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ONTOLOGY REPORT - ANNOTATIONS


Term:subvalvular aortic stenosis
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Accession:DOID:5805 term browser browse the term
Definition:A pathological constriction occurring in the region below the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA.
Synonyms:exact_synonym: Aortic Subvalvular Stenoses;   Subaortic stenosis
 primary_id: MESH:D001020;   RDO:0004491
 xref: GARD:5052;   NCI:C85172
For additional species annotation, visit the Alliance of Genome Resources.


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subvalvular aortic stenosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsp desmoplakin JBrowse link 17 27,286,811 27,334,453 RGD:8554872
G Pomc proopiomelanocortin JBrowse link 6 28,382,937 28,388,771 RGD:11554173
Apical Hypertrophic Cardiomyopathy and Neuropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 JBrowse link MT 7,919 8,599 RGD:8554872
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 JBrowse link MT 7,758 7,961 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 22 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myo6 myosin VI JBrowse link 8 87,583,649 87,731,271 RGD:7240710
RGD:8554872
dilated cardiomyopathy 1KK term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mybpc3 myosin binding protein C3 JBrowse link 3 79,940,509 79,958,731 RGD:8554872
G Mypn myopalladin JBrowse link 20 26,988,820 27,074,106 RGD:8554872
RGD:7240710
familial hypertrophic cardiomyopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc9 ATP binding cassette subfamily C member 9 JBrowse link 4 176,806,098 176,928,540 RGD:8554872
G Acadvl acyl-CoA dehydrogenase, very long chain JBrowse link 10 56,619,321 56,624,468 RGD:8554872
G Actc1 actin, alpha, cardiac muscle 1 JBrowse link 3 105,507,403 105,512,939 RGD:8554872
G Actn2 actinin alpha 2 JBrowse link 17 66,304,530 66,397,647 RGD:8554872
G Alpk3 alpha-kinase 3 JBrowse link 1 142,882,997 142,931,940 RGD:8554872
G Ankrd1 ankyrin repeat domain 1 JBrowse link 1 254,726,985 254,745,673 RGD:8554872
G Bag3 BAG cochaperone 3 JBrowse link 1 199,941,258 199,965,191 RGD:8554872
G Calm3 calmodulin 3 JBrowse link 1 78,844,520 78,851,628 RGD:13792494
G Calr3 calreticulin 3 JBrowse link 16 19,097,391 19,124,062 RGD:8554872
G Cav3 caveolin 3 JBrowse link 4 144,382,945 144,398,919 RGD:8554872
G Cep85l centrosomal protein 85-like JBrowse link 20 34,574,043 34,743,142 RGD:8554872
G Comt catechol-O-methyltransferase JBrowse link 11 86,715,981 86,735,630 RGD:8554872
G Cryab crystallin, alpha B JBrowse link 8 55,178,543 55,182,546 RGD:8554872
G Csrp3 cysteine and glycine rich protein 3 JBrowse link 1 104,147,205 104,166,389 RGD:8554872
G Ctf1 cardiotrophin 1 JBrowse link 1 199,162,319 199,168,296 RGD:8554872
G Ctnna3 catenin alpha 3 JBrowse link 20 25,063,124 26,640,428 RGD:8554872
G Des desmin JBrowse link 9 82,556,574 82,564,288 RGD:8554872
G Dlg4 discs large MAGUK scaffold protein 4 JBrowse link 10 56,625,845 56,655,543 RGD:8554872
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
G Dnaaf3 dynein, axonemal, assembly factor 3 JBrowse link 1 72,874,131 72,882,867 RGD:8554872
G Dsc2 desmocollin 2 JBrowse link 18 11,826,705 11,858,801 RGD:8554872
G Dsg2 desmoglein 2 JBrowse link 18 15,579,322 15,637,720 RGD:8554872
G Dsp desmoplakin JBrowse link 17 27,286,811 27,334,453 RGD:8554872
G Dtna dystrobrevin, alpha JBrowse link 18 14,544,725 14,671,514 RGD:8554872
G Emd emerin JBrowse link X 156,452,847 156,455,858 RGD:8554872
G Eya4 EYA transcriptional coactivator and phosphatase 4 JBrowse link 1 23,237,617 23,611,580 RGD:8554872
G Fhl1 four and a half LIM domains 1 JBrowse link X 159,112,516 159,172,528 RGD:8554872
G Fhl2 four and a half LIM domains 2 JBrowse link 9 49,920,611 49,994,906 RGD:8554872
G Flnc filamin C JBrowse link 4 56,710,934 56,738,779 RGD:8554872
G Gla galactosidase, alpha JBrowse link X 105,405,915 105,417,331 RGD:8554872
