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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital heart disease
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Accession:DOID:1682 term browser browse the term
Definition:Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life.
Synonyms:exact_synonym: Heart Abnormalities;   Heart Abnormality;   Heart, Malformation Of;   MALFORMATION OF THE HEART;   congenital anomaly of heart;   congenital heart defect;   congenital heart defects;   heart defect;   heart malformation
 narrow_synonym: ISOLATED NONSYNDROMIC CONGENITAL HEART DISEASE;   Malformation of the heart and great vessels
 primary_id: MESH:D006330
 xref: ICD10CM:Q24.9;   ICD9CM:746.9;   NCI:C34666
For additional species annotation, visit the Alliance of Genome Resources.


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congenital heart disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 JBrowse link 9 93,049,955 93,146,469 RGD:9068941
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase JBrowse link 1 270,761,641 270,906,708 RGD:9068941
G ADAM19 ADAM metallopeptidase domain 19 JBrowse link 16 65,715,445 65,814,761 RGD:9068941
G AFF4 AF4/FMR2 family member 4 JBrowse link 2 135,196,067 135,283,931 RGD:9068941
G AHR aryl hydrocarbon receptor JBrowse link 9 86,511,866 86,555,950 RGD:9068941
G CAV3 caveolin 3 JBrowse link 13 65,117,868 65,130,886 RGD:9068941
G CBFB core-binding factor subunit beta JBrowse link 6 27,684,320 27,750,856 RGD:9068941
G CERS1 ceramide synthase 1 JBrowse link 2 58,951,463 58,972,692 RGD:9068941
G CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 JBrowse link 1 25,155,652 25,158,517 RGD:9068941
G DNMT1 DNA methyltransferase 1 JBrowse link 2 68,981,564 69,040,364 RGD:9068941
G DNMT3A DNA methyltransferase 3 alpha JBrowse link 3 113,501,972 113,609,148 RGD:9068941
G DNMT3B DNA methyltransferase 3 beta JBrowse link 17 36,345,715 36,386,076 RGD:9068941
G ECE1 endothelin converting enzyme 1 JBrowse link 6 79,408,322 79,465,827 RGD:9068941
G EDN1 endothelin 1 JBrowse link 7 8,752,018 8,758,354 RGD:9068941
G EDNRA endothelin receptor type A JBrowse link 8 81,210,750 81,279,053 RGD:9068941
G EYA1 EYA transcriptional coactivator and phosphatase 1 JBrowse link 4 63,970,939 64,328,107 RGD:9068941
G FKBP1A FKBP prolyl isomerase 1A JBrowse link 17 33,910,047 33,935,212 RGD:9068941
G FOXP1 forkhead box P1 JBrowse link 13 52,346,844 52,974,358 RGD:9068941
G GATA4 GATA binding protein 4 JBrowse link 14 14,858,470 14,938,156 RGD:9068941
G GATA6 GATA binding protein 6 JBrowse link 6 107,282,709 107,314,725 RGD:9068941
G GDF1 growth differentiation factor 1 JBrowse link 2 58,972,918 58,976,294 RGD:9068941
G GNA11 G protein subunit alpha 11 JBrowse link 2 75,439,405 75,456,855 RGD:9068941
G GNAQ G protein subunit alpha q JBrowse link 1 230,607,469 230,906,988 RGD:9068941
G GP1BB glycoprotein Ib platelet subunit beta JBrowse link 14 51,261,097 51,261,903 RGD:9068941
G HAND2 heart and neural crest derivatives expressed 2 JBrowse link 14 16,460,089 16,462,979 RGD:9068941
G HIF1A hypoxia inducible factor 1 subunit alpha JBrowse link 1 190,625,436 190,673,926 RGD:9068941
G HOXA1 homeobox A1 JBrowse link 18 45,477,561 45,480,306 RGD:9068941
G HOXA3 homeobox A3 JBrowse link 18 45,421,542 45,467,803 RGD:9068941
G IRX5 iroquois homeobox 5 JBrowse link 6 30,511,263 30,515,015 RGD:9068941
G JAG1 jagged canonical Notch ligand 1 JBrowse link 17 19,591,248 19,629,659 RGD:9068941
G KLF4 Kruppel like factor 4 JBrowse link 1 248,604,817 248,609,574 RGD:9068941
G MAML3 mastermind like transcriptional coactivator 3 JBrowse link 8 86,879,353 87,323,123 RGD:9068941
G MKKS McKusick-Kaufman syndrome JBrowse link 17 19,341,024 19,363,007 RGD:9068941
G MOSPD3 motile sperm domain containing 3 JBrowse link 3 8,531,745 8,533,828 RGD:9068941
G MTHFR methylenetetrahydrofolate reductase JBrowse link 6 71,863,637 71,882,118 RGD:9068941
G MYH7 myosin heavy chain 7 JBrowse link 7 75,650,841 75,672,908 RGD:9068941
G NIPBL NIPBL cohesin loading factor JBrowse link 16 22,152,455 22,364,373 RGD:9068941
G NKX2-5 NK2 homeobox 5 JBrowse link 16 51,086,014 51,089,165 RGD:9068941
G NOTCH1 notch receptor 1 RGD:9068941
G NPHP4 nephrocystin 4 JBrowse link 6 66,815,282 66,928,245 RGD:9068941
G NPPB natriuretic peptide B JBrowse link 6 71,930,374 71,931,843 RGD:9068941
G PEBP1 phosphatidylethanolamine binding protein 1 JBrowse link 14 34,523,901 34,530,238 RGD:9068941
G PITX2 paired like homeodomain 2 JBrowse link 8 111,697,364 111,723,295 RGD:9068941
G POU5F1 POU class 5 homeobox 1 JBrowse link 7 23,564,654 23,570,691 RGD:9068941
G PTCH1 patched 1 JBrowse link 10 26,627,165 26,703,225 RGD:9068941
G RCAN1 regulator of calcineurin 1 JBrowse link 13 198,106,256 198,205,727 RGD:9068941
G SLC29A3 solute carrier family 29 member 3 JBrowse link 14 74,222,988 74,267,527 RGD:9068941
G SP4 Sp4 transcription factor JBrowse link 9 90,337,355 90,410,529 RGD:9068941
G STRA6 signaling receptor and transporter of retinol STRA6 JBrowse link 7 59,317,930 59,347,274 RGD:9068941
G TBX1 T-box transcription factor 1 JBrowse link 14 51,289,376 51,297,110 RGD:9068941
G TBX5 T-box transcription factor 5 JBrowse link 14 37,772,205 37,826,015 RGD:9068941
G TDGF1 teratocarcinoma-derived growth factor 1 JBrowse link 13 29,537,874 29,544,686 RGD:9068941
G TGFB2 transforming growth factor beta 2 JBrowse link 10 8,306,136 8,435,307 RGD:9068941
G UFD1 ubiquitin recognition factor in ER associated degradation 1 JBrowse link 14 51,113,858 51,132,820 RGD:9068941
G VEGFA vascular endothelial growth factor A JBrowse link 7 38,746,393 38,762,282 RGD:9068941
G ZEB2 zinc finger E-box binding homeobox 2 JBrowse link 15 7,498,879 7,631,347 RGD:9068941
22q11 Deletion Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGF8 fibroblast growth factor 8 JBrowse link 14 112,808,215 112,814,225 RGD:9068941
G SIX1 SIX homeobox 1 JBrowse link 1 189,620,430 189,624,652 RGD:9068941
3MC syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COLEC10 collectin subfamily member 10 JBrowse link 4 19,692,990 20,143,740 RGD:7240710
G COLEC11 collectin subfamily member 11 JBrowse link 3 131,226,941 131,254,555 RGD:9068941
G MASP1 mannan binding lectin serine peptidase 1 JBrowse link 13 124,938,469 125,028,440 RGD:9068941
Aarskog syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGD1 FYVE, RhoGEF and PH domain containing 1 JBrowse link X 47,191,838 47,231,656 RGD:9068941
G TSR2 TSR2 ribosome maturation factor JBrowse link X 47,186,610 47,192,465 RGD:9068941
Alagille syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G JAG1 jagged canonical Notch ligand 1 JBrowse link 17 19,591,248 19,629,659 RGD:7240710
G MKKS McKusick-Kaufman syndrome JBrowse link 17 19,341,024 19,363,007 RGD:9068941
G NOTCH2 notch receptor 2 JBrowse link 4 100,951,522 101,152,348 RGD:7240710
G SLX4IP SLX4 interacting protein JBrowse link 17 19,363,727 19,578,132 RGD:9068941
G SNAP25 synaptosome associated protein 25 JBrowse link 17 19,096,115 19,227,580 RGD:9068941
Andersen-Tawil syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 JBrowse link 12 10,351,959 10,380,631 RGD:7240710
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 JBrowse link 9 55,836,777 55,861,288 RGD:9068941
Aortic Coarctation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 JBrowse link 12 15,394,487 15,414,609 RGD:9068941
G AGT angiotensinogen JBrowse link 14 59,643,030 59,656,835 RGD:9068941
G GATA6 GATA binding protein 6 JBrowse link 6 107,282,709 107,314,725 RGD:9068941
G JAG1 jagged canonical Notch ligand 1 JBrowse link 17 19,591,248 19,629,659 RGD:9068941
G MTHFR methylenetetrahydrofolate reductase JBrowse link 6 71,863,637 71,882,118 RGD:9068941
G NF1 neurofibromin 1 JBrowse link 12 43,487,098 43,754,205 RGD:9068941
aortic valve disease 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL5A1 collagen type V alpha 1 chain JBrowse link 1 273,934,219 274,083,264 RGD:9068941
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 JBrowse link 1 31,724,290 31,796,594 RGD:9068941
G GATA5 GATA binding protein 5 JBrowse link 17 61,824,891 61,834,742 RGD:9068941
G IL6 interleukin 6 JBrowse link 9 91,506,421 91,510,830 RGD:9068941
G MGP matrix Gla protein JBrowse link 5 57,665,272 57,669,360 RGD:9068941
G NOTCH1 notch receptor 1 RGD:7240710
G SMAD6 SMAD family member 6 JBrowse link 1 164,652,602 164,735,084 RGD:9068941
G TBX20 T-box transcription factor 20 JBrowse link 18 38,635,603 38,681,690 RGD:9068941
Aortic Valve Disease 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ROBO4 roundabout guidance receptor 4 JBrowse link 9 52,083,757 52,097,784 RGD:7240710
arrhythmogenic right ventricular cardiomyopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCC9 ATP binding cassette subfamily C member 9 JBrowse link 5 51,536,531 51,673,583 RGD:9068941
G ACTN2 actinin alpha 2 JBrowse link 14 54,670,727 54,742,717 RGD:9068941
G AKAP9 A-kinase anchoring protein 9 JBrowse link 9 71,895,615 72,054,898 RGD:9068941
G ANK2 ankyrin 2 JBrowse link 8 109,306,793 109,661,970 RGD:9068941
G BAG3 BAG cochaperone 3 JBrowse link 14 129,510,240 129,533,998 RGD:9068941
G CACNA1C calcium voltage-gated channel subunit alpha1 C JBrowse link 5 69,016,954 69,448,428 RGD:9068941
G CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 JBrowse link 10 44,321,954 44,887,410 RGD:9068941
G CALR3 calreticulin 3 JBrowse link 2 61,105,307 61,136,060 RGD:9068941
G CDH2 cadherin 2 JBrowse link 6 112,396,713 112,629,073 RGD:9068941
G DES desmin JBrowse link 15 121,428,539 121,435,426 RGD:9068941
G DMD dystrophin JBrowse link X 27,028,223 29,650,728 RGD:9068941
G DSC2 desmocollin 2 JBrowse link 6 114,982,259 115,021,332 RGD:9068941
G DSG2 desmoglein 2 JBrowse link 6 115,400,223 115,453,763 RGD:9068941
G DSP desmoplakin JBrowse link 7 4,862,649 4,915,626 RGD:9068941
G FHL2 four and a half LIM domains 2 JBrowse link 3 49,389,900 49,448,459 RGD:9068941
G GJA1 gap junction protein alpha 1 JBrowse link 1 40,988,818 41,002,129 RGD:9068941
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 JBrowse link 7 60,010,396 60,052,258 RGD:9068941
G IFT43 intraflagellar transport 43 JBrowse link 7 99,155,889 99,254,436 RGD:9068941
G IL6R interleukin 6 receptor JBrowse link 4 95,322,426 95,381,393 RGD:9068941
G JUP junction plakoglobin JBrowse link 12 20,902,395 20,931,208 RGD:9068941
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 JBrowse link 13 198,051,281 198,059,444 RGD:9068941
G KCNH2 potassium voltage-gated channel subfamily H member 2 JBrowse link 18 6,242,826 6,279,154 RGD:9068941
G LAMA4 laminin subunit alpha 4 JBrowse link 1 78,071,990 78,224,564 RGD:9068941
G LDB3 LIM domain binding 3 JBrowse link 14 87,660,961 87,722,249 RGD:9068941
G LMNA lamin A/C JBrowse link 4 93,899,019 93,927,255 RGD:9068941
G MYH7 myosin heavy chain 7 JBrowse link 7 75,650,841 75,672,908 RGD:9068941
G MYL2 myosin light chain 2 JBrowse link 14 32,205,953 32,213,848 RGD:9068941
G MYOM1 myomesin 1 JBrowse link 6 103,451,206 103,593,093 RGD:9068941
G MYPN myopalladin JBrowse link 14 71,283,271 71,388,591 RGD:9068941
G PKP2 plakophilin 2 JBrowse link 5 41,424,687 41,509,590 RGD:9068941
G PTPN11 protein tyrosine phosphatase non-receptor type 11 JBrowse link 14 39,202,165 39,292,041 RGD:9068941
G RBM20 RNA binding motif protein 20 JBrowse link 14 121,058,896 121,269,824 RGD:9068941
