, PMID:18725974, PMID:19265751, PMID:19340001, PMID:19351834, PMID:19366826, PMID:19458356, PMID:19668082, PMID:19829307, PMID:19903786, PMID:20018398, PMID:20085938, PMID:20453058, PMID:20619739, PMID:20881644, PMID:21194675, PMID:21956414, PMID:22162582, PMID:22162589, PMID:22252256, PMID:22381246, PMID:22479427, PMID:22491738, PMID:23335809, PMID:23349303, PMID:23442912, PMID:23470840, PMID:23475934, PMID:23695273, PMID:24033266, PMID:24052722, PMID:24136893, PMID:24778394, PMID:25022750, PMID:25132236, PMID:25157968, PMID:25288137, PMID:25326635, PMID:25669429, PMID:25741868, PMID:25756585, PMID:26773036, PMID:27426521, PMID:27477328, PMID:28286253, PMID:28492532, PMID:28526761, PMID:30287823, PMID:32238909 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA ClinVar PMID:18678321, PMID:21565294, PMID:21979946, PMID:28492532, PMID:29386252 NCBI chr 8:55,028,125...55,037,604
Ensembl chr 8:55,028,125...55,037,604
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:10411937, PMID:12325076, PMID:16685646, PMID:22366783, PMID:22495914, PMID:23649928, PMID:23756437, PMID:25052316, PMID:25156961, PMID:25741868, PMID:27240540, PMID:27868373, PMID:28492532 NCBI chr12:13,715,843...13,718,813
Ensembl chr12:13,715,843...13,718,841
JBrowse link
G Actg1 actin, gamma 1 ISS OMIM:243310 | OMIM:614583 MouseDO NCBI chr10:109,518,429...109,521,288
Ensembl chr 3:75,643,054...75,644,954
Ensembl chr10:75,643,054...75,644,954
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: Iris coloboma with ptosis, hypertelorism, and mental retardation
ClinVar Annotator: match by OMIM:243310
OMIM
ClinVar
PMID:1415343, PMID:10327243, PMID:10411937, PMID:10928857, PMID:11311002, PMID:12325076, PMID:16685646, PMID:18414213, PMID:22366783, PMID:22495914, PMID:23649928, PMID:23756437, PMID:24033266, PMID:25052316, PMID:25156961, PMID:25741868, PMID:26467025, PMID:27240540, PMID:27868373, PMID:28492532, PMID:29220674, PMID:29261186, PMID:32860008 NCBI chr12:13,715,843...13,718,813
Ensembl chr12:13,715,843...13,718,841
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, PMID:25741868 NCBI chr10:109,518,429...109,521,288
Ensembl chr 3:75,643,054...75,644,954
Ensembl chr10:75,643,054...75,644,954
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, PMID:20799330, PMID:20830793, PMID:26119818 NCBI chr 9:98,924,134...98,968,510
Ensembl chr 9:98,924,134...98,968,510
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 1:100,872,240...100,887,864
Ensembl chr 1:100,874,976...100,887,853
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: Cutis Gyrata syndrome of Beare and Stevenson
ClinVar Annotator: match by term: Beare-Stevenson cutis gyrata syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
OMIM
ClinVar
CTD
PMID:7558045, PMID:7719344, PMID:7773284, PMID:7874170, PMID:7987400, PMID:8651276, PMID:8696350, PMID:8957519, PMID:9462761, PMID:9719378, PMID:10851026, PMID:11121055, PMID:11390973, PMID:11781872, PMID:12000365, PMID:12124745, PMID:12145519, PMID:12900900, PMID:14499350, PMID:15975938, PMID:16158432, PMID:16440883, PMID:16531735, PMID:16838304, PMID:17264867, PMID:17449949, PMID:17525745, PMID:18247426, PMID:18552176, PMID:19610084, PMID:20301628, PMID:20856019, PMID:21367659, PMID:21397175, PMID:22238366, PMID:22664175, PMID:23002168, PMID:23495007, PMID:23546041, PMID:24127277, PMID:24489893, PMID:24728327, PMID:25157968, PMID:25271085, PMID:25425289, PMID:25706251, PMID:25741868, PMID:25867380, PMID:25937001, PMID:26380986, PMID:26429889, PMID:26467025, PMID:26619011, PMID:27079505, PMID:28492532, PMID:31145570 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
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
ClinVar Annotator: match by OMIM:613680
OMIM
ClinVar
PMID:11060033, PMID:15998806, PMID:18414213, PMID:19059247, PMID:20503307, PMID:23621916, PMID:25741868, PMID:26739162, PMID:27102954, PMID:27295358, PMID:30238602, PMID:30476144 NCBI chr10:12,989,135...12,994,495
Ensembl chr10:12,989,135...12,994,495
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 4:174,605,462...174,774,692
Ensembl chr 4:174,605,476...174,774,693
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 NCBI chr 7:113,894,918...113,938,397
Ensembl chr 7:113,903,557...113,937,941
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:27566442, PMID:28301459, PMID:32260281 NCBI chr19:38,768,467...38,838,395
Ensembl chr19:38,768,467...38,838,395
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 3:72,001,904...72,053,047
Ensembl chr 3:72,002,152...72,053,049
JBrowse link
Bohring Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asxl1 ASXL transcriptional regulator 1 ISO ClinVar Annotator: match by term: Bohring syndrome
ClinVar Annotator: match by term: C-like syndrome
ClinVar Annotator: match by OMIM:605039
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:18414213, PMID:21706002, PMID:22419483, PMID:25131622, PMID:25326635, PMID:25741868, PMID:26633542, PMID:28492532, PMID:30311386 NCBI chr 3:148,832,231...148,902,356
Ensembl chr 3:148,837,814...148,900,452
JBrowse link
G Klhl7 kelch-like family member 7 ISO ClinVar Annotator: match by term: C-like syndrome ClinVar PMID:25741868 NCBI chr 4:7,532,881...7,582,032
Ensembl chr 4:7,532,889...7,582,207
JBrowse link
Brachycephalofrontonasal Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like ISO ClinVar Annotator: match by term: Brachycephalofrontonasal dysplasia
ClinVar Annotator: match by term: Hypertelorism, Teebi type
ClinVar
OMIM
PMID:17506099, PMID:25412741, PMID:25741868, PMID:25741869, PMID:26111080, PMID:28492532 NCBI chr20:14,287,470...14,393,879
Ensembl chr20:14,287,457...14,393,793
JBrowse link
Brachycephaly, Trichomegaly, and Developmental Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps23 ribosomal protein S23 ISO ClinVar Annotator: match by term: MACINNES SYNDROME ClinVar
OMIM
PMID:28257692 NCBI chr 2:19,823,234...19,824,804
Ensembl chr 2:19,823,234...19,824,804
JBrowse link
Brain Small Vessel Disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Porencephaly 2
ClinVar Annotator: match by term: Acquired porencephaly
ClinVar PMID:18077766, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Porencephaly 2
ClinVar Annotator: match by term: Acquired porencephaly
ClinVar Annotator: match by OMIM:614483
OMIM
ClinVar
PMID:22209246, PMID:22209247, PMID:22333902, PMID:22914737, PMID:24001601, PMID:24390199, PMID:24646874, PMID:25326635, PMID:25653287, PMID:25719457, PMID:25741868, PMID:26467025, PMID:26708157, PMID:28492532, PMID:30311386, PMID:30315939 NCBI chr16:83,386,388...83,522,169
Ensembl chr16:83,387,364...83,438,561
JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Acquired porencephaly ClinVar PMID:25741868 NCBI chr 5:164,720,629...164,747,071
Ensembl chr 5:164,720,587...164,747,083
JBrowse link
Burn-McKeown syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adnp2 ADNP homeobox 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:76,637,415...76,661,186
Ensembl chr18:76,637,785...76,653,056
JBrowse link
G Atp9b ATPase phospholipid transporting 9B (putative) ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:77,343,551...77,535,608
Ensembl chr18:77,343,551...77,535,593
JBrowse link
G Ctdp1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:76,922,913...76,985,095
Ensembl chr18:76,922,934...76,984,203
JBrowse link
G Galr1 galanin receptor 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:79,243,009...79,258,570
Ensembl chr18:79,243,009...79,258,570
JBrowse link
G Hsbp1l1 heat shock factor binding protein 1-like 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:76,748,067...76,754,642
Ensembl chr18:76,748,067...76,753,902
JBrowse link
G Kcng2 potassium voltage-gated channel modifier subfamily G member 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:76,808,294...76,880,742
Ensembl chr18:76,809,144...76,878,981
JBrowse link
G Mbp myelin basic protein ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:79,326,738...79,437,310
Ensembl chr18:79,326,738...79,437,310
JBrowse link
G Nfatc1 nuclear factor of activated T-cells 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:77,203,517...77,322,690