G Gpd1l glycerol-3-phosphate dehydrogenase 1-like JBrowse link 8 122,957,570 122,987,236 RGD:8554872
G Ilk integrin-linked kinase JBrowse link 1 170,578,941 170,585,192 RGD:8554872
G Jph2 junctophilin 2 JBrowse link 3 159,709,998 159,776,536 RGD:8554872
G Jup junction plakoglobin JBrowse link 10 88,280,517 88,307,451 RGD:8554872
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 JBrowse link 11 32,434,786 32,447,264 RGD:8554872
G Kcnh2 potassium voltage-gated channel subfamily H member 2 JBrowse link 4 7,355,066 7,387,282 RGD:8554872
G Lama4 laminin subunit alpha 4 JBrowse link 20 44,060,715 44,201,966 RGD:8554872
G Lamp2 lysosomal-associated membrane protein 2 JBrowse link X 124,722,628 124,766,079 RGD:8554872
G Ldb3 LIM domain binding 3 JBrowse link 16 10,878,348 10,943,016 RGD:8554872
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
G Mib1 mindbomb E3 ubiquitin protein ligase 1 JBrowse link 18 1,970,914 2,094,920 RGD:8554872
G Mybpc3 myosin binding protein C3 JBrowse link 3 79,940,509 79,958,731 RGD:1580239
RGD:8554872
RGD:11554173
RGD:1580237
RGD:1580234
RGD:1580238
G Myh6 myosin heavy chain 6 JBrowse link 15 33,605,653 33,629,730 RGD:8554872
RGD:11065341
RGD:11554173
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
RGD:11554173
G Myl2 myosin light chain 2 JBrowse link 12 39,951,863 39,959,065 RGD:8554872
RGD:11554173
RGD:1580241
RGD:1580240
G Myl3 myosin light chain 3 JBrowse link 8 119,030,852 119,036,996 RGD:8554872
G Myl9 myosin light chain 9 JBrowse link 3 152,857,573 152,863,961 RGD:1582589
G Mylk2 myosin light chain kinase 2 JBrowse link 3 148,386,185 148,397,851 RGD:8554872
G Myom1 myomesin 1 JBrowse link 9 119,353,840 119,469,196 RGD:8554872
G Myoz2 myozenin 2 JBrowse link 2 227,180,887 227,207,629 RGD:8554872
G Mypn myopalladin JBrowse link 20 26,988,820 27,074,106 RGD:8554872
G Nebl nebulette JBrowse link 17 84,141,014 84,247,038 RGD:8554872
G Nexn nexilin (F actin binding protein) JBrowse link 2 257,452,937 257,484,607 RGD:8554872
G Pdlim3 PDZ and LIM domain 3 JBrowse link 16 49,543,140 49,574,362 RGD:8554872
G Pkp2 plakophilin 2 JBrowse link 11 88,912,163 88,972,213 RGD:8554872
G Pln phospholamban JBrowse link 20 34,633,157 34,642,904 RGD:8554872
G Prdm16 PR/SET domain 16 JBrowse link 5 171,662,277 171,711,561 RGD:8554872
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 JBrowse link 4 6,559,153 6,799,888 RGD:8554872
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase JBrowse link 4 147,532,040 147,592,769 RGD:8554872
G Rbm20 RNA binding motif protein 20 JBrowse link 1 274,391,932 274,589,816 RGD:8554872
G Ryr2 ryanodine receptor 2 JBrowse link 17 65,533,998 65,955,606 RGD:8554872
G Scn5a sodium voltage-gated channel alpha subunit 5 JBrowse link 8 128,169,191 128,266,681 RGD:8554872
G Shoc2 SHOC2 leucine-rich repeat scaffold protein JBrowse link 1 274,700,621 274,751,195 RGD:8554872
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 JBrowse link 6 3,105,443 3,182,977 RGD:8554872
G Taf10 TATA-box binding protein associated factor 10 JBrowse link 1 170,585,160 170,586,428 RGD:8554872
G Taz tafazzin JBrowse link X 156,421,006 156,429,461 RGD:8554872
G Tcap titin-cap JBrowse link 10 86,337,705 86,338,414 RGD:8554872
G Tmem43 transmembrane protein 43 JBrowse link 4 123,118,468 123,133,610 RGD:8554872
G Tmpo thymopoietin JBrowse link 7 31,847,412 31,872,416 RGD:8554872
G Tnni3 troponin I3, cardiac type JBrowse link 1 72,882,806 72,886,490 RGD:8554872
RGD:11554173
G Tnnt1 troponin T1, slow skeletal type JBrowse link 1 72,889,270 72,899,629 RGD:8554872
G Tnnt2 troponin T2, cardiac type JBrowse link 13 52,662,974 52,680,992 RGD:1559062
RGD:8554872
RGD:11554173
G Tpm1 tropomyosin 1 JBrowse link 8 72,814,737 72,841,496 RGD:1580447
RGD:8554872
RGD:11554173
G Trim63 tripartite motif containing 63 JBrowse link 5 152,533,362 152,547,138 RGD:8554872
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
G Ttr transthyretin JBrowse link 18 15,532,963 15,542,180 RGD:8554872