G RYR2 ryanodine receptor 2 JBrowse link 14 53,652,140 54,406,691 RGD:9068941
G SCN5A sodium voltage-gated channel alpha subunit 5 JBrowse link 13 23,336,143 23,424,755 RGD:9068941
G SGCA sarcoglycan alpha JBrowse link 12 26,356,691 26,368,561 RGD:9068941
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 JBrowse link 3 101,209,568 101,366,057 RGD:9068941
G TGFB3 transforming growth factor beta 3 JBrowse link 7 99,133,873 99,162,239 RGD:9068941
G TMEM43 transmembrane protein 43 JBrowse link 13 70,397,069 70,417,213 RGD:9068941
G TMPO thymopoietin JBrowse link 5 85,317,648 85,346,528 RGD:9068941
G TRPM4 transient receptor potential cation channel subfamily M member 4 JBrowse link 6 54,342,774 54,377,557 RGD:9068941
G TTN titin JBrowse link 15 84,226,953 84,501,320 RGD:9068941
G XPC XPC complex subunit, DNA damage recognition and repair factor JBrowse link 13 70,348,841 70,397,194 RGD:9068941
arrhythmogenic right ventricular dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DSG2 desmoglein 2 JBrowse link 6 115,400,223 115,453,763 RGD:9068941
G PLEC plectin JBrowse link 4 696,355 753,859 RGD:9068941
G RYR2 ryanodine receptor 2 JBrowse link 14 53,652,140 54,406,691 RGD:9068941
G TGFB3 transforming growth factor beta 3 JBrowse link 7 99,133,873 99,162,239 RGD:7240710
arrhythmogenic right ventricular dysplasia 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DSG2 desmoglein 2 JBrowse link 6 115,400,223 115,453,763 RGD:7240710
G TTR transthyretin JBrowse link 6 115,496,338 115,503,974 RGD:9068941
arrhythmogenic right ventricular dysplasia 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DSC2 desmocollin 2 JBrowse link 6 114,982,259 115,021,332 RGD:7240710
arrhythmogenic right ventricular dysplasia 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G JUP junction plakoglobin JBrowse link 12 20,902,395 20,931,208 RGD:7240710
arrhythmogenic right ventricular dysplasia 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CTNNA3 catenin alpha 3 JBrowse link 14 69,195,231 70,974,543 RGD:7240710
G LRRTM3 leucine rich repeat transmembrane neuronal 3 JBrowse link 14 70,172,460 70,352,073 RGD:9068941
Arrhythmogenic Right Ventricular Dysplasia 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CDH2 cadherin 2 JBrowse link 6 112,396,713 112,629,073 RGD:7240710
arrhythmogenic right ventricular dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RYR2 ryanodine receptor 2 JBrowse link 14 53,652,140 54,406,691 RGD:7240710
arrhythmogenic right ventricular dysplasia 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TMEM43 transmembrane protein 43 JBrowse link 13 70,397,069 70,417,213 RGD:7240710
arrhythmogenic right ventricular dysplasia 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DSP desmoplakin JBrowse link 7 4,862,649 4,915,626 RGD:7240710
arrhythmogenic right ventricular dysplasia 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DES desmin JBrowse link 15 121,428,539 121,435,426 RGD:9068941
G DNM1L dynamin 1 like JBrowse link 5 41,571,054 41,636,058 RGD:9068941
G DSC2 desmocollin 2 JBrowse link 6 114,982,259 115,021,332 RGD:9068941
G DSP desmoplakin JBrowse link 7 4,862,649 4,915,626 RGD:9068941
G FGD4 FYVE, RhoGEF and PH domain containing 4 JBrowse link 5 41,683,265 41,879,197 RGD:9068941
G LMNA lamin A/C JBrowse link 4 93,899,019 93,927,255 RGD:9068941
G MYH7 myosin heavy chain 7 JBrowse link 7 75,650,841 75,672,908 RGD:9068941
G PKP2 plakophilin 2 JBrowse link 5 41,424,687 41,509,590 RGD:7240710
G PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 JBrowse link 18 5,475,077 5,744,761 RGD:9068941
G RYR2 ryanodine receptor 2 JBrowse link 14 53,652,140 54,406,691 RGD:9068941
G TTN titin JBrowse link 15 84,226,953 84,501,320 RGD:9068941
G YARS2 tyrosyl-tRNA synthetase 2 JBrowse link 5 41,561,563 41,584,534 RGD:9068941
atrial heart septal defect term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCC8 ATP binding cassette subfamily C member 8 JBrowse link 2 41,666,974 41,754,624 RGD:9068941
G ACTC1 actin alpha cardiac muscle 1 JBrowse link 1 136,281,119 136,286,551 RGD:9068941
G BMP4 bone morphogenetic protein 4 JBrowse link 1 183,415,989 183,422,888 RGD:9068941
G CHD7 chromodomain helicase DNA binding protein 7 JBrowse link 4 72,572,455 72,754,443 RGD:9068941
G COL5A2 collagen type V alpha 2 chain JBrowse link 15 93,611,856 93,981,131 RGD:9068941
G CREBBP CREB binding protein JBrowse link 3 38,388,366 38,530,243 RGD:9068941
G ERF ETS2 repressor factor JBrowse link 6 49,678,858 49,686,422 RGD:9068941
G GATA4 GATA binding protein 4 JBrowse link 14 14,858,470 14,938,156 RGD:9068941
G HDAC8 histone deacetylase 8 JBrowse link X 58,210,182 58,450,681 RGD:9068941
G MN1 MN1 proto-oncogene, transcriptional regulator JBrowse link 14 45,093,660 45,142,476 RGD:9068941
G MYH7 myosin heavy chain 7 JBrowse link 7 75,650,841 75,672,908 RGD:9068941
G MYLK myosin light chain kinase JBrowse link 13 136,509,878 136,809,674 RGD:9068941
G NKX2-5 NK2 homeobox 5 JBrowse link 16 51,086,014 51,089,165 RGD:9068941
G PQBP1 polyglutamine binding protein 1 JBrowse link X 42,976,086 42,981,732 RGD:9068941
G SETBP1 SET binding protein 1 JBrowse link 1 94,295,332 94,666,560 RGD:9068941
G TBX5 T-box transcription factor 5 JBrowse link 14 37,772,205 37,826,015 RGD:9068941
atrial heart septal defect 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TBX5 T-box transcription factor 5 JBrowse link 14 37,772,205 37,826,015 RGD:9068941
G TPM1 tropomyosin 1 JBrowse link 1 108,986,981 109,016,090 RGD:9068941
atrial heart septal defect 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GATA4 GATA binding protein 4 JBrowse link 14 14,858,470 14,938,156 RGD:7240710
atrial heart septal defect 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TBX20 T-box transcription factor 20 JBrowse link 18 38,635,603 38,681,690 RGD:7240710
atrial heart septal defect 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACTC1 actin alpha cardiac muscle 1 JBrowse link 1 136,281,119 136,286,551 RGD:7240710
atrial heart septal defect 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TLL1 tolloid like 1 JBrowse link 8 42,855,883 43,094,215 RGD:7240710
atrial heart septal defect 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NKX2-5 NK2 homeobox 5 JBrowse link 16 51,086,014 51,089,165 RGD:7240710
atrial heart septal defect 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 JBrowse link 1 25,155,652 25,158,517 RGD:7240710
atrial heart septal defect 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GATA6 GATA binding protein 6 JBrowse link 6 107,282,709 107,314,725 RGD:7240710
Atrial Septal Defect with Atrioventricular Conduction Defects term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NKX2-5 NK2 homeobox 5 JBrowse link 16 51,086,014 51,089,165 RGD:9068941
atrioventricular septal defect term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHD7 chromodomain helicase DNA binding protein 7 JBrowse link 4 72,572,455 72,754,443 RGD:9068941
G ELN elastin JBrowse link 3 11,214,194 11,245,891 RGD:9068941
G FOXP1 forkhead box P1 JBrowse link 13 52,346,844 52,974,358 RGD:9068941
G GATA4 GATA binding protein 4 JBrowse link 14 14,858,470 14,938,156 RGD:9068941
G GATA6 GATA binding protein 6 JBrowse link 6 107,282,709 107,314,725 RGD:9068941
G GJA1 gap junction protein alpha 1 JBrowse link 1 40,988,818 41,002,129 RGD:9068941
G NKX2-5 NK2 homeobox 5 JBrowse link 16 51,086,014 51,089,165 RGD:9068941
G NR1D2 nuclear receptor subfamily 1 group D member 2 JBrowse link 13 10,756,954 10,791,219 RGD:9068941
G SHH sonic hedgehog signaling molecule JBrowse link 18 2,546,202 2,555,484 RGD:9068941
G SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 JBrowse link 15 118,627,734 118,688,005 RGD:9068941
G TBX5 T-box transcription factor 5 JBrowse link 14 37,772,205 37,826,015 RGD:9068941
Atrioventricular Septal Defect 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ARPC4 actin related protein 2/3 complex subunit 4 JBrowse link 13 66,075,926 66,093,986 RGD:9068941
G BRPF1 bromodomain and PHD finger containing 1 JBrowse link 13 66,021,047 66,037,446 RGD:9068941
G CAMK1 calcium/calmodulin dependent protein kinase I JBrowse link 13 66,044,713 66,055,290 RGD:9068941
G CIDEC cell death inducing DFFA like effector c JBrowse link 13 66,141,836 66,149,801 RGD:9068941
G CPNE9 copine family member 9 JBrowse link 13 65,994,369 66,019,080 RGD:9068941
G CRELD1 cysteine rich with EGF like domains 1 JBrowse link 13 66,194,795 66,203,419 RGD:7240710
RGD:9068941
G IL17RC interleukin 17 receptor C JBrowse link 13 66,179,298 66,194,750 RGD:9068941
G IL17RE interleukin 17 receptor E JBrowse link 13 66,164,492 66,177,967 RGD:9068941
G JAGN1 jagunal homolog 1 JBrowse link 13 66,154,855 66,158,329 RGD:9068941
G MTMR14 myotubularin related protein 14 JBrowse link 13 65,948,520 65,994,231 RGD:9068941
G OGG1 8-oxoguanine DNA glycosylase JBrowse link 13 66,038,669 66,045,478 RGD:9068941
G RPUSD3 RNA pseudouridine synthase D3 JBrowse link 13 66,126,126 66,133,774 RGD:9068941
G TADA3 transcriptional adaptor 3 JBrowse link 13 66,067,623 66,080,170 RGD:9068941
G TTLL3 tubulin tyrosine ligase like 3 JBrowse link 13 66,094,069 66,123,984 RGD:9068941
Atrioventricular Septal Defect 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GJA1 gap junction protein alpha 1 JBrowse link 1 40,988,818 41,002,129 RGD:7240710
Atrioventricular Septal Defect 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GATA4 GATA binding protein 4 JBrowse link 14 14,858,470 14,938,156 RGD:7240710
Atrioventricular Septal Defect 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GATA6 GATA binding protein 6 JBrowse link 6 107,282,709 107,314,725 RGD:7240710
Au-Kline Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HNRNPK heterogeneous nuclear ribonucleoprotein K JBrowse link 10 30,975,639 30,987,955 RGD:7240710
Barth syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DNASE1L1 deoxyribonuclease 1 like 1 JBrowse link X 124,931,410 124,937,569 RGD:9068941
G TAZ tafazzin JBrowse link X 124,940,036 124,946,275 RGD:7240710
Beaulieu-Boycott-Innes Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G THOC6 THO complex 6 JBrowse link 3 39,161,442 39,164,631 RGD:7240710
blepharophimosis-intellectual disability syndrome, SBBYS type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DUSP29 dual specificity phosphatase 29 JBrowse link 14 77,602,871 77,643,109 RGD:9068941
G KAT6B lysine acetyltransferase 6B JBrowse link 14 77,390,790 77,597,674 RGD:7240710
Burn-McKeown syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADNP2 ADNP homeobox 2 JBrowse link 6 128,071,503 128,113,292 RGD:9068941
G ATP9B ATPase phospholipid transporting 9B (putative) JBrowse link 1 146,022,975 146,228,847 RGD:9068941
G CTDP1 CTD phosphatase subunit 1 JBrowse link 1 145,769,763 145,811,673 RGD:9068941
G GALR1 galanin receptor 1 JBrowse link 1 147,442,977 147,466,731 RGD:9068941
G HSBP1L1 heat shock factor binding protein 1 like 1 JBrowse link 6 127,960,330 127,972,241 RGD:9068941
G KCNG2 potassium voltage-gated channel modifier subfamily G member 2 JBrowse link 6 127,830,032 127,891,294 RGD:9068941
G MBP myelin basic protein JBrowse link 1 147,649,516 147,685,289 RGD:9068941
G NFATC1 nuclear factor of activated T cells 1 JBrowse link 1 145,940,099 146,002,897 RGD:9068941