Ensembl chr18:77,203,525...77,322,690
JBrowse link
G Pard6g par-6 family cell polarity regulator gamma ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:76,559,877...76,627,843
Ensembl chr18:76,559,811...76,628,041
JBrowse link
G Rbfa ribosome binding factor A ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:76,704,223...76,714,387
Ensembl chr18:76,704,220...76,714,486
JBrowse link
G Sall3 spalt-like transcription factor 3 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:77,572,200...77,591,710
Ensembl chr18:77,573,702...77,579,969
JBrowse link
G Slc66a2 solute carrier family 66 member 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:76,768,466...76,805,773
Ensembl chr18:76,770,012...76,805,766
JBrowse link
G Txnl4a thioredoxin-like 4A ISO ClinVar Annotator: match by term: Burn-Mckeown syndrome
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
OMIM
PMID:1342861, PMID:14564154, PMID:16523509, PMID:25434003 NCBI chr18:76,725,221...76,740,673
Ensembl chr18:76,725,247...76,740,688
JBrowse link
G Zfp236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:79,447,384...79,543,271
Ensembl chr18:79,451,204...79,543,219
JBrowse link
G Zfp516 zinc finger protein 516 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:79,768,387...79,857,909
Ensembl chr18:79,773,608...79,854,192
JBrowse link
C syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd96 CD96 molecule ISO ClinVar Annotator: match by term: C syndrome
ClinVar Annotator: match by OMIM:211750
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:17847009, PMID:25741868, PMID:28492532 NCBI chr11:57,108,757...57,183,855
Ensembl chr11:57,108,956...57,183,270
JBrowse link
Carey-Fineman-Ziter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mymk myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Congenital nonprogressive myopathy with Moebius and Robin sequences ClinVar
OMIM
PMID:7131178, PMID:25741868, PMID:28681861, PMID:29560417, PMID:30016436 NCBI chr 3:5,608,243...5,617,689
Ensembl chr 3:5,608,243...5,617,225
JBrowse link
Carpenter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bag2 BAG cochaperone 2 ISO ClinVar Annotator: match by term: Carpenter syndrome ClinVar NCBI chr 9:38,456,487...38,467,120
Ensembl chr 9:38,456,468...38,467,118
JBrowse link
G Megf8 multiple EGF-like-domains 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:82,184,671...82,234,045
Ensembl chr 1:82,185,034...82,234,045
JBrowse link
G Rab23 RAB23, member RAS oncogene family ISO ClinVar Annotator: match by term: Carpenter syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:3322002, PMID:3993675, PMID:15129947, PMID:17503333, PMID:20358613, PMID:21412941, PMID:23599695, PMID:24458945, PMID:25168863, PMID:25741868, PMID:28492532 NCBI chr 9:38,469,784...38,496,185
Ensembl chr 9:38,470,298...38,495,176
JBrowse link
Carpenter Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bag2 BAG cochaperone 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 1 ClinVar NCBI chr 9:38,456,487...38,467,120
Ensembl chr 9:38,456,468...38,467,118
JBrowse link
G Rab23 RAB23, member RAS oncogene family ISO ClinVar Annotator: match by term: Carpenter syndrome 1
ClinVar Annotator: match by OMIM:201000
OMIM
ClinVar
PMID:3322002, PMID:3993675, PMID:15129947, PMID:17503333, PMID:20358613, PMID:21412941, PMID:23599695, PMID:24458945, PMID:25168863, PMID:25741868, PMID:28492532 NCBI chr 9:38,469,784...38,496,185
Ensembl chr 9:38,470,298...38,495,176
JBrowse link
Carpenter Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Megf8 multiple EGF-like-domains 8 ISO ClinVar Annotator: match by term: Carpenter syndrome 2
ClinVar Annotator: match by OMIM:614976
OMIM
ClinVar
PMID:23063620, PMID:25326635, PMID:25741868, PMID:28492532 NCBI chr 1:82,184,671...82,234,045
Ensembl chr 1:82,185,034...82,234,045
JBrowse link
Catel Manzke Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kynu kynureninase ISO ClinVar Annotator: match by term: Catel Manzke syndrome ClinVar PMID:25741868, PMID:31923704 NCBI chr 3:28,416,926...28,566,939
Ensembl chr 3:28,416,954...28,566,928
JBrowse link
G Tgds TDP-glucose 4,6-dehydratase ISO ClinVar Annotator: match by term: Catel Manzke syndrome ClinVar
OMIM
PMID:9777339, PMID:14564220, PMID:18501694, PMID:21834032, PMID:22887726, PMID:24326962, PMID:25480037, PMID:25741868, PMID:26366375, PMID:28422407 NCBI chr15:103,319,268...103,340,239
Ensembl chr15:103,319,268...103,340,240
JBrowse link
CATIFA Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ermp1 endoplasmic reticulum metallopeptidase 1 ISO ClinVar Annotator: match by term: CLEFT LIP, CATARACT, TOOTH ABNORMALITY, IMPAIRED INTELLECTUAL DEVELOPMENT, FACIAL DYSMORPHISM, AND ATTENTION-DEFICIT HYPERACTIVITY DISORDER ClinVar PMID:27878435, PMID:31932796 NCBI chr 1:247,784,830...247,821,771
Ensembl chr 1:247,787,582...247,821,728
JBrowse link
G Ric1 RIC1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: CLEFT LIP, CATARACT, TOOTH ABNORMALITY, IMPAIRED INTELLECTUAL DEVELOPMENT, FACIAL DYSMORPHISM, AND ATTENTION-DEFICIT HYPERACTIVITY DISORDER OMIM
ClinVar
PMID:27878435, PMID:31932796 NCBI chr 1:247,688,778...247,784,219
Ensembl chr 1:247,688,789...247,781,875
JBrowse link
CEBALID Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mn1 MN1 proto-oncogene, transcriptional regulator ISO ClinVar Annotator: match by term: CEBALID SYNDROME ClinVar
OMIM
PMID:7731705, PMID:7731706, PMID:11094079, PMID:11559848, PMID:12569362, PMID:15870292, PMID:15890672, PMID:18948418, PMID:19344873, PMID:19386590, PMID:19919682, PMID:22436304, PMID:22451504, PMID:22965664, PMID:24075189, PMID:25549701, PMID:25741868, PMID:31834374, PMID:31839203 NCBI chr12:51,214,192...51,250,230
Ensembl chr12:51,214,192...51,250,230
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: CEBALID syndrome
ClinVar Annotator: match by term: CRANIOFACIAL DEFECTS, DYSMORPHIC EARS, STRUCTURAL BRAIN ABNORMALITIES, EXPRESSIVE LANGUAGE DELAY, AND IMPAIRED INTELLECTUAL DEVELOPMENT
ClinVar PMID:7550332, PMID:7809080, PMID:8660990, PMID:9326330, PMID:11092830, PMID:12974736, PMID:15254238, PMID:15314020, PMID:15467718, PMID:15755954, PMID:15805158, PMID:16647875, PMID:17286265, PMID:18354181, PMID:19854944, PMID:19963289, PMID:20731814, PMID:22023617, PMID:22053105, PMID:22552098, PMID:22654878, PMID:22729223, PMID:23161681, PMID:23209702, PMID:23516405, PMID:23555892, PMID:23934111, PMID:24497577, PMID:24625776, PMID:24631838, PMID:25473036, PMID:25533962, PMID:25599672, PMID:25741868, PMID:25799227, PMID:25851998, PMID:26542245, PMID:26619011, PMID:27159400, PMID:27513193, PMID:27753196, PMID:27830187, PMID:28475857, PMID:28492532, PMID:28892148, PMID:29051493, PMID:32581362 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link
Cerebellar, Ocular, Craniofacial, and Genital Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mab21l1 mab-21 like 1 ISO ClinVar Annotator: match by term: CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME OMIM
ClinVar
PMID:23374822, PMID:27075597, PMID:27103078, PMID:30487245 NCBI chr 2:145,174,876...145,177,265
Ensembl chr 2:145,174,876...145,177,265
JBrowse link
G Nbea neurobeachin ISO ClinVar Annotator: match by term: CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME ClinVar PMID:23374822, PMID:27075597, PMID:27103078, PMID:30487245 NCBI chr 2:145,011,648...145,513,439 JBrowse link
cerebral cavernous malformation 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccm2 CCM2 scaffold protein ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 2 OMIM
ClinVar
PMID:2468908, PMID:14624391, PMID:14740320, PMID:15122722, PMID:17160895, PMID:18060436, PMID:18300272, PMID:19088123, PMID:19088124, PMID:20419355, PMID:23595507, PMID:24466005, PMID:25525273, PMID:25741868, PMID:26467025, PMID:27153162, PMID:27561926, PMID:27792856, PMID:28492532, PMID:32860008 NCBI chr14:86,812,728...86,859,408
Ensembl chr14:86,813,082...86,859,406
JBrowse link
G Nacad NAC alpha domain containing ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 2 ClinVar PMID:17160895, PMID:28492532 NCBI chr14:86,860,607...86,868,605
Ensembl chr14:86,860,608...86,868,598
JBrowse link
cerebral cavernous malformation 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdcd10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 3 OMIM
ClinVar
PMID:15543491, PMID:18035376, PMID:18060436, PMID:20623299, PMID:23485406, PMID:23595507, PMID:23801932, PMID:25354366, PMID:25741868, PMID:26896283, PMID:28492532, PMID:30161288 NCBI chr 2:173,966,701...174,012,730
Ensembl chr 2:173,967,080...174,012,676
JBrowse link
G Serpini1 serpin family I member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 3 ClinVar PMID:18060436, PMID:20623299, PMID:28492532 NCBI chr 2:174,013,058...174,111,693
Ensembl chr 2:174,013,288...174,111,752
JBrowse link
cerebrocostomandibular syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snrpb small nuclear ribonucleoprotein polypeptides B and B1 ISO ClinVar Annotator: match by term: RIB GAP DEFECTS WITH MICROGNATHIA ClinVar
OMIM
PMID:25047197, PMID:25504470, PMID:26240113, PMID:26971886 NCBI chr 3:122,696,125...122,703,734
Ensembl chr 3:122,695,939...122,703,734
JBrowse link
Cerebrooculofacioskeletal Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO DNA:missense mutations:p.R616W, p.D681N (human)
ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2
ClinVar Annotator: match by OMIM:610756
ClinVar
OMIM
PMID:7585650, PMID:7920640, PMID:8571952, PMID:9101292, PMID:9238033, PMID:11156600, PMID:11443545, PMID:11710928, PMID:12820975, PMID:15494306, PMID:18470933, PMID:18603627, PMID:18628313, PMID:18637129, PMID:20944642, PMID:22826098, PMID:23221806, PMID:23232694, PMID:23800062, PMID:24033266, PMID:24252196, PMID:24448499, PMID:24728327, PMID:25620205, PMID:25716912, PMID:25741868, PMID:26556299, PMID:27004399, PMID:27745642, PMID:29478780, PMID:11443545 RGD:1601070 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
Cerebrooculofacioskeletal Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4
ClinVar Annotator: match by OMIM:610758
OMIM
ClinVar
PMID:17273966, PMID:23623389, PMID:25741868, PMID:28492532 NCBI chr 1:80,256,973...80,268,198
Ensembl chr 1:80,256,973...80,268,198
JBrowse link
G Polr1g RNA polymerase I subunit G ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4 ClinVar PMID:25741868, PMID:28492532 NCBI chr 1:80,267,725...80,271,001
Ensembl chr 1:80,267,725...80,271,001
JBrowse link
cherubism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam193a family with sequence similarity 193, member A ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:81,515,897...81,638,919
Ensembl chr14:81,516,407...81,638,934
JBrowse link
G Haus3 HAUS augmin-like complex, subunit 3 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:81,837,772...81,857,458
Ensembl chr14:81,837,809...81,856,830
JBrowse link
G Mxd4 Max dimerization protein 4 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:81,819,415...81,833,456
Ensembl chr14:81,819,415...81,833,456
JBrowse link
G Nat8l N-acetyltransferase 8-like ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:82,041,616...82,048,251
Ensembl chr14:82,041,616...82,048,251
JBrowse link
G Poln DNA polymerase nu ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:81,837,764...82,037,999
Ensembl chr14:81,858,737...82,037,747
JBrowse link
G Rit1 Ras-like without CAAX 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar NCBI chr 2:188,087,486...188,099,444
Ensembl chr 2:188,087,486...188,099,444
JBrowse link
G Rnf4 ring finger protein 4 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:81,658,400...81,679,756
Ensembl chr14:81,660,354...81,679,082
JBrowse link
G Sh3bp2 SH3-domain binding protein 2 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar Annotator: match by term: Cherubism
ClinVar Annotator: match by OMIM:118400
ClinVar
OMIM
PMID:11381256, PMID:12900899, PMID:14577811, PMID:16786512, PMID:17321449, PMID:18596838, PMID:21045962, PMID:21794028, PMID:22153076, PMID:22153077, PMID:22795151, PMID:23298620, PMID:24033266, PMID:24382142, PMID:24608212, PMID:24916406, PMID:25144740, PMID:25741868, PMID:26064398, PMID:27272835, PMID:28492532, PMID:28644570, PMID:30236129, PMID:11381256 RGD:1599339 NCBI chr14:81,435,445...81,473,013
Ensembl chr14:81,435,449...81,472,952
JBrowse link
G Tnip2 TNFAIP3 interacting protein 2 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:81,487,934...81,505,889
Ensembl chr14:81,488,008...81,504,686
JBrowse link
G Zfyve28 zinc finger FYVE-type containing 28 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:81,725,513...81,811,142
Ensembl chr14:81,725,513...81,811,142
JBrowse link
CHITAYAT SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: CHITAYAT SYNDROME ClinVar
OMIM
PMID:8418638, PMID:27738187 NCBI chr 1:82,112,449...82,120,902
Ensembl chr 1:82,112,449...82,120,902
JBrowse link
Christianson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:15499549, PMID:16015284, PMID:16813600, PMID:18414213, PMID:19241098, PMID:19564592, PMID:20397747, PMID:20479760, PMID:21160487, PMID:21775177, PMID:22867051, PMID:23064044, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr  X:35,536,396...35,773,204
Ensembl chr  X:35,599,258...35,771,711
JBrowse link
G Hivep2 HIVEP zinc finger 2 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:25741868 NCBI chr 1:8,129,354...8,333,890
Ensembl chr 1:8,310,577...8,333,885
JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:15499549, PMID:16813600, PMID:18414213, PMID:19241098, PMID:20479760, PMID:21160487, PMID:21775177, PMID:22867051, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr  X:35,749,957...35,777,243
Ensembl chr  X:35,749,957...35,777,243
JBrowse link
G Slc9a6 solute carrier family 9 member A6 ISO ClinVar Annotator: match by term: Christianson syndrome
ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type
ClinVar Annotator: match by OMIM:300243
OMIM
ClinVar
PMID:10528855, PMID:18342287, PMID:18414213, PMID:19471312, PMID:19619532, PMID:20395263, PMID:25044251, PMID:25167861, PMID:25741868, PMID:26467025, PMID:27256868, PMID:28492532, PMID:30311386, PMID:32581362, PMID:32860008 NCBI chr  X:158,979,081...159,045,019
Ensembl chr  X:158,978,755...159,045,044
JBrowse link
chromosome 13q14 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acod1 aconitate decarboxylase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:93,612,968...93,622,322
Ensembl chr15:93,612,971...93,622,358
JBrowse link
G Alg11 ALG11, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:74,854,007...74,866,096
Ensembl chr16:74,857,562...74,864,816
JBrowse link
G Arl11 ADP-ribosylation factor like GTPase 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:41,639,985...41,645,685
Ensembl chr15:41,643,541...41,645,685
JBrowse link
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:74,865,516...74,944,935
Ensembl chr16:74,865,516...74,945,286
JBrowse link
G Bora bora, aurora kinase A activator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:83,442,217...83,463,737
Ensembl chr15:83,442,144...83,463,717
JBrowse link
G Cab39l calcium binding protein 39-like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:39,745,124...39,849,022
Ensembl chr15:39,759,257...39,870,208
JBrowse link
G Ccdc70 coiled-coil domain containing 70 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:74,958,897...74,963,925
Ensembl chr16:74,958,897...74,963,044
JBrowse link
G Cdadc1 cytidine and dCMP deaminase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:39,865,094...39,894,122
Ensembl chr15:39,882,210...39,893,979
JBrowse link
G Ckap2 cytoskeleton associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:74,752,655...74,779,184
Ensembl chr16:74,752,655...74,779,184
JBrowse link
G Cln5 CLN5, intracellular trafficking protein ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:93,634,815...93,644,146 JBrowse link
G Cnmd chondromodulin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:61,923,291...61,947,840
Ensembl chr15:61,923,299...61,947,764
JBrowse link
G Commd6 COMM domain containing 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:86,136,096...86,142,672
Ensembl chr15:86,136,096...86,142,672
JBrowse link
G Cysltr2 cysteinyl leukotriene receptor 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:54,903,290...54,941,742