G PARD6G par-6 family cell polarity regulator gamma JBrowse link 6 128,161,610 128,250,708 RGD:9068941
G RBFA ribosome binding factor A JBrowse link 6 128,030,397 128,048,061 RGD:9068941
G SALL3 spalt like transcription factor 3 JBrowse link 1 146,251,591 146,273,778 RGD:9068941
G SLC66A2 solute carrier family 66 member 2 JBrowse link 6 127,894,111 127,952,268 RGD:9068941
G TXNL4A thioredoxin like 4A JBrowse link 6 127,975,164 127,991,112 RGD:7240710
G ZNF236 zinc finger protein 236 JBrowse link 1 147,690,545 147,782,162 RGD:9068941
G ZNF516 zinc finger protein 516 JBrowse link 1 147,987,660 148,100,788 RGD:9068941
Cardiac-Urogenital Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYRF myelin regulatory factor JBrowse link 2 9,761,230 9,795,873 RGD:7240710
cardiofaciocutaneous syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BRAF B-Raf proto-oncogene, serine/threonine kinase JBrowse link 18 8,957,963 9,132,558 RGD:9068941
G HRAS HRas proto-oncogene, GTPase JBrowse link 2 299,662 302,539 RGD:9068941
G KRAS KRAS proto-oncogene, GTPase JBrowse link 5 48,508,774 48,546,260 RGD:9068941
G MAP2K1 mitogen-activated protein kinase kinase 1 JBrowse link 1 164,381,892 164,469,313 RGD:9068941
G MAP2K2 mitogen-activated protein kinase kinase 2 JBrowse link 2 74,626,739 74,651,352 RGD:9068941
G PTPN11 protein tyrosine phosphatase non-receptor type 11 JBrowse link 14 39,202,165 39,292,041 RGD:9068941
G SNAPC5 small nuclear RNA activating complex polypeptide 5 JBrowse link 1 164,459,111 164,475,053 RGD:9068941
G TIPIN TIMELESS interacting protein JBrowse link 1 164,349,196 164,369,297 RGD:9068941
cardiofaciocutaneous syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BRAF B-Raf proto-oncogene, serine/threonine kinase JBrowse link 18 8,957,963 9,132,558 RGD:7240710
G KRAS KRAS proto-oncogene, GTPase JBrowse link 5 48,508,774 48,546,260 RGD:9068941
G MAP2K2 mitogen-activated protein kinase kinase 2 JBrowse link 2 74,626,739 74,651,352 RGD:9068941
cardiofaciocutaneous syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRAS KRAS proto-oncogene, GTPase JBrowse link 5 48,508,774 48,546,260 RGD:7240710
cardiofaciocutaneous syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MAP2K1 mitogen-activated protein kinase kinase 1 JBrowse link 1 164,381,892 164,469,313 RGD:7240710
cardiofaciocutaneous syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MAP2K2 mitogen-activated protein kinase kinase 2 JBrowse link 2 74,626,739 74,651,352 RGD:7240710
Carvajal syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DSP desmoplakin JBrowse link 7 4,862,649 4,915,626 RGD:7240710
ceft palate, cardiac defects, and intellectual disabillity term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MEIS2 Meis homeobox 2 JBrowse link 1 134,013,642 134,223,013 RGD:7240710
Char syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TFAP2B transcription factor AP-2 beta JBrowse link 7 44,745,653 44,774,563 RGD:7240710
CHOPS Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AFF4 AF4/FMR2 family member 4 JBrowse link 2 135,196,067 135,283,931 RGD:7240710
chromosome 22q11.2 deletion syndrome, distal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100153093 RIMS-binding protein 3A JBrowse link 14 50,323,037 50,331,111 RGD:9068941
G LOC100154312 coiled-coil domain-containing protein 116 JBrowse link 14 50,255,859 50,260,743 RGD:9068941
G LOC110256677 zinc finger protein 280A-like JBrowse link 14 48,882,955 48,888,138 RGD:9068941
G MAPK1 mitogen-activated protein kinase 1 JBrowse link 14 50,083,079 50,165,528 RGD:9068941
G PPIL2 peptidylprolyl isomerase like 2 JBrowse link 14 50,206,807 50,232,845 RGD:9068941
G PPM1F protein phosphatase, Mg2+/Mn2+ dependent 1F JBrowse link 14 50,040,612 50,083,047 RGD:9068941
G PRAME PRAME nuclear receptor transcriptional regulator JBrowse link 14 48,901,097 48,906,855 RGD:9068941
G SDF2L1 stromal cell derived factor 2 like 1 JBrowse link 14 50,249,607 50,251,636 RGD:9068941
G TMEM191C transmembrane protein 191C JBrowse link 14 50,378,957 50,383,573 RGD:9068941
G TOP3B DNA topoisomerase III beta JBrowse link 14 50,020,412 50,037,854 RGD:9068941
G UBE2L3 ubiquitin conjugating enzyme E2 L3 JBrowse link 14 50,265,102 50,315,409 RGD:9068941
G VPREB1 V-set pre-B cell surrogate light chain 1 JBrowse link 14 49,972,058 49,972,768 RGD:9068941
G YDJC YdjC chitooligosaccharide deacetylase homolog JBrowse link 14 50,260,813 50,262,553 RGD:9068941
G YPEL1 yippee like 1 JBrowse link 14 50,190,641 50,208,732 RGD:9068941
Common Ventricle term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NKX2-5 NK2 homeobox 5 JBrowse link 16 51,086,014 51,089,165 RGD:9068941
Congenital Agenesis of the Tricuspid Valve term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LRP1 LDL receptor related protein 1 JBrowse link 5 22,435,636 22,519,276 RGD:9068941
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PRKD1 protein kinase D1 JBrowse link 7 69,527,743 69,872,374 RGD:7240710
Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CDK13 cyclin dependent kinase 13 JBrowse link 18 54,310,311 54,430,060 RGD:7240710
congenital heart defects, hamartomas of tongue, and polysyndactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G WDPCP WD repeat containing planar cell polarity effector JBrowse link 3 78,435,154 78,726,313 RGD:7240710
Congenital Heart Defects, Multiple Types, 1, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ZIC3 Zic family member 3 JBrowse link X 112,592,951 112,605,087 RGD:7240710
Congenital Heart Defects, Multiple Types, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 JBrowse link 1 16,533,364 16,611,879 RGD:7240710
Congenital Heart Defects, Multiple Types, 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHEK2 checkpoint kinase 2 JBrowse link 14 45,699,833 45,967,350 RGD:9068941
Congenital Heart Defects, Multiple Types, 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NR2F2 nuclear receptor subfamily 2 group F member 2 JBrowse link 7 83,076,119 83,090,250 RGD:7240710
Congenital Heart Defects, Multiple Types, 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GATA5 GATA binding protein 5 JBrowse link 17 61,824,891 61,834,742 RGD:7240710
Congenital Heart Defects, Multiple Types, 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FLT4 fms related receptor tyrosine kinase 4 JBrowse link 2 78,076,008 78,115,137 RGD:7240710
Congenitally Corrected Transposition of the Great Arteries term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NODAL nodal growth differentiation factor JBrowse link 14 73,350,358 73,357,064 RGD:9068941
Conotruncal Cardiac Defects term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADD1 adducin 1 JBrowse link 8 1,627,146 1,710,653 RGD:9068941
G GATA6 GATA binding protein 6 JBrowse link 6 107,282,709 107,314,725 RGD:7240710
G MTHFR methylenetetrahydrofolate reductase JBrowse link 6 71,863,637 71,882,118 RGD:9068941
G NKX2-5 NK2 homeobox 5 JBrowse link 16 51,086,014 51,089,165 RGD:7240710
G NKX2-6 NK2 homeobox 6 JBrowse link 14 7,811,200 7,815,553 RGD:7240710
G TBX1 T-box transcription factor 1 JBrowse link 14 51,289,376 51,297,110 RGD:7240710
Coronary Vessel Anomalies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GCLC glutamate-cysteine ligase catalytic subunit JBrowse link 7 27,209,565 27,253,535 RGD:9068941
Deafness, Congenital Heart Defects, and Posterior Embryotoxon term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G JAG1 jagged canonical Notch ligand 1 JBrowse link 17 19,591,248 19,629,659 RGD:9068941
developmental cardiac valvular defect term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 JBrowse link 7 88,471,317 88,533,690 RGD:9068941
G PLD1 phospholipase D1 JBrowse link 13 110,152,268 110,376,319 RGD:7240710
dextro-looped transposition of the great arteries term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GDF1 growth differentiation factor 1 JBrowse link 2 58,972,918 58,976,294 RGD:9068941
G MED13L mediator complex subunit 13L JBrowse link 14 36,061,834 36,384,567 RGD:9068941
G MTHFR methylenetetrahydrofolate reductase JBrowse link 6 71,863,637 71,882,118 RGD:9068941
G SLC19A1 solute carrier family 19 member 1 JBrowse link 13 207,986,094 208,007,855 RGD:9068941
dextro-looped transposition of the great arteries 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MED13L mediator complex subunit 13L JBrowse link 14 36,061,834 36,384,567 RGD:7240710
dextro-looped transposition of the great arteries 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CERS1 ceramide synthase 1 JBrowse link 2 58,951,463 58,972,692 RGD:9068941
G GDF1 growth differentiation factor 1 JBrowse link 2 58,972,918 58,976,294 RGD:7240710
dextrocardia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CFAP53 cilia and flagella associated protein 53 JBrowse link 1 99,848,184 99,900,001 RGD:9068941
G RAI2 retinoic acid induced 2 JBrowse link X 14,246,776 14,633,071 RGD:9068941
G ROCK2 Rho associated coiled-coil containing protein kinase 2 JBrowse link 3 125,353,063 125,493,368 RGD:9068941
G SUPT16H SPT16 homolog, facilitates chromatin remodeling subunit JBrowse link 7 77,780,968 77,814,519 RGD:9068941
G ZFYVE16 zinc finger FYVE-type containing 16 JBrowse link 2 89,044,860 89,109,237 RGD:9068941
G ZIC3 Zic family member 3 JBrowse link X 112,592,951 112,605,087 RGD:9068941
DiGeorge syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AIFM3 apoptosis inducing factor mitochondria associated 3 JBrowse link 14 50,562,611 50,576,273 RGD:9068941
G ALDH1A2 aldehyde dehydrogenase 1 family member A2 JBrowse link 1 113,932,722 114,037,059 RGD:9068941
G ARVCF ARVCF delta catenin family member JBrowse link 14 51,403,215 51,440,036 RGD:9068941
G BCR BCR activator of RhoGEF and GTPase JBrowse link 14 49,208,662 49,322,109 RGD:9068941
G C14H22orf39 chromosome 14 C22orf39 homolog JBrowse link 14 51,106,984 51,112,385 RGD:9068941
G CDC45 cell division cycle 45 JBrowse link 14 51,133,111 51,158,604 RGD:9068941
G CLDN5 claudin 5 JBrowse link 14 51,161,490 51,162,382 RGD:9068941
G COMT catechol-O-methyltransferase JBrowse link 14 51,384,729 51,403,997 RGD:9068941
G CRKL CRK like proto-oncogene, adaptor protein JBrowse link 14 50,528,950 50,558,664 RGD:9068941
G DGCR2 DiGeorge syndrome critical region gene 2 JBrowse link 14 50,881,260 50,935,603 RGD:9068941
G DGCR6L DiGeorge syndrome critical region gene 6 like JBrowse link 14 51,644,840 51,657,368 RGD:9068941
G DGCR8 DGCR8 microprocessor complex subunit JBrowse link 14 51,473,512 51,489,535 RGD:9068941
G DVL1 dishevelled segment polarity protein 1 JBrowse link 6 63,617,787 63,628,965 RGD:9068941
G ESS2 ess-2 splicing factor homolog JBrowse link 14 50,945,121 50,956,018 RGD:9068941
G FGF8 fibroblast growth factor 8 JBrowse link 14 112,808,215 112,814,225 RGD:9068941
G GGT1 gamma-glutamyltransferase 1 JBrowse link 14 49,618,737 49,638,054 RGD:9068941
G GNAZ G protein subunit alpha z JBrowse link 14 49,132,012 49,174,114 RGD:9068941
G GNB1L G protein subunit beta 1 like JBrowse link 14 51,306,561 51,343,040 RGD:9068941
G GP1BB glycoprotein Ib platelet subunit beta JBrowse link 14 51,261,097 51,261,903 RGD:9068941
G GSC2 goosecoid homeobox 2 JBrowse link 14 50,956,315 50,960,424 RGD:9068941
G HIC2 HIC ZBTB transcriptional repressor 2 JBrowse link 14 50,347,575 50,373,007 RGD:9068941