Ensembl chr15:54,905,274...54,906,203
JBrowse link
G Dach1 dachshund family transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:82,095,003...82,482,272
Ensembl chr15:82,099,159...82,482,009
JBrowse link
G Diaph3 diaphanous-related formin 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:69,928,507...70,400,077
Ensembl chr15:70,039,424...70,399,924
JBrowse link
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:83,466,330...83,494,107
Ensembl chr15:83,466,428...83,494,423
JBrowse link
G Dleu7 deleted in lymphocytic leukemia, 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:45,360,505...45,378,840
Ensembl chr15:45,360,503...45,376,476
JBrowse link
G Ebpl EBP like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:41,668,119...41,691,518
Ensembl chr15:41,668,119...41,691,518
JBrowse link
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
JBrowse link
G Fam124a family with sequence similarity 124 member A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:45,711,994...45,780,395
Ensembl chr15:45,712,821...45,780,405
JBrowse link
G Fbxl3 F-box and leucine-rich repeat protein 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:93,647,307...93,667,395
Ensembl chr15:93,647,310...93,667,395
JBrowse link
G Fndc3a fibronectin type III domain containing 3a ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:54,378,865...54,582,954
Ensembl chr15:54,381,044...54,528,480
JBrowse link
G Ints6 integrator complex subunit 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:45,844,050...45,929,996
Ensembl chr15:45,858,608...45,947,030
JBrowse link
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,254,703...55,277,713
Ensembl chr15:55,254,706...55,277,713
JBrowse link
G Kcnrg potassium channel regulator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:41,937,880...41,942,205
Ensembl chr15:41,937,880...41,942,205
JBrowse link
G Kctd12 potassium channel tetramerization domain containing 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:87,384,632...87,390,627 JBrowse link
G Klf12 Kruppel-like factor 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:84,316,986...84,748,549
Ensembl chr15:84,324,470...84,748,525
JBrowse link
G Klf5 Kruppel-like factor 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:83,703,796...83,722,921
Ensembl chr15:83,703,791...83,722,921
JBrowse link
G Klhl1 kelch-like family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:80,270,846...80,714,176
Ensembl chr15:80,271,731...80,713,153
JBrowse link
G Kpna3 karyopherin subunit alpha 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:41,696,356...41,770,112
Ensembl chr15:41,698,281...41,770,112
JBrowse link
G Lmo7 LIM domain 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:86,242,911...86,458,512
Ensembl chr15:86,243,148...86,457,739
JBrowse link
G Lpar6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,126,953...55,128,762
Ensembl chr15:55,126,953...55,128,761
JBrowse link
G Med4 mediator complex subunit 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,406,543...55,416,816
Ensembl chr15:55,406,543...55,416,815
JBrowse link
G Mycbp2 MYC binding protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:87,405,472...87,450,812
NCBI chr15:93,678,062...93,901,556
Ensembl chr15:87,506,959...93,868,301
JBrowse link
G Mzt1 mitotic spindle organizing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:83,429,437...83,442,118
Ensembl chr15:83,431,178...83,442,008
JBrowse link
G Ndfip2 Nedd4 family interacting protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:89,407,426...89,458,983
Ensembl chr15:89,407,426...89,458,983
JBrowse link
G Nek3 NIMA-related kinase 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:74,781,371...74,806,567
Ensembl chr16:74,785,281...74,806,149
JBrowse link
G Nek5 NIMA-related kinase 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:74,809,513...74,851,895
Ensembl chr16:74,810,938...74,848,113
JBrowse link
G Nudt15 nudix hydrolase 15 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,417,774...55,456,698
Ensembl chr15:55,419,502...55,456,698
JBrowse link
G Obi1 ORC ubiquitin ligase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:88,632,089...88,670,325
Ensembl chr15:88,631,794...88,670,349
JBrowse link
G Olfm4 olfactomedin 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:62,384,263...62,429,450
Ensembl chr15:62,406,873...62,429,449
JBrowse link
G Pcdh17 protocadherin 17 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:67,555,835...67,647,990
Ensembl chr15:67,555,835...67,645,088
JBrowse link
G Pcdh20 protocadherin 20 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:71,772,777...71,779,033
Ensembl chr15:71,772,777...71,779,033
JBrowse link
G Pcdh8 protocadherin 8 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:62,196,469...62,201,498
Ensembl chr15:62,197,060...62,200,837
JBrowse link
G Pcdh9 protocadherin 9 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:76,787,108...77,738,668
Ensembl chr15:77,733,402...77,736,892
JBrowse link
G Phf11 PHD finger protein 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:38,692,817...39,683,417
Ensembl chr15:38,647,779...38,709,984
JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:83,494,110...83,663,202
Ensembl chr15:83,495,377...83,663,143
JBrowse link
G Pou4f1 POU class 4 homeobox 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:88,618,255...88,622,712
Ensembl chr15:88,620,470...88,622,413
JBrowse link
G Prr20e proline rich 20E ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 4:121,040,810...121,053,910
Ensembl chr 4:121,046,277...121,052,552
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
JBrowse link
G Rbm26 RNA binding motif protein 26 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:89,262,683...89,339,323
Ensembl chr15:89,266,710...89,339,323
JBrowse link
G Rcbtb1 RCC1 and BTB domain containing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:39,622,572...39,665,335
Ensembl chr15:39,638,510...39,669,473
JBrowse link
G Rcbtb2 RCC1 and BTB domain containing protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,029,388...55,074,728
Ensembl chr15:55,034,033...55,073,437
JBrowse link
G Rnaseh2b ribonuclease H2, subunit B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:45,422,010...45,472,792
Ensembl chr15:45,422,010...45,464,892
JBrowse link
G Scel sciellin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:87,689,190...87,820,731
Ensembl chr15:87,704,340...87,820,779
JBrowse link
G Serpine3 serpin family E member 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:45,827,983...45,855,952
Ensembl chr15:45,834,302...45,858,335
JBrowse link
G Setdb2 SET domain bifurcated histone lysine methyltransferase 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:38,699,135...39,745,035
Ensembl chr15:39,712,861...39,742,103
Ensembl chr15:39,712,861...39,742,103
JBrowse link
G Slain1 SLAIN motif family, member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:87,862,832...87,906,472
Ensembl chr15:87,886,783...87,906,474
JBrowse link
G Slitrk1 SLIT and NTRK-like family, member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:93,303,382...93,307,420
Ensembl chr15:93,303,382...93,307,420
JBrowse link
G Slitrk6 SLIT and NTRK-like family, member 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:95,507,632...95,514,259
Ensembl chr15:95,507,640...95,514,259
JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:90,172,769...90,177,823
Ensembl chr15:90,172,975...90,175,802
JBrowse link
G Spryd7 SPRY domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:41,871,144...41,890,879
Ensembl chr15:41,870,762...41,890,716
JBrowse link
G Sucla2 succinate-CoA ligase ADP-forming subunit beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,461,695...55,516,954
Ensembl chr15:55,461,695...55,516,952
JBrowse link
G Sugt1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:61,873,158...61,913,983
Ensembl chr15:61,873,056...61,914,072
JBrowse link
G Tbc1d4 TBC1 domain family, member 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:85,927,978...86,105,829
Ensembl chr15:85,930,044...86,105,273
JBrowse link
G Tdrd3 tudor domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:70,732,164...70,864,855
Ensembl chr15:70,790,125...70,859,185
JBrowse link
G Thsd1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:74,680,621...74,712,368
Ensembl chr16:74,680,621...74,710,704
JBrowse link
G Trim13 tripartite motif-containing 13 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:41,897,191...41,936,545
Ensembl chr15:41,927,241...41,935,718
JBrowse link
G Uchl3 ubiquitin C-terminal hydrolase L3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:86,153,624...86,198,127
Ensembl chr15:86,153,628...86,198,127
JBrowse link
G Vps36 vacuolar protein sorting 36 homolog ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:74,719,642...74,743,921
Ensembl chr16:74,719,553...74,743,927
JBrowse link
G Wdfy2 WD repeat and FYVE domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:46,008,613...46,134,319
Ensembl chr15:46,008,613...46,134,064
JBrowse link
chromosome 17q11.2 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf135 ring finger protein 135 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome
CTD
ClinVar
PMID:17632510, PMID:21681106, PMID:27535533, PMID:28135719, PMID:30665703, PMID:30763456 NCBI chr10:67,531,989...67,551,237 JBrowse link
chromosome 1q21.1 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp6 acid phosphatase 6, lysophosphatidic ISO ClinVar Annotator: match by term: 1q21.1 Deletion ClinVar NCBI chr 2:199,284,177...199,305,793
Ensembl chr 2:199,283,909...199,305,799
JBrowse link
G Bcl9 BCL9, transcription coactivator ISO ClinVar Annotator: match by term: 1q21.1 Deletion ClinVar NCBI chr 2:199,334,644...199,420,083
Ensembl chr 2:199,334,664...199,354,793
JBrowse link
G Chd1l chromodomain helicase DNA binding protein 1-like ISO ClinVar Annotator: match by term: 1q21.1 Deletion ClinVar NCBI chr 2:199,714,044...199,792,270
Ensembl chr 2:199,716,713...199,771,896
JBrowse link
G Fmo5 flavin containing dimethylaniline monoxygenase 5 ISO ClinVar Annotator: match by term: 1q21.1 Deletion ClinVar NCBI chr 2:199,796,870...199,823,927
Ensembl chr 2:199,796,881...199,823,927
JBrowse link
G Gja5 gap junction protein, alpha 5 ISO ClinVar Annotator: match by term: 1q21.1 Deletion
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868, PMID:28492532 NCBI chr 2:199,162,745...199,184,942
Ensembl chr 2:199,162,745...199,184,939
JBrowse link
G Gja8 gap junction protein, alpha 8 ISO ClinVar Annotator: match by term: 1q21.1 Deletion
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr 2:199,050,854...199,052,470
Ensembl chr 2:199,050,854...199,052,470
JBrowse link
G Gpr89b G protein-coupled receptor 89B ISO ClinVar Annotator: match by term: 1q21.1 Deletion ClinVar NCBI chr 2:198,999,945...199,038,702
Ensembl chr 2:198,999,946...199,038,702
JBrowse link
G Prkab2 protein kinase AMP-activated non-catalytic subunit beta 2 ISO ClinVar Annotator: match by term: 1q21.1 Deletion ClinVar NCBI chr 2:199,831,990...199,847,623
Ensembl chr 2:199,831,990...199,847,629
JBrowse link
chromosome 22q11.2 deletion syndrome, distal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc116 coiled-coil domain containing 116 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr11:88,092,794...88,100,220
Ensembl chr11:88,095,170...88,098,252
JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
JBrowse link
G Mir130b microRNA 130b ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr11:88,129,773...88,129,854
Ensembl chr11:88,129,773...88,129,854
JBrowse link
G Ppil2 peptidylprolyl isomerase like 2 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr11:88,147,342...88,169,968
Ensembl chr11:88,147,377...88,169,968
JBrowse link
G Ppm1f protein phosphatase, Mg2+/Mn2+ dependent, 1F ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr11:88,313,709...88,343,726
Ensembl chr11:88,313,709...88,343,627
JBrowse link
G Prame PRAME nuclear receptor transcriptional regulator ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr  X:106,082,984...106,091,256
Ensembl chr  X:106,083,203...106,085,878
JBrowse link
G Rimbp3 RIMS binding protein 3 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr11:88,033,213...88,039,002
Ensembl chr11:88,033,180...88,038,518
JBrowse link
G Sdf2l1 stromal cell-derived factor 2-like 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr11:88,122,271...88,124,513
Ensembl chr11:88,122,271...88,124,513
JBrowse link
G Tmem191c transmembrane protein 191C ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr11:87,975,508...87,982,861
Ensembl chr11:87,975,527...87,977,368
JBrowse link
G Top3b DNA topoisomerase III beta ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr11:88,346,305...88,374,896
Ensembl chr11:88,346,313...88,374,679
JBrowse link
G Ube2l3 ubiquitin-conjugating enzyme E2L 3 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr11:88,047,186...88,088,477
Ensembl chr11:88,047,832...88,088,476
JBrowse link
G Vpreb1 V-set pre-B cell surrogate light chain 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr11:88,376,256...88,377,133
Ensembl chr11:88,376,256...88,377,133
JBrowse link
G Ydjc YdjC chitooligosaccharide deacetylase homolog ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr11:88,089,142...88,094,254
Ensembl chr11:88,090,921...88,093,516
JBrowse link
G Ypel1 yippee-like 1 ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr11:88,171,401...88,186,000
Ensembl chr11:88,173,890...88,180,542
JBrowse link
G Zfp280b zinc finger protein 280B ISO ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal ClinVar PMID:21681106, PMID:31690835 NCBI chr20:13,566,381...13,581,215
Ensembl chr20:13,567,803...13,581,164
JBrowse link
CK syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by OMIM:300831 OMIM
ClinVar
PMID:19377476, PMID:21129721 NCBI chr  X:152,933,118...152,964,399
Ensembl chr  X:152,933,069...152,964,390
JBrowse link
cleft lip term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20436469 NCBI chr 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287
JBrowse link
G Arhgap29 Rho GTPase activating protein 29 ISO ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate ClinVar PMID:25741868 NCBI chr 2:225,552,075...225,613,349
Ensembl chr 2:225,552,148...225,613,359
JBrowse link
G Bhmt2 betaine-homocysteine S-methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 2:23,272,320...23,289,266
Ensembl chr 2:23,272,328...23,289,266
JBrowse link
G Bmp4 bone morphogenetic protein 4 susceptibility ISO ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
DNA:SNP: : rs17563 (p.V152A)(human)
DNA:polymorphism:cds:p.V152A(human)
ClinVar PMID:12404109, PMID:18771417, PMID:19249007, PMID:19557432, PMID:23227324, PMID:25741868, PMID:23227324, PMID:18771417 RGD:13442497, RGD:13442495 NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
G Cdh1 cadherin 1 susceptibility ISO DNA:splice-site mutation: :531+2T>A (human)
ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate
ClinVar PMID:25741868, PMID:28492532, PMID:29805042, PMID:15831593 RGD:1599548 NCBI chr19:38,768,467...38,838,395
Ensembl chr19:38,768,467...38,838,395
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Harelip ClinVar PMID:30311386 NCBI chr 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Harelip ClinVar PMID:25741868, PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Ctnnd1 catenin delta 1 ISO ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate ClinVar PMID:29805042 NCBI chr 3:72,001,904...72,053,047
Ensembl chr 3:72,002,152...72,053,049
JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 ISO ClinVar Annotator: match by term: Harelip ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 6:145,784,893...146,099,212
Ensembl chr 6:145,785,275...146,099,053
JBrowse link
G Esrp2 epithelial splicing regulatory protein 2 ISO ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate ClinVar PMID:29805042 NCBI chr19:38,113,412...38,120,578
Ensembl chr19:38,113,412...38,120,578
JBrowse link
G Fgf1 fibroblast growth factor 1 ISO DNA:SNP: :rs34010 (human) RGD PMID:24613087 RGD:11567264 NCBI chr18:32,273,830...32,359,831