G HIRA histone cell cycle regulator JBrowse link 14 51,029,117 51,102,409 RGD:9068941
G KAT6A lysine acetyltransferase 6A JBrowse link 17 11,002,818 11,109,974 RGD:9068941
G KLHL22 kelch like family member 22 JBrowse link 14 50,773,917 50,809,991 RGD:9068941
G LOC100153093 RIMS-binding protein 3A JBrowse link 14 50,323,037 50,331,111 RGD:9068941
G LOC100154312 coiled-coil domain-containing protein 116 JBrowse link 14 50,255,859 50,260,743 RGD:9068941
G LOC100523213 immunoglobulin lambda-like polypeptide 5 JBrowse link 14 49,951,542 49,960,517 RGD:9068941
G LOC110256626 proline dehydrogenase 1, mitochondrial JBrowse link 14 51,624,919 51,644,467 RGD:9068941
G LOC110256677 zinc finger protein 280A-like JBrowse link 14 48,882,955 48,888,138 RGD:9068941
G LZTR1 leucine zipper like transcription regulator 1 JBrowse link 14 50,576,413 50,590,397 RGD:9068941
G MAPK1 mitogen-activated protein kinase 1 JBrowse link 14 50,083,079 50,165,528 RGD:9068941
G MED15 mediator complex subunit 15 JBrowse link 14 50,703,010 50,759,310 RGD:9068941
G MICAL3 microtubule associated monooxygenase, calponin and LIM domain containing 3 JBrowse link 5 69,887,884 70,132,969 RGD:9068941
G MRPL40 mitochondrial ribosomal protein L40 JBrowse link 14 51,102,900 51,105,769 RGD:9068941
G P2RX6 purinergic receptor P2X 6 JBrowse link 14 50,595,876 50,633,536 RGD:9068941
G PEX26 peroxisomal biogenesis factor 26 JBrowse link 5 70,133,024 70,142,515 RGD:9068941
G PI4KA phosphatidylinositol 4-kinase alpha JBrowse link 14 50,390,416 50,491,983 RGD:9068941
G PPIL2 peptidylprolyl isomerase like 2 JBrowse link 14 50,206,807 50,232,845 RGD:9068941
G PPM1F protein phosphatase, Mg2+/Mn2+ dependent 1F JBrowse link 14 50,040,612 50,083,047 RGD:9068941
G PRAME PRAME nuclear receptor transcriptional regulator JBrowse link 14 48,901,097 48,906,855 RGD:9068941
G RAB36 RAB36, member RAS oncogene family JBrowse link 14 49,186,282 49,202,334 RGD:9068941
G RANBP1 RAN binding protein 1 JBrowse link 14 51,494,258 51,500,420 RGD:9068941
G RSPH14 radial spoke head 14 homolog JBrowse link 14 49,123,934 49,186,157 RGD:9068941
G RTL10 retrotransposon Gag like 10 JBrowse link 14 51,338,134 51,342,383 RGD:9068941
G RTN4R reticulon 4 receptor JBrowse link 14 51,579,043 51,603,180 RGD:9068941
G SCARF2 scavenger receptor class F member 2 JBrowse link 14 50,813,161 50,824,434 RGD:9068941
G SDF2L1 stromal cell derived factor 2 like 1 JBrowse link 14 50,249,607 50,251,636 RGD:9068941
G SEPTIN5 septin 5 JBrowse link 14 51,252,815 51,260,851 RGD:9068941
G SERPIND1 serpin family D member 1 JBrowse link 14 50,427,121 50,436,470 RGD:9068941
G SLC25A1 solute carrier family 25 member 1 JBrowse link 14 50,974,616 51,002,970 RGD:9068941
G SLC7A4 solute carrier family 7 member 4 JBrowse link 14 50,631,693 50,638,381 RGD:9068941
G SNAP29 synaptosome associated protein 29 JBrowse link 14 50,492,187 50,511,475 RGD:9068941
G TANGO2 transport and golgi organization 2 homolog JBrowse link 14 51,443,597 51,464,370 RGD:9068941
G TBX1 T-box transcription factor 1 JBrowse link 14 51,289,376 51,297,110 RGD:7240710
G THAP7 THAP domain containing 7 JBrowse link 14 50,591,412 50,593,778 RGD:9068941
G TMEM191C transmembrane protein 191C JBrowse link 14 50,378,957 50,383,573 RGD:9068941
G TOP3B DNA topoisomerase III beta JBrowse link 14 50,020,412 50,037,854 RGD:9068941
G TRMT2A tRNA methyltransferase 2 homolog A JBrowse link 14 51,489,889 51,494,204 RGD:9068941
G TSSK2 testis specific serine kinase 2 JBrowse link 14 50,943,017 50,944,093 RGD:9068941
G TUBA8 tubulin alpha 8 JBrowse link 5 70,154,251 70,174,001 RGD:9068941
G TXNRD2 thioredoxin reductase 2 JBrowse link 14 51,355,731 51,385,096 RGD:9068941
G UBE2L3 ubiquitin conjugating enzyme E2 L3 JBrowse link 14 50,265,102 50,315,409 RGD:9068941
G UFD1 ubiquitin recognition factor in ER associated degradation 1 JBrowse link 14 51,113,858 51,132,820 RGD:9068941
G USP18 ubiquitin specific peptidase 18 JBrowse link 5 70,183,321 70,227,990 RGD:9068941
G VPREB1 V-set pre-B cell surrogate light chain 1 JBrowse link 14 49,972,058 49,972,768 RGD:9068941
G YDJC YdjC chitooligosaccharide deacetylase homolog JBrowse link 14 50,260,813 50,262,553 RGD:9068941
G YPEL1 yippee like 1 JBrowse link 14 50,190,641 50,208,732 RGD:9068941
G ZDHHC8 zinc finger DHHC-type palmitoyltransferase 8 JBrowse link 14 51,503,074 51,517,577 RGD:9068941
G ZNF74 zinc finger protein 74 JBrowse link 14 50,840,500 50,869,945 RGD:9068941
dilated cardiomyopathy 1S term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DES desmin JBrowse link 15 121,428,539 121,435,426 RGD:9068941
G DSC2 desmocollin 2 JBrowse link 6 114,982,259 115,021,332 RGD:9068941
G DSP desmoplakin JBrowse link 7 4,862,649 4,915,626 RGD:9068941
G LAMA4 laminin subunit alpha 4 JBrowse link 1 78,071,990 78,224,564 RGD:9068941
G LMNA lamin A/C JBrowse link 4 93,899,019 93,927,255 RGD:9068941
G MYH7 myosin heavy chain 7 JBrowse link 7 75,650,841 75,672,908 RGD:7240710
G MYL2 myosin light chain 2 JBrowse link 14 32,205,953 32,213,848 RGD:9068941
G NEXN nexilin F-actin binding protein JBrowse link 6 135,315,000 135,382,911 RGD:9068941
G PKP2 plakophilin 2 JBrowse link 5 41,424,687 41,509,590 RGD:9068941
G RBM20 RNA binding motif protein 20 JBrowse link 14 121,058,896 121,269,824 RGD:9068941
G TNNC1 troponin C1, slow skeletal and cardiac type JBrowse link 13 34,591,571 34,594,320 RGD:9068941
G TNNT2 troponin T2, cardiac type JBrowse link 10 23,749,528 23,759,696 RGD:9068941
G TTN titin JBrowse link 15 84,226,953 84,501,320 RGD:9068941
G VCL vinculin JBrowse link 14 76,700,143 76,811,875 RGD:9068941
Dilated Cardiomyopathy with Left Ventricular Noncompaction term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACTC1 actin alpha cardiac muscle 1 JBrowse link 1 136,281,119 136,286,551 RGD:9068941
G ACTN2 actinin alpha 2 JBrowse link 14 54,670,727 54,742,717 RGD:9068941
G CBL Cbl proto-oncogene JBrowse link 9 46,416,937 46,512,855 RGD:9068941
G CTNNA3 catenin alpha 3 JBrowse link 14 69,195,231 70,974,543 RGD:9068941
G DES desmin JBrowse link 15 121,428,539 121,435,426 RGD:9068941
G DMD dystrophin JBrowse link X 27,028,223 29,650,728 RGD:9068941
G DNASE1L1 deoxyribonuclease 1 like 1 JBrowse link X 124,931,410 124,937,569 RGD:9068941
G DSG2 desmoglein 2 JBrowse link 6 115,400,223 115,453,763 RGD:9068941
G DSP desmoplakin JBrowse link 7 4,862,649 4,915,626 RGD:9068941
G DTNA dystrobrevin alpha JBrowse link 6 118,333,069 118,753,516 RGD:9068941
G EYA4 EYA transcriptional coactivator and phosphatase 4 JBrowse link 1 30,260,784 30,575,593 RGD:9068941
G FHL2 four and a half LIM domains 2 JBrowse link 3 49,389,900 49,448,459 RGD:9068941
G JPH2 junctophilin 2 JBrowse link 17 46,590,302 46,665,326 RGD:9068941
G JUP junction plakoglobin JBrowse link 12 20,902,395 20,931,208 RGD:9068941
G LAMA4 laminin subunit alpha 4 JBrowse link 1 78,071,990 78,224,564 RGD:9068941
G LDB3 LIM domain binding 3 JBrowse link 14 87,660,961 87,722,249 RGD:9068941
G MYBPC3 myosin binding protein C3 JBrowse link 2 15,247,679 15,269,714 RGD:9068941
G MYH7 myosin heavy chain 7 JBrowse link 7 75,650,841 75,672,908 RGD:9068941
G MYLK2 myosin light chain kinase 2 JBrowse link 17 35,499,828 35,513,096 RGD:9068941
G MYPN myopalladin JBrowse link 14 71,283,271 71,388,591 RGD:9068941
G NEXN nexilin F-actin binding protein JBrowse link 6 135,315,000 135,382,911 RGD:9068941
G PRDM16 PR/SET domain 16 JBrowse link 6 64,704,181 65,012,580 RGD:9068941
G RYR2 ryanodine receptor 2 JBrowse link 14 53,652,140 54,406,691 RGD:9068941
G SCN5A sodium voltage-gated channel alpha subunit 5 JBrowse link 13 23,336,143 23,424,755 RGD:9068941
G TAZ tafazzin JBrowse link X 124,940,036 124,946,275 RGD:9068941
G TCAP titin-cap JBrowse link 12 22,651,666 22,652,904 RGD:9068941
G TMEM43 transmembrane protein 43 JBrowse link 13 70,397,069 70,417,213 RGD:9068941
G TNNT2 troponin T2, cardiac type JBrowse link 10 23,749,528 23,759,696 RGD:9068941
G TPM1 tropomyosin 1 JBrowse link 1 108,986,981 109,016,090 RGD:9068941
G TTN titin JBrowse link 15 84,226,953 84,501,320 RGD:9068941
G VCL vinculin JBrowse link 14 76,700,143 76,811,875 RGD:9068941
Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DSP desmoplakin JBrowse link 7 4,862,649 4,915,626 RGD:7240710
double outlet right ventricle term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CERS1 ceramide synthase 1 JBrowse link 2 58,951,463 58,972,692 RGD:9068941
G GDF1 growth differentiation factor 1 JBrowse link 2 58,972,918 58,976,294 RGD:9068941
G MYCN MYCN proto-oncogene, bHLH transcription factor JBrowse link 3 121,543,201 121,549,678 RGD:9068941
G YES1 YES proto-oncogene 1, Src family tyrosine kinase JBrowse link 6 105,505,944 105,600,694 RGD:9068941
G ZFPM2 zinc finger protein, FOG family member 2 JBrowse link 4 31,607,968 31,996,226 RGD:9068941
Dursun Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G G6PC3 glucose-6-phosphatase catalytic subunit 3 JBrowse link 12 19,121,540 19,126,291 RGD:9068941
Ebstein anomaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CDK8 cyclin dependent kinase 8 JBrowse link 11 4,054,442 4,161,501 RGD:9068941
G CEP85L centrosomal protein 85 like JBrowse link 1 43,392,630 43,564,835 RGD:9068941
G MYH7 myosin heavy chain 7 JBrowse link 7 75,650,841 75,672,908 RGD:9068941
G PLN phospholamban JBrowse link 1 43,449,354 43,458,925 RGD:9068941
Eisenmenger Complex term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NPPB natriuretic peptide B JBrowse link 6 71,930,374 71,931,843 RGD:9068941
Endocardial Cushion Defects term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FOXP1 forkhead box P1 JBrowse link 13 52,346,844 52,974,358 RGD:9068941
Familial Atrial Fibrillation 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SCN4B sodium voltage-gated channel beta subunit 4 JBrowse link 9 45,451,473 45,475,606 RGD:9068941
Familial Thoracic Aortic Aneurysm 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCC1 ATP binding cassette subfamily C member 1 JBrowse link 3 28,360,868 28,472,940 RGD:9068941
G ABCC6 ATP binding cassette subfamily C member 6 JBrowse link 3 28,260,935 28,356,706 RGD:9068941
G BMERB1 bMERB domain containing 1 JBrowse link 3 7,248,806 7,387,523 RGD:9068941
G CEP20 centrosomal protein 20 JBrowse link 3 6,977,195 6,996,024 RGD:9068941
G MARF1 meiosis regulator and mRNA stability factor 1 JBrowse link 3 7,180,762 7,228,229 RGD:9068941
G MPV17L MPV17 mitochondrial inner membrane protein like JBrowse link 3 7,423,083 7,441,583 RGD:9068941
G MYH11 myosin heavy chain 11 JBrowse link 3 7,002,667 7,143,093 RGD:7240710
G NDE1 nudE neurodevelopment protein 1 JBrowse link 3 7,145,094 7,174,691 RGD:9068941
Floating-Harbor syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SRCAP Snf2 related CREBBP activator protein JBrowse link 3 17,662,374 17,702,862 RGD:7240710
Frank-Ter Haar syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SH3PXD2B SH3 and PX domains 2B JBrowse link 16 51,733,170 51,858,774 RGD:7240710
HEART AND BRAIN MALFORMATION SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SMG9 SMG9 nonsense mediated mRNA decay factor JBrowse link 6 50,550,743 50,569,753 RGD:7240710
heart septal defect term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BMPR2 bone morphogenetic protein receptor type 2 JBrowse link 15 105,971,577 106,132,496 RGD:9068941
G CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 JBrowse link 1 25,155,652 25,158,517 RGD:9068941
G CRELD1 cysteine rich with EGF like domains 1 JBrowse link 13 66,194,795 66,203,419 RGD:9068941
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase JBrowse link 16 74,245,214 74,270,828 RGD:9068941
G NKX2-5 NK2 homeobox 5 JBrowse link 16 51,086,014 51,089,165 RGD:9068941
G PCSK5 proprotein convertase subtilisin/kexin type 5 JBrowse link 1 228,854,587 229,308,054 RGD:9068941
G PITX2 paired like homeodomain 2 JBrowse link 8 111,697,364 111,723,295 RGD:9068941
Heart-Hand Syndrome, Slovenian Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LMNA lamin A/C JBrowse link 4 93,899,019 93,927,255 RGD:7240710
Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ECE1 endothelin converting enzyme 1 JBrowse link 6 79,408,322 79,465,827 RGD:7240710
Hittner Hirsch Kreh Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHD7 chromodomain helicase DNA binding protein 7 JBrowse link 4 72,572,455 72,754,443 RGD:9068941
Holt-Oram syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LYPLAL1 lysophospholipase like 1 JBrowse link 10 8,946,463 9,061,033 RGD:9068941
G SALL4 spalt like transcription factor 4 JBrowse link 17 53,082,610 53,103,023 RGD:9068941
G TBX5 T-box transcription factor 5 JBrowse link 14 37,772,205 37,826,015 RGD:7240710
G TGFB2 transforming growth factor beta 2 JBrowse link 10 8,306,136 8,435,307 RGD:9068941
hydrolethalus syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HYLS1 HYLS1 centriolar and ciliogenesis associated JBrowse link 9 53,008,944 53,027,307 RGD:9068941
G KIF7 kinesin family member 7 JBrowse link 7 55,200,591 55,220,237 RGD:9068941
G PUS3 pseudouridine synthase 3 JBrowse link 9 53,018,878 53,028,605 RGD:9068941
hydrolethalus syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HYLS1 HYLS1 centriolar and ciliogenesis associated JBrowse link 9 53,008,944 53,027,307 RGD:7240710
G KIF7 kinesin family member 7 JBrowse link 7 55,200,591 55,220,237 RGD:9068941
G PUS3 pseudouridine synthase 3 JBrowse link 9 53,018,878 53,028,605 RGD:9068941
hydrolethalus syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KIF7 kinesin family member 7 JBrowse link 7 55,200,591 55,220,237 RGD:7240710
hypoplastic left heart syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CFAP53 cilia and flagella associated protein 53 JBrowse link 1 99,848,184 99,900,001 RGD:9068941
G FOXP1 forkhead box P1 JBrowse link 13 52,346,844 52,974,358 RGD:9068941
G GJA1 gap junction protein alpha 1 JBrowse link 1 40,988,818 41,002,129 RGD:9068941
G HAND1 heart and neural crest derivatives expressed 1 JBrowse link 16 68,679,977 68,683,346 RGD:9068941
G LOC102160959 protocadherin alpha-13 JBrowse link 2 142,547,032 142,657,171 RGD:9068941
G MYH7 myosin heavy chain 7 JBrowse link 7 75,650,841 75,672,908 RGD:9068941
G NKX2-5 NK2 homeobox 5 JBrowse link 16 51,086,014 51,089,165 RGD:9068941
G SAP130 Sin3A associated protein 130 JBrowse link 15 59,312,401 59,408,813 RGD:9068941
G TBX1 T-box transcription factor 1 JBrowse link 14 51,289,376 51,297,110 RGD:9068941
G TBX20 T-box transcription factor 20 JBrowse link 18 38,635,603 38,681,690 RGD:9068941
Hypoplastic Left Heart Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FOXP1 forkhead box P1 JBrowse link 13 52,346,844 52,974,358 RGD:9068941
G GJA1 gap junction protein alpha 1 JBrowse link 1 40,988,818 41,002,129 RGD:7240710
G HAND1 heart and neural crest derivatives expressed 1 JBrowse link 16 68,679,977 68,683,346 RGD:9068941
Hypoplastic Left Heart Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NKX2-5 NK2 homeobox 5 JBrowse link 16 51,086,014 51,089,165 RGD:7240710
hypoplastic right heart syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TBX20 T-box transcription factor 20 JBrowse link 18 38,635,603 38,681,690 RGD:9068941
Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TMEM94 transmembrane protein 94 JBrowse link 12 5,870,092 5,905,789 RGD:7240710
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NKAP NFKB activating protein JBrowse link X 98,233,504 98,276,839 RGD:7240710
Isolated Noncompaction of the Ventricular Myocardium term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NR2C2 nuclear receptor subfamily 2 group C member 2 JBrowse link 13 69,464,798 69,577,638 RGD:9068941
Jervell And Lange-Nielsen Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 JBrowse link 13 198,051,281 198,059,444 RGD:7240710
Jervell-Lange Nielsen syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 JBrowse link 13 198,051,281 198,059,444 RGD:9068941
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 JBrowse link 2 1,675,323 1,989,110 RGD:7240710
Kartagener syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ARMC4 armadillo repeat containing 4 JBrowse link 10 39,276,423 39,463,096 RGD:9068941
G CCDC103 coiled-coil domain containing 103 JBrowse link 12 18,469,705 18,474,316 RGD:9068941
G CCDC114 coiled-coil domain containing 114 JBrowse link 6 53,729,915 53,754,508 RGD:9068941
G CCDC151 coiled-coil domain containing 151 JBrowse link 2 70,088,119 70,097,027 RGD:9068941
G CCDC40 coiled-coil domain containing 40 JBrowse link 12 2,341,953 2,384,066 RGD:9068941
G CCNO cyclin O JBrowse link 16 34,387,179 34,390,611 RGD:9068941
G CFAP298 cilia and flagella associated protein 298 JBrowse link 13 196,210,006 196,225,395 RGD:9068941
G DNAAF1 dynein axonemal assembly factor 1 JBrowse link 6 4,457,283 4,483,641 RGD:9068941
G DNAAF2 dynein axonemal assembly factor 2 JBrowse link 1 179,482,189 179,491,136 RGD:9068941
G DNAAF4 dynein axonemal assembly factor 4 JBrowse link 1 116,331,217 116,431,673 RGD:9068941
G DNAH1 dynein axonemal heavy chain 1 JBrowse link 13 34,455,154 34,544,147 RGD:9068941
G DNAH11 dynein axonemal heavy chain 11 JBrowse link 9 90,420,044 90,768,327 RGD:9068941
G DNAH5 dynein axonemal heavy chain 5 JBrowse link 16 3,114,267 3,366,189 RGD:9068941
G DNAH8 dynein axonemal heavy chain 8 JBrowse link 7 34,197,185 34,479,640 RGD:9068941
G DNAI1 dynein axonemal intermediate chain 1 JBrowse link 10 32,275,173 32,355,444 RGD:9068941
G DNAI2 dynein axonemal intermediate chain 2 JBrowse link 12 6,808,966 6,832,767 RGD:9068941
G DNAL1 dynein axonemal light chain 1 JBrowse link 7 96,999,526 97,047,102 RGD:9068941
G DRC1 dynein regulatory complex subunit 1 JBrowse link 3 112,581,765 112,621,664 RGD:9068941
G HYDIN HYDIN axonemal central pair apparatus protein JBrowse link 6 13,895,276 14,307,790 RGD:9068941
G LRRC6 leucine rich repeat containing 6 JBrowse link 4 8,531,612 8,605,904 RGD:9068941
G MBL2 mannose binding lectin 2 JBrowse link 14 97,103,926 97,107,635 RGD:9068941
G MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein JBrowse link 16 34,377,130 34,386,095 RGD:9068941
G POLR2K RNA polymerase II, I and III subunit K JBrowse link 4 36,849,729 36,852,622 RGD:9068941
G RSPH1 radial spoke head component 1 JBrowse link 13 205,808,923 205,827,098 RGD:9068941
G RSPH3 radial spoke head 3 JBrowse link 1 8,243,177 8,265,816 RGD:9068941
G RSPH4A radial spoke head component 4A JBrowse link 1 44,964,433 45,004,925 RGD:9068941
G SPAG1 sperm associated antigen 1 JBrowse link 4 36,746,798 36,844,662 RGD:9068941
G ZMYND10 zinc finger MYND-type containing 10 JBrowse link 13 32,825,398 32,830,037 RGD:9068941
Kleefstra syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EHMT1 euchromatic histone lysine methyltransferase 1 RGD:9068941
Kleefstra syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCA2 ATP binding cassette subfamily A member 2 RGD:9068941
G AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 RGD:9068941
G ANAPC2 anaphase promoting complex subunit 2 RGD:9068941
G ARRDC1 arrestin domain containing 1 RGD:9068941
G C8G complement C8 gamma chain RGD:9068941
G CAMSAP1 calmodulin regulated spectrin associated protein 1 RGD:9068941
G CARD9 caspase recruitment domain family member 9 RGD:9068941
G CCDC183 coiled-coil domain containing 183 RGD:9068941
G CLIC3 chloride intracellular channel 3 RGD:9068941
G CYSRT1 cysteine rich tail 1 RGD:9068941
G DIPK1B divergent protein kinase domain 1B RGD:9068941
G DNLZ DNL-type zinc finger RGD:9068941
G DPH7 diphthamide biosynthesis 7 RGD:9068941
G DPP7 dipeptidyl peptidase 7 RGD:9068941
G EDF1 endothelial differentiation related factor 1 RGD:9068941
G EGFL7 EGF like domain multiple 7 RGD:9068941
G EHMT1 euchromatic histone lysine methyltransferase 1 RGD:7240710
G ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 RGD:9068941
G ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 RGD:9068941
G ENTR1 endosome associated trafficking regulator 1 RGD:9068941
G EXD3 exonuclease 3'-5' domain containing 3 RGD:9068941
G FAM166A family with sequence similarity 166 member A RGD:9068941
G FBXW5 F-box and WD repeat domain containing 5 RGD:9068941
G FUT7 fucosyltransferase 7 RGD:9068941
G GPSM1 G protein signaling modulator 1 RGD:9068941
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 RGD:9068941
G INPP5E inositol polyphosphate-5-phosphatase E RGD:9068941
G KCNT1 potassium sodium-activated channel subfamily T member 1 RGD:9068941
G LCN10 lipocalin 10 RGD:9068941
G LCN12 lipocalin 12 RGD:9068941
G LCN15 lipocalin 15 RGD:9068941
G LCN6 lipocalin 6 RGD:9068941
G LHX3 LIM homeobox 3 RGD:9068941
G LOC100513261 14 kDa phosphohistidine phosphatase RGD:9068941
G LOC110258087 endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase-like RGD:9068941
G LRRC26 leucine rich repeat containing 26 RGD:9068941
G MIR126 microRNA mir-126 RGD:9068941
G MRPL41 mitochondrial ribosomal protein L41 RGD:9068941
G NACC2 NACC family member 2 RGD:9068941
G NDOR1 NADPH dependent diflavin oxidoreductase 1 RGD:9068941
G NELFB negative elongation factor complex member B RGD:9068941
G NOTCH1 notch receptor 1 RGD:9068941
G NOXA1 NADPH oxidase activator 1 RGD:9068941
G NPDC1 neural proliferation, differentiation and control 1 RGD:9068941
G NR1I3 nuclear receptor subfamily 1 group I member 3 JBrowse link 4 89,226,314 89,231,781 RGD:9068941
G NRARP NOTCH regulated ankyrin repeat protein RGD:9068941
G NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor RGD:9068941
G PAEP progestagen associated endometrial protein RGD:9068941
G PAXX PAXX non-homologous end joining factor RGD:9068941
G PMPCA peptidase, mitochondrial processing subunit alpha RGD:9068941
G PNPLA7 patatin like phospholipase domain containing 7 RGD:9068941
G PTGDS prostaglandin D2 synthase RGD:9068941
G QSOX2 quiescin sulfhydryl oxidase 2 RGD:9068941
G RABL6 RAB, member RAS oncogene family like 6 RGD:9068941
G RNF208 ring finger protein 208 RGD:9068941
G RNF224 ring finger protein 224 RGD:9068941
G SAPCD2 suppressor APC domain containing 2 RGD:9068941
G SEC16A SEC16 homolog A, endoplasmic reticulum export factor RGD:9068941
G SLC34A3 solute carrier family 34 member 3 RGD:9068941
G SNAPC4 small nuclear RNA activating complex polypeptide 4 RGD:9068941
G SSNA1 SS nuclear autoantigen 1 RGD:9068941
G STPG3 sperm-tail PG-rich repeat containing 3 RGD:9068941
G TMEM141 transmembrane protein 141 RGD:9068941
G TMEM203 transmembrane protein 203 RGD:9068941
G TMEM210 transmembrane protein 210 RGD:9068941
G TMEM250 transmembrane protein 250 RGD:9068941
G TOR4A torsin family 4 member A RGD:9068941
G TPRN taperin RGD:9068941
G TRAF2 TNF receptor associated factor 2 RGD:9068941