Ensembl chr18:32,273,770...32,359,824
JBrowse link
G Fgf10 fibroblast growth factor 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 2:51,673,480...51,747,533
Ensembl chr 2:51,672,722...51,750,369
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Fgf3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 1:218,003,018...218,006,942
Ensembl chr 1:218,003,018...218,006,942
JBrowse link
G Fgf7 fibroblast growth factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 3:118,315,859...118,368,464
Ensembl chr 3:118,317,761...118,366,872
JBrowse link
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 1:265,492,949...265,498,965
Ensembl chr 1:265,493,124...265,498,831
JBrowse link
G Fgf9 fibroblast growth factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr15:38,341,657...38,386,945
Ensembl chr15:38,341,089...38,387,316
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs13317 (human)
CTD PMID:17963255, PMID:24613087 RGD:11567264 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
JBrowse link
G Gdf6 growth differentiation factor 6 ISO RGD PMID:18716610 RGD:12798509 NCBI chr 5:23,056,345...23,072,666
Ensembl chr 5:23,056,347...23,074,599
JBrowse link
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Harelip ClinVar PMID:25741868, PMID:30311386 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
G Irf6 interferon regulatory factor 6 ISO van der Woude syndrome, OMIM:119300
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:17041601, PMID:18836445, PMID:20436469, PMID:12219090 RGD:1600214 NCBI chr13:111,870,121...111,889,328
Ensembl chr13:111,870,121...111,889,328
JBrowse link
G Kif7 kinesin family member 7 ISO DNA:SNPs:introns:rs4932238,rs4932240(human) RGD PMID:26602496 RGD:11553833 NCBI chr 1:141,434,183...141,452,592
Ensembl chr 1:141,434,625...141,451,075
JBrowse link
G Mafb MAF bZIP transcription factor B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20436469 NCBI chr 3:156,338,993...156,340,913
Ensembl chr 3:156,339,004...156,340,913
JBrowse link
G Msx1 msh homeobox 1 ISO DNA:mutations, SNPs:multiple (human) RGD PMID:12807959 RGD:5132609 NCBI chr14:77,712,262...77,716,061
Ensembl chr14:77,712,240...77,716,059
JBrowse link
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility
no_association
ISO DNA:SNP:cds:1958G>A(human) RGD PMID:25129243, PMID:18261183 RGD:12910961, RGD:12910962 NCBI chr 6:99,282,850...99,350,367
Ensembl chr 6:99,282,850...99,350,340
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :c.677C>T(human)
CTD PMID:16470725, PMID:27387868 RGD:11565179 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Mthfs methenyltetrahydrofolate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 8:96,564,877...96,614,386
Ensembl chr 8:96,564,877...96,614,348
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859337 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
G Nectin1 nectin cell adhesion molecule 1 ISO cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 RGD PMID:10932188 RGD:1599795 NCBI chr 8:48,094,233...48,198,499
Ensembl chr 8:48,094,673...48,157,305
JBrowse link
G Nog noggin susceptibility ISO DNA:SNP: :rs227731(human)
DNA:SNP: : rs227727 (human)
RGD PMID:25339627, PMID:25704602 RGD:12801482, RGD:11251786 NCBI chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386
JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Ntn1 netrin 1 ISO ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate ClinVar NCBI chr10:54,761,925...54,982,072
Ensembl chr10:54,761,871...54,967,585
JBrowse link
G Plekha5 pleckstrin homology domain containing A5 ISO ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate ClinVar PMID:29805042 NCBI chr 4:174,605,462...174,774,692
Ensembl chr 4:174,605,476...174,774,693
JBrowse link
G Plekha7 pleckstrin homology domain containing A7 ISO ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate ClinVar PMID:29805042 NCBI chr 1:185,427,600...185,493,985
Ensembl chr 1:185,356,975...185,538,694
JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO associated with Walker-Warburg Syndrome;DNA:insertion, deletion:exon RGD PMID:18640039 RGD:11532685 NCBI chr 3:11,253,424...11,271,873
Ensembl chr 3:11,254,026...11,271,872
JBrowse link
G Ptch1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16405370 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
JBrowse link
G Sdc2 syndecan 2 ISO RGD PMID:18716610 RGD:12798509 NCBI chr 7:71,572,731...71,686,139
Ensembl chr 7:71,572,941...71,686,044
JBrowse link
G Slc19a1 solute carrier family 19 member 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP: :80G>A(human)
CTD PMID:21254359, PMID:18797703 RGD:11565176 NCBI chr20:12,334,675...12,354,517
Ensembl chr20:12,334,676...12,352,377
JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17576140 NCBI chr15:90,172,769...90,177,823
Ensembl chr15:90,172,975...90,175,802
JBrowse link
G Sumo1 small ubiquitin-like modifier 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
CTD
ClinVar
PMID:16990542 NCBI chr 9:66,453,428...66,483,614
Ensembl chr 9:66,453,438...66,483,614
JBrowse link
G Tcn2 transcobalamin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16470748 NCBI chr14:84,173,992...84,189,299
Ensembl chr14:84,174,138...84,189,266
JBrowse link
G Tmco1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Harelip ClinVar PMID:25741868 NCBI chr13:85,465,015...85,559,113
Ensembl chr13:85,465,792...85,559,087
JBrowse link
G Tp63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
CTD
ClinVar
PMID:16688749 NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
JBrowse link
G Tyms thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 9:121,918,875...121,931,564
Ensembl chr 9:121,918,947...121,931,564
JBrowse link
cleft lip-palate-ectodermal dysplasia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:225060
OMIM
ClinVar
CTD
PMID:3035184, PMID:10932188, PMID:11559849, PMID:11756979, PMID:12893758, PMID:16195396, PMID:16674562, PMID:17089422, PMID:18223281, PMID:19132250, PMID:19715471, PMID:23560673, PMID:24560896, PMID:28492532 NCBI chr 8:48,094,233...48,198,499
Ensembl chr 8:48,094,673...48,157,305
JBrowse link
cleft palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bhmt2 betaine-homocysteine S-methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 2:23,272,320...23,289,266
Ensembl chr 2:23,272,328...23,289,266
JBrowse link
G Bnc2 basonuclin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19706529 NCBI chr 5:102,407,508...102,807,389
Ensembl chr 5:102,415,847...102,786,331
JBrowse link
G Cask calcium/calmodulin dependent serine protein kinase ISO CTD Direct Evidence: marker/mechanism
DNA:insertion
CTD PMID:9787075, PMID:9787075 RGD:11576291 NCBI chr  X:9,815,652...10,156,155
Ensembl chr  X:9,815,652...10,156,155
JBrowse link
G Cbfb core-binding factor subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17022082 NCBI chr19:37,127,508...37,171,075
Ensembl chr19:37,127,508...37,171,069
JBrowse link
G Chuk component of inhibitor of nuclear factor kappa B kinase complex ISO CTD Direct Evidence: marker/mechanism CTD PMID:10346820 NCBI chr 1:263,848,829...263,884,354
Ensembl chr 1:263,848,884...263,885,169
JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO DNA:SNPs, haplotypes: :multiple
DNA:SNPs, haplotypes: :rs3129208 (human)
RGD PMID:20672350, PMID:22112025 RGD:12436724, RGD:12904711 NCBI chr20:3,829,324...3,859,022
Ensembl chr20:3,830,164...3,859,018
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:25741868, PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col2a1 collagen type II alpha 1 chain susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP,haplotype:intron:rs1793949(human)
CTD PMID:15562585, PMID:20672350 RGD:12436724 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
JBrowse link
G Dlg1 discs large MAGUK scaffold protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11238884 NCBI chr11:72,164,566...72,378,895
Ensembl chr11:72,163,749...72,378,895
JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 6:145,784,893...146,099,212
Ensembl chr 6:145,785,275...146,099,053
JBrowse link
G Egf epidermal growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11399798 NCBI chr 2:68,820,616...68,895,537 JBrowse link
G Fgf10 fibroblast growth factor 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 2:51,673,480...51,747,533
Ensembl chr 2:51,672,722...51,750,369
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Fgf3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 1:218,003,018...218,006,942
Ensembl chr 1:218,003,018...218,006,942
JBrowse link
G Fgf7 fibroblast growth factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 3:118,315,859...118,368,464
Ensembl chr 3:118,317,761...118,366,872
JBrowse link
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 1:265,492,949...265,498,965
Ensembl chr 1:265,493,124...265,498,831
JBrowse link
G Fgf9 fibroblast growth factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr15:38,341,657...38,386,945
Ensembl chr15:38,341,089...38,387,316
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255, PMID:29526646 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:28492532, PMID:30311386 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
JBrowse link
G Flnb filamin B susceptibility ISO DNA:SNPs:: RGD PMID:20634891 RGD:12791026 NCBI chr15:18,750,152...18,883,019
Ensembl chr15:18,750,118...18,883,005
JBrowse link
G Fzd4 frizzled class receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17103440 NCBI chr 1:153,589,471...153,598,376
Ensembl chr 1:153,589,471...153,598,375
JBrowse link
G Gata6 GATA binding protein 6 ISO protein:decreased expression:secondary palatal shelf (mouse) RGD PMID:27391658 RGD:13208933 NCBI chr18:2,415,821...2,447,087
Ensembl chr18:2,416,552...2,446,338
JBrowse link
G Gdf6 growth differentiation factor 6 ISO RGD PMID:18716610 RGD:12798509 NCBI chr 5:23,056,345...23,072,666
Ensembl chr 5:23,056,347...23,074,599
JBrowse link
G Gli3 GLI family zinc finger 3 ISO RGD PMID:18816854 RGD:12738224 NCBI chr17:52,294,942...52,569,036
Ensembl chr17:52,294,942...52,569,036
JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:9596582, PMID:10819326, PMID:24033266, PMID:25485910, PMID:25741868, PMID:25741901, PMID:27108799, PMID:27513193, PMID:27668284, PMID:28087732, PMID:30194818, PMID:32963807 NCBI chr 5:172,914,025...172,981,403
Ensembl chr 5:172,934,990...172,979,986
JBrowse link
G Golgb1 golgin B1 ISS MouseDO NCBI chr11:66,761,646...66,819,115
Ensembl chr11:66,761,584...66,819,079
JBrowse link
G Grhl3 grainyhead-like transcription factor 3 ISO ClinVar Annotator: match by term: nonsyndromic cleft palate ClinVar PMID:27018475 NCBI chr 5:153,893,039...153,925,045
Ensembl chr 5:153,893,039...153,924,896
JBrowse link
G Inpp1 inositol polyphosphate-1-phosphatase ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar NCBI chr 9:53,544,602...53,574,303
Ensembl chr 9:53,546,018...53,574,690
JBrowse link
G Irf6 interferon regulatory factor 6 ISO van der Woude syndrome, OMIM:119300
DNA:SNPs, haplotype: :rs9430018, rs17389541 (human)
ClinVar Annotator: match by term: Cleft palate
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12920575, PMID:17041601, PMID:25741868, PMID:12219090, PMID:20672350 RGD:1600214, RGD:12436724 NCBI chr13:111,870,121...111,889,328
Ensembl chr13:111,870,121...111,889,328
JBrowse link
G Kif7 kinesin family member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21552264 NCBI chr 1:141,434,183...141,452,592
Ensembl chr 1:141,434,625...141,451,075
JBrowse link
G Mnt MAX network transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15028671 NCBI chr10:61,683,776...61,700,504
Ensembl chr10:61,685,241...61,700,491
JBrowse link
G Msx1 msh homeobox 1 ISO DNA:mutations, SNPs:multiple (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:12163415, PMID:12701100, PMID:15301380, PMID:12807959 RGD:5132609 NCBI chr14:77,712,262...77,716,061
Ensembl chr14:77,712,240...77,716,059
JBrowse link
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility ISO DNA:SNP:cds:1958 G>A (rs2236225)(human) RGD PMID:18661527 RGD:12914151 NCBI chr 6:99,282,850...99,350,367
Ensembl chr 6:99,282,850...99,350,340
JBrowse link
G Mthfs methenyltetrahydrofolate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 8:96,564,877...96,614,386
Ensembl chr 8:96,564,877...96,614,348
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859337 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
G Nectin1 nectin cell adhesion molecule 1 ISO cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 RGD PMID:10932188 RGD:1599795 NCBI chr 8:48,094,233...48,198,499
Ensembl chr 8:48,094,673...48,157,305
JBrowse link
G Nedd4l NEDD4 like E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chr18:60,392,376...60,719,720
Ensembl chr18:60,392,376...60,719,720
JBrowse link
G Nek9 NIMA-related kinase 9 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar NCBI chr 6:109,121,524...109,162,433
Ensembl chr 6:109,124,330...109,162,267
JBrowse link
G Nfia nuclear factor I/A ISO ClinVar Annotator: match by term: Cleft palate ClinVar NCBI chr 5:116,421,895...116,750,381
Ensembl chr 5:116,420,690...116,751,416
JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Pax9 paired box 9 ISO RGD PMID:17097601 RGD:12801424 NCBI chr 6:77,607,705...77,624,453
Ensembl chr 6:77,608,624...77,621,719
JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18264099 NCBI chr14:35,527,926...35,581,130
Ensembl chr14:35,527,927...35,581,031
JBrowse link
G Pitx2 paired-like homeodomain 2 ISO RGD PMID:12975342 RGD:12910559 NCBI chr 2:233,602,732...233,621,059
Ensembl chr 2:233,602,732...233,621,129
JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:11709191, PMID:12588800, PMID:15466003, PMID:16427280, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:19299310, PMID:22323514, PMID:23326386, PMID:25741868, PMID:26013959, PMID:28492532, PMID:30311386 NCBI chr 5:135,007,343...135,017,220
Ensembl chr 5:135,007,343...135,017,218
JBrowse link
G Ptch1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16405370 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
JBrowse link
G Rarg retinoic acid receptor, gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21807577 NCBI chr 7:143,840,739...143,863,206
Ensembl chr 7:143,839,980...143,863,186
JBrowse link
G Ror2 receptor tyrosine kinase-like orphan receptor 2 susceptibility ISO DNA:SNPs: :rs7858435, rs10820914, and rs3905385(human) RGD PMID:22490406 RGD:11535950 NCBI chr17:11,953,552...12,134,386
Ensembl chr17:11,953,552...12,134,386
JBrowse link
G Ryk receptor-like tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10932185 NCBI chr 8:111,326,339...111,398,640
Ensembl chr 8:111,326,433...111,397,867
JBrowse link
G Satb2 SATB homeobox 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft palate
CTD
ClinVar
PMID:16960803, PMID:17377962, PMID:19170718, PMID:23925499, PMID:24301056, PMID:25741868, PMID:28492532, PMID:29023086, PMID:30311386 NCBI chr 9:63,456,877...63,642,193
Ensembl chr 9:63,456,783...63,641,400
JBrowse link
G Sdc2 syndecan 2 ISO RGD PMID:18716610 RGD:12798509 NCBI chr 7:71,572,731...71,686,139
Ensembl chr 7:71,572,941...71,686,044
JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:17097601 RGD:12801424 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link
G Shox2 short stature homeobox 2 ISO RGD PMID:16141225 RGD:12859081 NCBI chr 2:164,118,175...164,126,783
Ensembl chr 2:164,118,191...164,126,783
JBrowse link
G Sim2 SIM bHLH transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12203729 NCBI chr11:34,315,739...34,355,183
Ensembl chr11:34,316,295...34,354,027
JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr20:12,334,675...12,354,517
Ensembl chr20:12,334,676...12,352,377
JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:25741868 NCBI chr 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468
JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17576140 NCBI chr15:90,172,769...90,177,823
Ensembl chr15:90,172,975...90,175,802
JBrowse link
G Sumo1 small ubiquitin-like modifier 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16990542 NCBI chr 9:66,453,428...66,483,614
Ensembl chr 9:66,453,438...66,483,614
JBrowse link
G Tbx22 T-box transcription factor 22 ISO cleft palate with ankyloglossia, OMIM:303400