G TUBB4B tubulin beta 4B class IVb RGD:9068941
G UAP1L1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 RGD:9068941
G UBAC1 UBA domain containing 1 RGD:9068941
G ZMYND19 zinc finger MYND-type containing 19 RGD:9068941
Kleefstra syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KMT2C lysine methyltransferase 2C JBrowse link 18 4,993,213 5,279,668 RGD:7240710
Larsen-like syndrome B3GAT3 type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3GAT3 beta-1,3-glucuronyltransferase 3 JBrowse link 2 9,119,621 9,125,081 RGD:7240710
G B4GALT7 beta-1,4-galactosyltransferase 7 JBrowse link 2 80,349,732 80,359,878 RGD:9068941
G CHST3 carbohydrate sulfotransferase 3 JBrowse link 14 74,850,931 74,891,527 RGD:9068941
G COL11A2 collagen type XI alpha 2 chain JBrowse link 7 25,204,496 25,234,880 RGD:9068941
left ventricular noncompaction term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ANKRD1 ankyrin repeat domain 1 JBrowse link 14 102,603,777 102,612,857 RGD:9068941
G BAG3 BAG cochaperone 3 JBrowse link 14 129,510,240 129,533,998 RGD:9068941
G DSP desmoplakin JBrowse link 7 4,862,649 4,915,626 RGD:9068941
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 JBrowse link 7 60,010,396 60,052,258 RGD:9068941
G JUP junction plakoglobin JBrowse link 12 20,902,395 20,931,208 RGD:9068941
G LMNA lamin A/C JBrowse link 4 93,899,019 93,927,255 RGD:9068941
G MYBPC3 myosin binding protein C3 JBrowse link 2 15,247,679 15,269,714 RGD:9068941
G MYH7 myosin heavy chain 7 JBrowse link 7 75,650,841 75,672,908 RGD:9068941
G PKP2 plakophilin 2 JBrowse link 5 41,424,687 41,509,590 RGD:9068941
G RYR2 ryanodine receptor 2 JBrowse link 14 53,652,140 54,406,691 RGD:9068941
G SCN5A sodium voltage-gated channel alpha subunit 5 JBrowse link 13 23,336,143 23,424,755 RGD:9068941
G TAZ tafazzin JBrowse link X 124,940,036 124,946,275 RGD:9068941
G TGFB3 transforming growth factor beta 3 JBrowse link 7 99,133,873 99,162,239 RGD:9068941
G TPM1 tropomyosin 1 JBrowse link 1 108,986,981 109,016,090 RGD:9068941
G TTN titin JBrowse link 15 84,226,953 84,501,320 RGD:9068941
Left Ventricular Noncompaction 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DTNA dystrobrevin alpha JBrowse link 6 118,333,069 118,753,516 RGD:7240710
G LDB3 LIM domain binding 3 JBrowse link 14 87,660,961 87,722,249 RGD:9068941
Left Ventricular Noncompaction 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYBPC3 myosin binding protein C3 JBrowse link 2 15,247,679 15,269,714 RGD:7240710
Left Ventricular Noncompaction 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TTN titin JBrowse link 15 84,226,953 84,501,320 RGD:9068941
Left Ventricular Noncompaction 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MIB1 mindbomb E3 ubiquitin protein ligase 1 JBrowse link 6 106,917,995 107,043,144 RGD:7240710
Left Ventricular Noncompaction 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 JBrowse link 6 63,579,291 63,593,429 RGD:9068941
G ACTRT2 actin related protein T2 JBrowse link 6 64,664,484 64,665,774 RGD:9068941
G AGRN agrin JBrowse link 6 63,366,017 63,398,311 RGD:9068941
G ANKRD65 ankyrin repeat domain 65 JBrowse link 6 63,678,757 63,686,409 RGD:9068941
G AURKAIP1 aurora kinase A interacting protein 1 JBrowse link 6 63,656,120 63,657,568 RGD:9068941
G B3GALT6 beta-1,3-galactosyltransferase 6 JBrowse link 6 63,540,066 63,541,962 RGD:9068941
G C1QTNF12 C1q and TNF related 12 JBrowse link 6 63,548,862 63,555,991 RGD:9068941
G CALML6 calmodulin like 6 JBrowse link 6 63,970,359 63,971,973 RGD:9068941
G CCNL2 cyclin L2 JBrowse link 6 63,659,053 63,668,077 RGD:9068941
G CDK11B cyclin-dependent kinase 11B JBrowse link 6 63,804,914 63,819,960 RGD:9068941
G CFAP74 cilia and flagella associated protein 74 JBrowse link 6 63,976,011 64,038,899 RGD:9068941
G CPTP ceramide-1-phosphate transfer protein JBrowse link 6 63,607,991 63,612,325 RGD:9068941
G DVL1 dishevelled segment polarity protein 1 JBrowse link 6 63,617,787 63,628,965 RGD:9068941
G FAAP20 FA core complex associated protein 20 JBrowse link 6 64,160,760 64,169,663 RGD:9068941
G FNDC10 fibronectin type III domain containing 10 JBrowse link 6 63,762,059 63,765,483 RGD:9068941
G GABRD gamma-aminobutyric acid type A receptor subunit delta JBrowse link 6 64,049,665 64,059,644 RGD:9068941
G GNB1 G protein subunit beta 1 JBrowse link 6 63,867,155 63,957,514 RGD:9068941
G HES5 hes family bHLH transcription factor 5 JBrowse link 6 64,409,110 64,410,541 RGD:9068941
G INTS11 integrator complex subunit 11 JBrowse link 6 63,596,809 63,607,915 RGD:9068941
G LOC100525876 ATPase family AAA domain-containing protein 3 JBrowse link 6 63,706,155 63,721,574 RGD:9068941
G LOC100624218 MORN repeat-containing protein 1 JBrowse link 6 64,266,184 64,300,980 RGD:9068941
G MIB2 mindbomb E3 ubiquitin protein ligase 2 JBrowse link 6 63,787,200 63,800,425 RGD:9068941
G MMEL1 membrane metalloendopeptidase like 1 JBrowse link 6 64,436,778 64,470,888 RGD:9068941
G MMP23 matrix metallopeptidase 23 JBrowse link 6 63,801,668 63,804,275 RGD:9068941
G MRPL20 mitochondrial ribosomal protein L20 JBrowse link 6 63,670,750 63,675,834 RGD:9068941
G MXRA8 matrix remodeling associated 8 JBrowse link 6 63,630,936 63,635,623 RGD:9068941
G NADK NAD kinase JBrowse link 6 63,846,650 63,864,137 RGD:9068941
G PANK4 pantothenate kinase 4 (inactive) JBrowse link 6 64,393,092 64,407,443 RGD:9068941
G PEX10 peroxisomal biogenesis factor 10 JBrowse link 6 64,311,743 64,317,693 RGD:9068941
G PLCH2 phospholipase C eta 2 JBrowse link 6 64,325,918 64,392,070 RGD:9068941
G PRDM16 PR/SET domain 16 JBrowse link 6 64,704,181 65,012,580 RGD:7240710
G PRKCZ protein kinase C zeta JBrowse link 6 64,073,343 64,159,187 RGD:9068941
G PRXL2B peroxiredoxin like 2B JBrowse link 6 64,432,187 64,435,328 RGD:9068941
G PUSL1 pseudouridine synthase like 1 JBrowse link 6 63,593,539 63,596,921 RGD:9068941
G RER1 retention in endoplasmic reticulum sorting receptor 1 JBrowse link 6 64,301,139 64,311,526 RGD:9068941
G RNF223 ring finger protein 223 JBrowse link 6 63,413,080 63,445,277 RGD:9068941
G SCNN1D sodium channel epithelial 1 subunit delta JBrowse link 6 63,568,171 63,578,623 RGD:9068941
G SDF4 stromal cell derived factor 4 JBrowse link 6 63,529,853 63,539,979 RGD:9068941
G SKI SKI proto-oncogene JBrowse link 6 64,188,265 64,242,596 RGD:9068941
G SLC35E2 solute carrier family 35 member E2 JBrowse link 6 63,820,804 63,842,400 RGD:9068941
G SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase JBrowse link 6 63,728,318 63,757,460 RGD:9068941
G TAS1R3 taste 1 receptor member 3 JBrowse link 6 63,613,536 63,617,831 RGD:9068941
G TMEM240 transmembrane protein 240 JBrowse link 6 63,721,655 63,727,457 RGD:9068941
G TMEM52 transmembrane protein 52 JBrowse link 6 63,969,438 63,974,312 RGD:9068941
G TMEM88B transmembrane protein 88B JBrowse link 6 63,686,542 63,689,298 RGD:9068941
G TNFRSF18 TNF receptor superfamily member 18 JBrowse link 6 63,516,037 63,519,323 RGD:9068941
G TNFRSF4 TNF receptor superfamily member 4 JBrowse link 6 63,523,850 63,526,672 RGD:9068941
G TTC34 tetratricopeptide repeat domain 34 JBrowse link 6 64,478,117 64,499,034 RGD:9068941
G TTLL10 tubulin tyrosine ligase like 10 JBrowse link 6 63,494,759 63,513,884 RGD:9068941
G UBE2J2 ubiquitin conjugating enzyme E2 J2 JBrowse link 6 63,556,134 63,568,080 RGD:9068941
G VWA1 von Willebrand factor A domain containing 1 JBrowse link 6 63,695,195 63,700,296 RGD:9068941
Left-Right Axis Malformations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100524517 left-right determination factor 2 JBrowse link 10 13,815,157 13,819,249 RGD:9068941
Loeys-Dietz syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL3A1 collagen type III alpha 1 chain JBrowse link 15 93,556,914 93,595,678 RGD:9068941
G COL5A1 collagen type V alpha 1 chain JBrowse link 1 273,934,219 274,083,264 RGD:9068941
G COL5A2 collagen type V alpha 2 chain JBrowse link 15 93,611,856 93,981,131 RGD:9068941
G FBN1 fibrillin 1 JBrowse link 1 123,102,011 123,359,649 RGD:9068941
G FBN2 fibrillin 2 JBrowse link 2 131,150,665 131,370,241 RGD:9068941
G MYH11 myosin heavy chain 11 JBrowse link 3 7,002,667 7,143,093 RGD:9068941
G MYLK myosin light chain kinase JBrowse link 13 136,509,878 136,809,674 RGD:9068941
G SMAD3 SMAD family member 3 JBrowse link 1 164,998,457 165,124,455 RGD:9068941
G TGFB2 transforming growth factor beta 2 JBrowse link 10 8,306,136 8,435,307 RGD:9068941
G TGFB3 transforming growth factor beta 3 JBrowse link 7 99,133,873 99,162,239 RGD:9068941
G TGFBR1 transforming growth factor beta receptor 1 JBrowse link 1 240,842,735 240,918,267 RGD:9068941
G TGFBR2 transforming growth factor beta receptor 2 JBrowse link 13 16,784,370 16,875,828 RGD:9068941
Loeys-Dietz syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TGFBR1 transforming growth factor beta receptor 1 JBrowse link 1 240,842,735 240,918,267 RGD:7240710
G TGFBR2 transforming growth factor beta receptor 2 JBrowse link 13 16,784,370 16,875,828 RGD:9068941
Loeys-Dietz syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FBN1 fibrillin 1 JBrowse link 1 123,102,011 123,359,649 RGD:9068941
G TGFBR2 transforming growth factor beta receptor 2 JBrowse link 13 16,784,370 16,875,828 RGD:7240710
G TMPO thymopoietin JBrowse link 5 85,317,648 85,346,528 RGD:9068941
Loeys-Dietz syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SMAD3 SMAD family member 3 JBrowse link 1 164,998,457 165,124,455 RGD:7240710
G SMAD6 SMAD family member 6 JBrowse link 1 164,652,602 164,735,084 RGD:9068941
Loeys-Dietz syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BPNT1 3'(2'), 5'-bisphosphate nucleotidase 1 JBrowse link 10 9,659,876 9,684,115 RGD:9068941
G C10H1orf115 chromosome 10 C1orf115 homolog JBrowse link 10 10,115,917 10,127,722 RGD:9068941
G DUSP10 dual specificity phosphatase 10 JBrowse link 10 10,866,446 10,905,852 RGD:9068941
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 JBrowse link 10 9,579,301 9,648,416 RGD:9068941
G ESRRG estrogen related receptor gamma JBrowse link 10 6,710,615 7,371,419 RGD:9068941
G GPATCH2 G-patch domain containing 2 JBrowse link 10 7,615,121 7,797,227 RGD:9068941
G HLX H2.0 like homeobox JBrowse link 10 10,263,441 10,269,882 RGD:9068941
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial JBrowse link 10 9,685,641 9,739,816 RGD:9068941
G KCTD3 potassium channel tetramerization domain containing 3 JBrowse link 10 5,754,180 5,815,126 RGD:9068941
G LYPLAL1 lysophospholipase like 1 JBrowse link 10 8,946,463 9,061,033 RGD:9068941
G MARK1 microtubule affinity regulating kinase 1 JBrowse link 10 9,980,277 10,106,507 RGD:9068941
G MIR194B microRNA mir-194b JBrowse link 10 9,704,910 9,704,987 RGD:9068941
G MTARC1 mitochondrial amidoxime reducing component 1 JBrowse link 10 10,190,759 10,264,467 RGD:9068941
G MTARC2 mitochondrial amidoxime reducing component 2 JBrowse link 10 10,156,732 10,194,371 RGD:9068941
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 JBrowse link 10 9,734,766 9,828,330 RGD:9068941
G RRP15 ribosomal RNA processing 15 homolog JBrowse link 10 8,253,798 8,296,143 RGD:9068941
G SLC30A10 solute carrier family 30 member 10 JBrowse link 10 9,527,523 9,545,493 RGD:9068941
G SPATA17 spermatogenesis associated 17 JBrowse link 10 7,797,448 8,120,892 RGD:9068941
G TGFB2 transforming growth factor beta 2 JBrowse link 10 8,306,136 8,435,307 RGD:7240710
G TGFB3 transforming growth factor beta 3 JBrowse link 7 99,133,873 99,162,239 RGD:9068941
G USH2A usherin JBrowse link 10 5,825,591 6,662,733 RGD:9068941
Loeys-Dietz syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TGFB3 transforming growth factor beta 3 JBrowse link 7 99,133,873 99,162,239 RGD:7240710
Loeys-Dietz Syndrome, Type 1b term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TGFBR2 transforming growth factor beta receptor 2 JBrowse link 13 16,784,370 16,875,828 RGD:9068941
G TMPO thymopoietin JBrowse link 5 85,317,648 85,346,528 RGD:9068941
long QT syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCB8 ATP binding cassette subfamily B member 8 JBrowse link 18 6,178,550 6,197,012 RGD:9068941
G ABCC9 ATP binding cassette subfamily C member 9 JBrowse link 5 51,536,531 51,673,583 RGD:9068941
G ABCF1 ATP binding cassette subfamily F member 1 JBrowse link 7 23,126,255 23,144,030 RGD:9068941
G ABCF2 ATP binding cassette subfamily F member 2 JBrowse link 18 5,995,018 6,016,915 RGD:9068941
G ACSS2 acyl-CoA synthetase short chain family member 2 JBrowse link 17 38,260,152 38,315,764 RGD:9068941
G ACTL10 actin like 10 JBrowse link 17 37,166,995 37,170,763 RGD:9068941
G ACTN2 actinin alpha 2 JBrowse link 14 54,670,727 54,742,717 RGD:9068941
G AGAP3 ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 JBrowse link 18 6,081,680 6,145,115 RGD:9068941
G AHCY adenosylhomocysteinase JBrowse link 17 37,726,084 37,744,378 RGD:9068941
G AKAP8 A-kinase anchoring protein 8 JBrowse link 2 62,222,060 62,241,631 RGD:9068941
G AKAP9 A-kinase anchoring protein 9 JBrowse link 9 71,895,615 72,054,898 RGD:9068941
G ANK2 ankyrin 2 JBrowse link 8 109,306,793 109,661,970 RGD:9068941
G ANKIB1 ankyrin repeat and IBR domain containing 1 JBrowse link 9 72,184,805 72,328,765 RGD:9068941
G ANKRD1 ankyrin repeat domain 1 JBrowse link 14 102,603,777 102,612,857 RGD:9068941
G ANKRD31 ankyrin repeat domain 31 JBrowse link 2 84,148,363 84,320,823 RGD:9068941
G AOC1 amine oxidase copper containing 1 JBrowse link 18 6,309,583 6,321,016 RGD:9068941
G ARHGAP22 Rho GTPase activating protein 22 JBrowse link 14 89,113,774 89,331,629 RGD:9068941
G ARL13B ADP ribosylation factor like GTPase 13B JBrowse link 13 165,829,772 165,910,959 RGD:9068941
G ARVCF ARVCF delta catenin family member JBrowse link 14 51,403,215 51,440,036 RGD:9068941
G ASB10 ankyrin repeat and SOCS box containing 10 JBrowse link 18 6,039,253 6,050,335 RGD:9068941
G ASIC3 acid sensing ion channel subunit 3 JBrowse link 18 6,172,410 6,180,440 RGD:9068941
G ASIP agouti signaling protein JBrowse link 17 37,542,615 37,718,787 RGD:9068941
G ATG9B autophagy related 9B JBrowse link 18 6,200,246 6,208,988 RGD:9068941
G ATL3 atlastin GTPase 3 JBrowse link 2 8,361,579 8,408,920 RGD:9068941
G BAIAP3 BAI1 associated protein 3 JBrowse link 3 40,536,557 40,550,508 RGD:9068941
G C4H1orf226 chromosome 4 C1orf226 homolog JBrowse link 4 88,129,231 88,471,741 RGD:9068941
G CACNA1C calcium voltage-gated channel subunit alpha1 C JBrowse link 5 69,016,954 69,448,428 RGD:9068941
G CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 JBrowse link 9 97,781,057 98,265,925 RGD:9068941
G CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 JBrowse link 10 44,321,954 44,887,410 RGD:9068941
G CAV3 caveolin 3 JBrowse link 13 65,117,868 65,130,886 RGD:9068941
G CBFA2T2 CBFA2/RUNX1 partner transcriptional co-repressor 2 JBrowse link 17 36,990,075 37,150,390 RGD:9068941
G CCN3 cellular communication network factor 3 JBrowse link 4 19,505,698 19,514,481 RGD:9068941
G CD276 CD276 molecule JBrowse link 7 59,703,283 59,733,910 RGD:9068941
G CDK5 cyclin dependent kinase 5 JBrowse link 18 6,166,914 6,171,157 RGD:9068941
G CHMP4B charged multivesicular body protein 4B JBrowse link 17 37,285,422 37,334,103 RGD:9068941
G CIT citron rho-interacting serine/threonine kinase JBrowse link 14 33,009,828 33,195,985 RGD:9068941
G CRYGN crystallin gamma N JBrowse link 18 5,840,024 5,848,163 RGD:9068941
G CSRP3 cysteine and glycine rich protein 3 JBrowse link 2 40,219,288 40,240,614 RGD:9068941
G CTNNA3 catenin alpha 3 JBrowse link 14 69,195,231 70,974,543 RGD:9068941
G CTRL chymotrypsin like JBrowse link 6 28,540,187 28,542,820 RGD:9068941
G CYP1A1 cytochrome P450 1A1 JBrowse link 7 58,802,887 58,809,155 RGD:9068941
G CYP51 cytochrome P450, family 51, subfamily A, polypeptide 1 JBrowse link 9 72,057,506 72,079,587 RGD:9068941
G DIP2A disco interacting protein 2 homolog A RGD:9068941
G DMD dystrophin JBrowse link X 27,028,223 29,650,728 RGD:9068941
G DNA2 DNA replication helicase/nuclease 2 JBrowse link 14 71,550,405 71,607,067 RGD:9068941
G DSC2 desmocollin 2 JBrowse link 6 114,982,259 115,021,332 RGD:9068941
G DSG2 desmoglein 2 JBrowse link 6 115,400,223 115,453,763 RGD:9068941
G DSP desmoplakin JBrowse link 7 4,862,649 4,915,626 RGD:9068941
G DYNLRB1 dynein light chain roadblock-type 1 JBrowse link 17 37,923,451 37,941,851 RGD:9068941
G E2F1 E2F transcription factor 1 JBrowse link 17 37,178,587 37,190,118 RGD:9068941
G EDEM2 ER degradation enhancing alpha-mannosidase like protein 2 JBrowse link 17 38,483,190 38,515,243 RGD:9068941
G EIF2S2 eukaryotic translation initiation factor 2 subunit beta JBrowse link 17 37,551,182 37,570,269 RGD:9068941
G ELMOD2 ELMO domain containing 2 JBrowse link 8 86,527,970 86,546,652 RGD:9068941
G ERAP1 endoplasmic reticulum aminopeptidase 1 JBrowse link 2 103,378,428 103,415,066 RGD:9068941
G FASTK Fas activated serine/threonine kinase JBrowse link 18 6,145,189 6,149,367 RGD:9068941
G FGF2 fibroblast growth factor 2 JBrowse link 8 101,278,877 101,344,084 RGD:9068941
G FSIP2 fibrous sheath interacting protein 2 JBrowse link 15 90,902,067 91,000,873 RGD:9068941
G GAA glucosidase alpha, acid JBrowse link 12 2,315,807 2,339,867 RGD:9068941
G GATAD1 GATA zinc finger domain containing 1 JBrowse link 9 72,360,321 72,370,064 RGD:9068941
G GBX1 gastrulation brain homeobox 1 JBrowse link 18 6,058,888 6,080,908 RGD:9068941
G GGT7 gamma-glutamyltransferase 7 JBrowse link 17 38,231,083 38,255,915 RGD:9068941
G GIMAP2 GTPase, IMAP family member 2 JBrowse link 18 6,395,809 6,401,076 RGD:9068941
G GIMAP4 GTPase, IMAP family member 4 JBrowse link 18 6,429,886 6,452,963 RGD:9068941
G GIMAP5 GTPase, IMAP family member 5 JBrowse link 18 6,363,443 6,371,725 RGD:9068941
G GIMAP6 GTPase, IMAP family member 6 JBrowse link 18 6,414,771 6,420,765 RGD:9068941
G GIMAP7 GTPase, IMAP family member 7 JBrowse link 18 6,447,205 6,452,975 RGD:9068941
G GIMAP8 GTPase, IMAP family member 8 JBrowse link 18 6,481,080 6,495,397 RGD:9068941
G GPATCH2 G-patch domain containing 2 JBrowse link 10 7,615,121 7,797,227 RGD:9068941
G GPD1L glycerol-3-phosphate dehydrogenase 1 like JBrowse link 13 18,126,471 18,176,669 RGD:9068941
G GSS glutathione synthetase JBrowse link 17 38,316,199 38,342,253 RGD:9068941
G GUF1 GUF1 homolog, GTPase JBrowse link 8 35,167,615 35,190,587 RGD:9068941
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 JBrowse link 7 60,010,396 60,052,258 RGD:9068941
G HK3 hexokinase 3 JBrowse link 2 81,042,401 81,060,832 RGD:9068941
G HKDC1 hexokinase domain containing 1 JBrowse link 14 72,285,941 72,343,990 RGD:9068941
G HNRNPM heterogeneous nuclear ribonucleoprotein M JBrowse link 2 70,813,745 70,858,903 RGD:9068941
G ILK integrin linked kinase JBrowse link 9 3,145,647 3,152,097 RGD:9068941
G INTS8 integrator complex subunit 8 JBrowse link 4 41,820,718 41,878,857 RGD:9068941
G ITCH itchy E3 ubiquitin protein ligase JBrowse link 17 37,810,113 37,918,963 RGD:9068941
G JPH2 junctophilin 2 JBrowse link 17 46,590,302 46,665,326 RGD:9068941
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 JBrowse link 13 198,051,281 198,059,444 RGD:9068941
G KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 JBrowse link 13 197,979,749 197,980,974 RGD:9068941
G KCNH2 potassium voltage-gated channel subfamily H member 2 JBrowse link 18 6,242,826 6,279,154 RGD:9068941
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 JBrowse link 12 10,351,959 10,380,631 RGD:9068941
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 JBrowse link 9 55,836,777 55,861,288 RGD:9068941
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 JBrowse link 2 1,675,323 1,989,110 RGD:9068941
G KIF11 kinesin family member 11 JBrowse link 14 104,125,839 104,177,381 RGD:9068941
G KIF21B kinesin family member 21B JBrowse link 10 23,444,997 23,491,081 RGD:9068941
G KRIT1 KRIT1 ankyrin repeat containing JBrowse link 9 72,143,652 72,184,774 RGD:9068941
G LAMA4 laminin subunit alpha 4 JBrowse link 1 78,071,990 78,224,564 RGD:9068941
G LHFPL4 LHFPL tetraspan subfamily member 4 JBrowse link 13 65,867,124 65,920,887 RGD:9068941
G LMNA lamin A/C JBrowse link 4 93,899,019 93,927,255 RGD:9068941
G LOC100519177 GTPase IMAP family member 1 JBrowse link 18 6,457,532 6,462,776 RGD:9068941
G LOC100524391 putative methyltransferase NSUN6 JBrowse link 10 44,884,179 44,958,024 RGD:9068941
G LOC102159820 cadherin EGF LAG seven-pass G-type receptor 1 JBrowse link 5 3,114,410 3,203,378 RGD:9068941
G LRBA LPS responsive beige-like anchor protein JBrowse link 8 77,970,087 78,680,307 RGD:9068941
G LRRC8E leucine rich repeat containing 8 VRAC subunit E JBrowse link 2 71,309,404 71,318,225 RGD:9068941
G LRRD1 leucine rich repeats and death domain containing 1 JBrowse link 9 72,094,221 72,142,939 RGD:9068941
G MAP1LC3A microtubule associated protein 1 light chain 3 alpha JBrowse link 17 37,957,830 37,959,505 RGD:9068941
G MDN1 midasin AAA ATPase 1 JBrowse link 1 57,660,222 57,826,362 RGD:9068941
G MIR671 microRNA mir-671 JBrowse link 18 5,989,378 5,989,457 RGD:9068941
G MKI67 marker of proliferation Ki-67 JBrowse link 14 137,266,622 137,296,312 RGD:9068941
G MTMR14 myotubularin related protein 14 JBrowse link 13 65,948,520 65,994,231 RGD:9068941
G MYBPC3 myosin binding protein C3 JBrowse link 2 15,247,679 15,269,714 RGD:9068941
G MYBPHL myosin binding protein H like JBrowse link 4 110,792,628 110,809,479 RGD:9068941
G MYH7 myosin heavy chain 7 JBrowse link 7 75,650,841 75,672,908 RGD:9068941
G MYH7B myosin heavy chain 7B JBrowse link 17 38,362,158 38,385,680 RGD:9068941
G MYLK4 myosin light chain kinase family member 4 JBrowse link 7 1,567,816 1,656,230 RGD:9068941
G MYPN myopalladin JBrowse link 14 71,283,271 71,388,591 RGD:9068941
G NCOA6 nuclear receptor coactivator 6 JBrowse link 17 38,114,284 38,221,904 RGD:9068941
G NEBL nebulette JBrowse link 10 53,602,929 53,957,869 RGD:9068941
G NECAB3 N-terminal EF-hand calcium binding protein 3 JBrowse link 17 37,160,431 37,177,272 RGD:9068941
G NET1 neuroepithelial cell transforming 1 JBrowse link 10 65,428,013 65,438,346 RGD:9068941
G NLRP13 NLR family pyrin domain containing 13 JBrowse link 6 60,283,998 60,346,869 RGD:9068941
G NLRX1 NLR family member X1 JBrowse link 9 46,384,373 46,400,752 RGD:9068941
G NOS3 nitric oxide synthase 3 JBrowse link 18 6,209,218 6,228,912 RGD:9068941
G NR5A2 nuclear receptor subfamily 5 group A member 2 JBrowse link 10 22,727,865 22,866,905 RGD:9068941
G NRIP1 nuclear receptor interacting protein 1 JBrowse link 13 179,822,731 179,916,226 RGD:9068941
G NUB1 negative regulator of ubiquitin like proteins 1 JBrowse link 18 5,899,566 5,928,981 RGD:9068941
G OXTR oxytocin receptor JBrowse link 13 65,134,055 65,155,543 RGD:9068941