ClinVar Annotator: match by term: Cleft palate
ClinVar PMID:25741868, PMID:12374769 RGD:724722 NCBI chr  X:78,731,738...78,782,542
Ensembl chr  X:78,769,419...78,782,542
JBrowse link
G Tenm4 teneurin transmembrane protein 4 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar NCBI chr 1:161,183,858...161,885,094
Ensembl chr 1:161,401,527...161,880,923
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25450421 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25450421 NCBI chr13:105,039,639...105,142,010
Ensembl chr13:105,039,853...105,141,030
JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7493022, PMID:26971374, PMID:17097601 RGD:12801424 NCBI chr 6:109,913,757...109,936,217
Ensembl chr 6:109,913,757...109,935,533
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:30311386 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
JBrowse link
G Tmco1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:25741868 NCBI chr13:85,465,015...85,559,113
Ensembl chr13:85,465,792...85,559,087
JBrowse link
G Tp63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11462173 NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:11709191, PMID:12588800, PMID:15466003, PMID:16427280, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:19299310, PMID:22323514, PMID:23326386, PMID:25741868, PMID:26013959, PMID:28492532, PMID:30311386 NCBI chr 5:135,019,206...135,032,412
Ensembl chr 5:135,019,778...135,025,084
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:25741868, PMID:30311386 NCBI chr 3:63,565,160...63,837,815 JBrowse link
G Tyms thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 9:121,918,875...121,931,564
Ensembl chr 9:121,918,947...121,931,564
JBrowse link
Cleft Palate with Ankyloglossia 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 null ClinVar PMID:2563678, PMID:11559848, PMID:12374769, PMID:14729838, PMID:22784330 NCBI chr  X:78,731,738...78,782,542
Ensembl chr  X:78,769,419...78,782,542
JBrowse link
cleft palate, cardiac defects, and intellectual disabillity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Meis2 Meis homeobox 2 ISO ClinVar Annotator: match by term: Cleft palate, cardiac defects, and mental retardation ClinVar
OMIM
PMID:24678003, PMID:25741868, PMID:27225850, PMID:28492532 NCBI chr 3:107,560,172...107,762,732
Ensembl chr 3:107,559,997...107,760,589
JBrowse link
Cleft Palate, Proliferative Retinopathy, and Developmental Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrc32 leucine rich repeat containing 32 ISO ClinVar Annotator: match by term: CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY ClinVar
OMIM
PMID:30976112 NCBI chr 1:163,443,972...163,457,426
Ensembl chr 1:163,445,527...163,457,424
JBrowse link
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdm1a lysine demethylase 1A ISO ClinVar Annotator: match by term: Cleft palate, psychomotor retardation, and distinctive facial features
ClinVar Annotator: match by term: Neurodevelopmental and congenital anomalies
OMIM
ClinVar
PMID:23020937, PMID:24838796, PMID:25741868, PMID:26656649 NCBI chr 5:154,909,003...154,965,171
Ensembl chr 5:154,909,003...154,965,171
JBrowse link
cleft palate-lateral synechia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISS OMIM:119550 MouseDO NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
cleft soft palate 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: Cleft velum ClinVar PMID:16400610, PMID:18414213, PMID:21158681, PMID:22461308, PMID:23024289, PMID:24368733, PMID:28492532, PMID:28832562, PMID:30311386 NCBI chr 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696
JBrowse link
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 ISO ClinVar Annotator: match by term: Cleft soft palate ClinVar PMID:25741868 NCBI chr 8:99,977,334...100,059,736
Ensembl chr 8:99,977,334...100,059,736
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISS OMIM:119570 MouseDO NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
JBrowse link
cleidocranial dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cebpb CCAAT/enhancer binding protein beta ISS OMIM:119600 | OMIM:216330 MouseDO NCBI chr 3:164,424,502...164,425,933
Ensembl chr 3:164,424,515...164,425,910
JBrowse link
G Rnf146 ring finger protein 146 ISS OMIM:119600 | OMIM:216330 MouseDO NCBI chr 1:30,856,923...30,873,814
Ensembl chr 1:30,863,217...30,873,808
JBrowse link
G Runx2 RUNX family transcription factor 2 ISO DNA:insertion,DNA:point mutation:exon:W283X
ClinVar Annotator: match by term: Cleidocranial dysostosis
ClinVar Annotator: match by OMIM:119600
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9182765, PMID:9207800, PMID:10521292, PMID:10545612, PMID:12081718, PMID:12424590, PMID:14688224, PMID:15952089, PMID:17022082, PMID:20357738, PMID:20648631, PMID:25741868, PMID:26380986, PMID:27993330, PMID:28492532, PMID:9182765 RGD:1601649 NCBI chr 9:18,564,743...18,773,092
Ensembl chr 9:18,564,927...18,773,092
JBrowse link
G Supt3h SPT3 homolog, SAGA and STAGA complex component ISO ClinVar Annotator: match by term: Cleidocranial dysostosis ClinVar NCBI chr 9:18,249,565...18,604,814
Ensembl chr 9:18,319,246...18,371,856
JBrowse link
Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Runx2 RUNX family transcription factor 2 ISO ClinVar Annotator: match by term: Cleidocranial dysplasia, forme fruste, dental anomalies only ClinVar PMID:10545612 NCBI chr 9:18,564,743...18,773,092
Ensembl chr 9:18,564,927...18,773,092
JBrowse link
Cleidocranial Dysplasia, Forme Fruste, with Brachydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Runx2 RUNX family transcription factor 2 ISO ClinVar Annotator: match by null ClinVar PMID:9182765 NCBI chr 9:18,564,743...18,773,092
Ensembl chr 9:18,564,927...18,773,092
JBrowse link
CODAS syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lonp1 lon peptidase 1, mitochondrial ISO ClinVar Annotator: match by term: CODAS syndrome ClinVar
OMIM
PMID:1887855, PMID:25574826, PMID:25741868, PMID:25741869 NCBI chr 9:10,428,853...10,441,180
Ensembl chr 9:10,428,853...10,441,177
JBrowse link
Coffin-Siris syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1a AT-rich interaction domain 1A ISO
ISS
ClinVar Annotator: match by term: Coffin-Siris syndrome
OMIM:135900
ClinVar
MouseDO
PMID:25741868 NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability
ClinVar Annotator: match by term: Coffin-Siris syndrome
DNA:frameshift,nonsense mutations, haploinsufficiency:cds:
ClinVar PMID:18414213, PMID:24033266, PMID:25741868, PMID:24674232 RGD:11526783 NCBI chr 1:45,923,119...46,232,301
Ensembl chr 1:45,923,222...46,234,874
JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability ClinVar PMID:18414213 NCBI chr 1:244,615,811...244,783,736
Ensembl chr 1:244,615,821...244,782,706
JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:18414213, PMID:24728327, PMID:25741868, PMID:26353884, PMID:27701467, PMID:28492532 NCBI chr 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468
JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar NCBI chr20:13,679,955...13,702,821
Ensembl chr20:13,680,716...13,704,931
JBrowse link
Coffin-Siris syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:22426308, PMID:25741868 NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12
ClinVar Annotator: match by term: Coffin-Siris syndrome 1
ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features
ClinVar
OMIM
PMID:6499251, PMID:11170086, PMID:15057123, PMID:16691594, PMID:18414213, PMID:20086098, PMID:21801163, PMID:22405089, PMID:22426308, PMID:22426309, PMID:23906836, PMID:23929686, PMID:24267886, PMID:24569609, PMID:24674232, PMID:25169814, PMID:25326635, PMID:25363768, PMID:25674384, PMID:25741868, PMID:25741869, PMID:26350204, PMID:26376624, PMID:26395437, PMID:27389779, PMID:27570168, PMID:28323383, PMID:28492532, PMID:28708303, PMID:28867767, PMID:31132234 NCBI chr 1:45,923,119...46,232,301
Ensembl chr 1:45,923,222...46,234,874
JBrowse link
G Dpf2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868, PMID:29429572 NCBI chr 1:221,253,764...221,269,043
Ensembl chr 1:221,253,747...221,269,042