G PI4KA phosphatidylinositol 4-kinase alpha JBrowse link 14 50,390,416 50,491,983 RGD:9068941
G PIGU phosphatidylinositol glycan anchor biosynthesis class U JBrowse link 17 37,959,703 38,081,110 RGD:9068941
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma JBrowse link 9 106,698,200 106,748,217 RGD:9068941
G PKD1L2 polycystin 1 like 2 JBrowse link 6 7,065,143 7,166,620 RGD:9068941
G PLCB4 phospholipase C beta 4 JBrowse link 17 17,915,984 18,402,540 RGD:9068941
G POLRMT RNA polymerase mitochondrial JBrowse link 2 77,694,271 77,708,099 RGD:9068941
G POMC proopiomelanocortin JBrowse link 3 113,661,712 113,668,558 RGD:9068941
G PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 JBrowse link 18 5,475,077 5,744,761 RGD:9068941
G PROCR protein C receptor JBrowse link 17 38,532,530 38,537,397 RGD:9068941
G PROKR1 prokineticin receptor 1 JBrowse link 3 73,689,583 73,711,410 RGD:9068941
G PRSS12 serine protease 12 JBrowse link 8 105,121,529 105,197,142 RGD:9068941
G PRSS57 serine protease 57 JBrowse link 2 77,649,741 77,657,627 RGD:9068941
G PTEN phosphatase and tensin homolog JBrowse link 14 99,929,590 100,021,619 RGD:9068941
G PTOV1 PTOV1 extended AT-hook containing adaptor protein JBrowse link 6 54,865,591 54,873,751 RGD:9068941
G PXMP4 peroxisomal membrane protein 4 JBrowse link 17 37,194,130 37,218,250 RGD:9068941
G RAD18 RAD18 E3 ubiquitin protein ligase JBrowse link 13 65,253,416 65,359,506 RGD:9068941
G RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 JBrowse link 7 64,140,977 64,372,683 RGD:9068941
G RALY RALY heterogeneous nuclear ribonucleoprotein JBrowse link 17 37,447,827 37,542,461 RGD:9068941
G RBM20 RNA binding motif protein 20 JBrowse link 14 121,058,896 121,269,824 RGD:9068941
G REM1 RRAD and GEM like GTPase 1 JBrowse link 17 35,208,344 35,218,771 RGD:9068941
G REPIN1 replication initiator 1 JBrowse link 18 55,925,529 55,930,698 RGD:9068941
G RHEB Ras homolog, mTORC1 binding JBrowse link 18 5,779,439 5,821,839 RGD:9068941
G RIMS1 regulating synaptic membrane exocytosis 1 JBrowse link 1 51,785,140 52,246,456 RGD:9068941
G RNF207 ring finger protein 207 JBrowse link 6 67,105,347 67,119,167 RGD:9068941
G RYR2 ryanodine receptor 2 JBrowse link 14 53,652,140 54,406,691 RGD:9068941
G SCN1B sodium voltage-gated channel beta subunit 1 JBrowse link 6 44,597,461 44,607,488 RGD:9068941
G SCN4B sodium voltage-gated channel beta subunit 4 JBrowse link 9 45,451,473 45,475,606 RGD:9068941
G SCN5A sodium voltage-gated channel alpha subunit 5 JBrowse link 13 23,336,143 23,424,755 RGD:9068941
G SDC1 syndecan 1 JBrowse link 3 117,987,585 118,011,886 RGD:9068941
G SETD5 SET domain containing 5 JBrowse link 13 65,759,973 65,851,747 RGD:9068941
G SHANK3 SH3 and multiple ankyrin repeat domains 3 JBrowse link 5 41,376 93,033 RGD:9068941
G SIDT1 SID1 transmembrane family member 1 JBrowse link 13 146,300,172 146,396,552 RGD:9068941
G SIRT6 sirtuin 6 JBrowse link 2 74,568,539 74,577,774 RGD:9068941
G SLC2A5 solute carrier family 2 member 5 JBrowse link 6 69,507,829 69,535,794 RGD:9068941
G SLC4A2 solute carrier family 4 member 2 JBrowse link 18 6,149,459 6,166,622 RGD:9068941
G SLC6A17 solute carrier family 6 member 17 JBrowse link 4 109,919,153 109,974,235 RGD:9068941
G SMARCD3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 JBrowse link 18 5,958,466 5,989,120 RGD:9068941
G SMIM11A small integral membrane protein 11A JBrowse link 13 197,985,268 197,998,289 RGD:9068941
G SNAPC4 small nuclear RNA activating complex polypeptide 4 RGD:9068941
G SNAPC5 small nuclear RNA activating complex polypeptide 5 JBrowse link 1 164,459,111 164,475,053 RGD:9068941
G SND1 staphylococcal nuclease and tudor domain containing 1 JBrowse link 18 20,261,473 20,653,621 RGD:9068941
G SNTA1 syntrophin alpha 1 JBrowse link 17 36,917,276 36,946,232 RGD:9068941
G SRGAP3 SLIT-ROBO Rho GTPase activating protein 3 JBrowse link 13 65,367,596 65,759,892 RGD:9068941
G SSUH2 ssu-2 homolog JBrowse link 13 65,041,193 65,066,367 RGD:9068941
G STK32B serine/threonine kinase 32B JBrowse link 8 5,056,816 5,418,326 RGD:9068941
G SYK spleen associated tyrosine kinase JBrowse link 14 2,103,706 2,160,886 RGD:9068941
G TAF10 TATA-box binding protein associated factor 10 JBrowse link 9 3,144,262 3,145,702 RGD:9068941
G TCAP titin-cap JBrowse link 12 22,651,666 22,652,904 RGD:9068941
G TCTN3 tectonic family member 3 JBrowse link 14 107,230,820 107,263,364 RGD:9068941
G TDRD6 tudor domain containing 6 JBrowse link 7 41,468,589 41,485,146 RGD:9068941
G TECRL trans-2,3-enoyl-CoA reductase like JBrowse link 8 62,542,452 62,646,084 RGD:9068941
G TGFBRAP1 transforming growth factor beta receptor associated protein 1 JBrowse link 3 49,469,898 49,521,879 RGD:9068941
G THUMPD3 THUMP domain containing 3 JBrowse link 13 65,720,556 65,747,989 RGD:9068941
G TLNRD1 talin rod domain containing 1 JBrowse link 7 49,833,640 49,835,735 RGD:9068941
G TMEM176A transmembrane protein 176A JBrowse link 18 6,337,835 6,342,603 RGD:9068941
G TMEM176B transmembrane protein 176B JBrowse link 18 6,334,420 6,348,887 RGD:9068941
G TMEM43 transmembrane protein 43 JBrowse link 13 70,397,069 70,417,213 RGD:9068941
G TMUB1 transmembrane and ubiquitin like domain containing 1 JBrowse link 18 6,142,451 6,144,895 RGD:9068941
G TNFRSF6B TNF receptor superfamily member 6b JBrowse link 17 62,635,024 62,637,520 RGD:9068941
G TOP2A DNA topoisomerase II alpha JBrowse link 12 22,001,300 22,028,452 RGD:9068941
G TP53INP2 tumor protein p53 inducible nuclear protein 2 JBrowse link 17 38,104,189 38,113,167 RGD:9068941
G TPM1 tropomyosin 1 JBrowse link 1 108,986,981 109,016,090 RGD:9068941
G TRHDE thyrotropin releasing hormone degrading enzyme JBrowse link 5 36,266,883 36,663,208 RGD:9068941
G TRMU tRNA mitochondrial 2-thiouridylase JBrowse link 5 3,208,122 3,224,382 RGD:9068941
G TRPC4AP transient receptor potential cation channel subfamily C member 4 associated protein JBrowse link 17 38,385,650 38,468,290 RGD:9068941
G TRPM4 transient receptor potential cation channel subfamily M member 4 JBrowse link 6 54,342,774 54,377,557 RGD:9068941
G TTN titin JBrowse link 15 84,226,953 84,501,320 RGD:9068941
G UBR4 ubiquitin protein ligase E3 component n-recognin 4 JBrowse link 6 77,568,409 77,707,991 RGD:9068941
G UBR5 ubiquitin protein ligase E3 component n-recognin 5 JBrowse link 4 34,645,794 34,794,510 RGD:9068941
G UBR7 ubiquitin protein ligase E3 component n-recognin 7 JBrowse link 7 114,590,920 114,609,867 RGD:9068941
G UPP1 uridine phosphorylase 1 JBrowse link 18 48,418,385 48,440,414 RGD:9068941
G USP19 ubiquitin specific peptidase 19 JBrowse link 13 31,726,668 31,738,135 RGD:9068941
G VCL vinculin JBrowse link 14 76,700,143 76,811,875 RGD:9068941
G VSX1 visual system homeobox 1 JBrowse link 17 30,848,497 30,856,014 RGD:9068941
G WDR25 WD repeat domain 25 JBrowse link 7 121,238,199 121,384,294 RGD:9068941
G WDR26 WD repeat domain 26 JBrowse link 10 12,713,528 12,756,713 RGD:9068941
G WDR86 WD repeat domain 86 JBrowse link 18 5,853,099 5,900,824 RGD:9068941
G WWC2 WW and C2 domain containing 2 JBrowse link 15 44,615,731 44,802,717 RGD:9068941
G YME1L1 YME1 like 1 ATPase JBrowse link 10 48,807,654 48,855,228 RGD:9068941
G ZNF174 zinc finger protein 174 JBrowse link 3 38,805,861 38,815,166 RGD:9068941
G ZNF341 zinc finger protein 341 JBrowse link 17 37,223,959 37,272,263 RGD:9068941
G ZNF775 zinc finger protein 775 JBrowse link 18 55,932,337 55,954,153 RGD:9068941
G ZNF862 zinc finger protein 862 JBrowse link 18 55,842,970 55,883,476 RGD:9068941
long QT syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AKAP9 A-kinase anchoring protein 9 JBrowse link 9 71,895,615 72,054,898 RGD:9068941
G CALM2 calmodulin 2 JBrowse link 3 93,371,765 93,386,378 RGD:9068941
G CALM3 calmodulin 3 JBrowse link 6 52,506,979 52,516,704 RGD:9068941
G CAV3 caveolin 3 JBrowse link 13 65,117,868 65,130,886 RGD:9068941
G DSP desmoplakin JBrowse link 7 4,862,649 4,915,626 RGD:9068941
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 JBrowse link 13 198,051,281 198,059,444 RGD:9068941
G KCNH2 potassium voltage-gated channel subfamily H member 2 JBrowse link 18 6,242,826 6,279,154 RGD:9068941
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 JBrowse link 9 55,836,777 55,861,288 RGD:9068941
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 JBrowse link 2 1,675,323 1,989,110 RGD:7240710
G SCN4B sodium voltage-gated channel beta subunit 4 JBrowse link 9 45,451,473 45,475,606 RGD:9068941
G SCN5A sodium voltage-gated channel alpha subunit 5 JBrowse link 13 23,336,143 23,424,755 RGD:9068941
G SNTA1 syntrophin alpha 1 JBrowse link 17 36,917,276 36,946,232 RGD:9068941
G SSUH2 ssu-2 homolog JBrowse link 13 65,041,193 65,066,367 RGD:9068941
Long QT Syndrome 1/2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KCNH2 potassium voltage-gated channel subfamily H member 2 JBrowse link 18 6,242,826 6,279,154 RGD:9068941
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 JBrowse link 2 1,675,323 1,989,110 RGD:9068941
long QT syndrome 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCG4 ATP binding cassette subfamily G member 4 JBrowse link 9 46,364,546 46,380,545 RGD:9068941
G ARCN1 archain 1 JBrowse link 9 45,863,772 45,897,525 RGD:9068941
G ATP5MG ATP synthase membrane subunit g JBrowse link 9 45,706,449 45,716,541 RGD:9068941
G BCL9L BCL9 like JBrowse link 9 46,146,519 46,175,052 RGD:9068941
G C2CD2L C2CD2 like JBrowse link 9 46,321,761 46,331,078 RGD:9068941
G CBL Cbl proto-oncogene JBrowse link 9 46,416,937 46,512,855 RGD:9068941
G CCDC153 coiled-coil domain containing 153 JBrowse link 9 46,406,085 46,412,449 RGD:9068941
G CD3D CD3d molecule JBrowse link 9 45,640,475 45,644,153 RGD:9068941
G CD3E CD3e molecule JBrowse link 9 45,619,730 45,633,972 RGD:9068941
G CD3G CD3g molecule JBrowse link 9 45,645,243 45,656,779 RGD:9068941
G CENATAC centrosomal AT-AC splicing factor JBrowse link 9 46,230,365 46,239,433 RGD:9068941
G CXCR5 C-X-C motif chemokine receptor 5 JBrowse link 9 46,134,243 46,146,638 RGD:9068941
G DDX6 DEAD-box helicase 6 JBrowse link 9 46,025,616 46,063,836 RGD:9068941
G DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 JBrowse link 9 46,308,824 46,316,905 RGD:9068941
G FOXR1 forkhead box R1 JBrowse link 9 46,208,750 46,220,076 RGD:9068941
G HINFP histone H4 transcription factor JBrowse link 9 46,336,130 46,354,623 RGD:9068941
G HMBS hydroxymethylbilane synthase JBrowse link 9 46,300,039 46,308,681 RGD:9068941
G HYOU1 hypoxia up-regulated 1 JBrowse link 9 46,264,929 46,277,056 RGD:9068941
G IFT46 intraflagellar transport 46 JBrowse link 9 45,844,636 45,861,918 RGD:9068941
G JAML junction adhesion molecule like JBrowse link 9 45,506,496 45,537,304 RGD:9068941
G KMT2A lysine methyltransferase 2A JBrowse link 9 45,743,566 45,828,559 RGD:9068941
G LOC100522201 histone H2AX JBrowse link 9 46,308,824 46,310,494 RGD:9068941
G MPZL2 myelin protein zero like 2 JBrowse link 9 45,566,365 45,578,168 RGD:9068941
G MPZL3 myelin protein zero like 3 JBrowse link 9 45,536,024 45,564,210 RGD:9068941
G NLRX1 NLR family member X1 JBrowse link 9 46,384,373 46,400,752 RGD:9068941
G PDZD3 PDZ domain containing 3 JBrowse link 9 46,401,377 46,409,804 RGD:9068941
G PHLDB1 pleckstrin homology like domain family B member 1 JBrowse link 9 45,902,099 45,949,415 RGD:9068941
G RPS25 ribosomal protein S25