G Txnrd2 thioredoxin reductase 2 JBrowse link 11 86,667,994 86,716,063 RGD:8554872
G Vcl vinculin JBrowse link 15 3,455,211 3,544,738 RGD:8554872
FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Calr3 calreticulin 3 JBrowse link 16 19,097,391 19,124,062 RGD:8554872
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ncaph2 non-SMC condensin II complex, subunit H2 JBrowse link 7 130,326,597 130,343,655 RGD:8554872
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coa5 cytochrome C oxidase assembly factor 5 JBrowse link 9 44,011,471 44,024,876 RGD:11554173
G Coa6 cytochrome c oxidase assembly factor 6 JBrowse link 19 59,327,328 59,333,706 RGD:11554173
G Cox15 cytochrome c oxidase assembly homolog COX15 JBrowse link 1 263,494,850 263,511,510 RGD:11554173
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cox15 cytochrome c oxidase assembly homolog COX15 JBrowse link 1 263,494,850 263,511,510 RGD:8554872
RGD:7240710
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coa5 cytochrome C oxidase assembly factor 5 JBrowse link 9 44,011,471 44,024,876 RGD:8554872
RGD:7240710
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coa6 cytochrome c oxidase assembly factor 6 JBrowse link 19 59,327,328 59,333,706 RGD:8554872
RGD:7240710
hypertrophic cardiomyopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc9 ATP binding cassette subfamily C member 9 JBrowse link 4 176,806,098 176,928,540 RGD:8554872
G Ace angiotensin I converting enzyme JBrowse link 10 94,170,766 94,213,831 RGD:1566491
G Acp2 acid phosphatase 2, lysosomal JBrowse link 3 80,020,346 80,030,365 RGD:8554872
G Actc1 actin, alpha, cardiac muscle 1 JBrowse link 3 105,507,403 105,512,939 RGD:8554872
G Actn2 actinin alpha 2 JBrowse link 17 66,304,530 66,397,647 RGD:8554872
G Adgrl4 adhesion G protein-coupled receptor L4 JBrowse link 2 256,609,787 256,724,642 RGD:13838662
G Adm adrenomedullin JBrowse link 1 175,443,189 175,447,260 RGD:1625294
G Agt angiotensinogen JBrowse link 19 57,321,594 57,333,460 RGD:1566491
RGD:13432163
G Akap6 A-kinase anchoring protein 6 JBrowse link 6 73,553,111 73,991,992 RGD:11251930
G Akap9 A-kinase anchoring protein 9 JBrowse link 4 27,195,346 27,331,582 RGD:8554872
G Alpk3 alpha-kinase 3 JBrowse link 1 142,882,997 142,931,940 RGD:8554872
G Ank2 ankyrin 2 JBrowse link 2 231,224,643 231,522,655 RGD:8554872
G Ankrd1 ankyrin repeat domain 1 JBrowse link 1 254,726,985 254,745,673 RGD:5133276
RGD:8554872
G Arfgap2 ADP-ribosylation factor GTPase activating protein 2 JBrowse link 3 80,081,541 80,093,659 RGD:8554872
G Bag3 BAG cochaperone 3 JBrowse link 1 199,941,258 199,965,191 RGD:8554872
G Bcl2 BCL2, apoptosis regulator JBrowse link 13 26,605,426 26,769,374 RGD:11558015
RGD:13792650
G Becn1 beclin 1 JBrowse link 10 89,209,944 89,225,297 RGD:11558015
G Braf B-Raf proto-oncogene, serine/threonine kinase JBrowse link 4 67,389,331 67,520,549 RGD:8554872
G Cacna1c calcium voltage-gated channel subunit alpha1 C JBrowse link 4 150,635,808 151,270,790 RGD:8554872
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 JBrowse link 17 81,673,862 82,019,219 RGD:13513985
RGD:8554872
G Calr3 calreticulin 3 JBrowse link 16 19,097,391 19,124,062 RGD:8554872
G Capn2 calpain 2 JBrowse link 13 100,878,649 100,928,811 RGD:13792650
G Casp3 caspase 3 JBrowse link 16 48,845,011 48,863,249 RGD:2293330
G Cav1 caveolin 1 JBrowse link 4 44,597,123 44,630,206 RGD:13592920
G Cav3 caveolin 3 JBrowse link 4 144,382,945 144,398,919 RGD:8554872
RGD:13592920
G Cd36 CD36 molecule JBrowse link 4 14,150,309 14,191,498 RGD:2307222
G Cep85l centrosomal protein 85-like JBrowse link 20 34,574,043 34,743,142 RGD:8554872
G Cma1 chymase 1 JBrowse link 15 34,601,037 34,603,819 RGD:5128572
G Cox15 cytochrome c oxidase assembly homolog COX15 JBrowse link 1 263,494,850 263,511,510 RGD:1598468
G Cryab crystallin, alpha B JBrowse link 8 55,178,543 55,182,546 RGD:8554872
G Csrp3 cysteine and glycine rich protein 3 JBrowse link 1 104,147,205 104,166,389 RGD:1598499
RGD:8554872
G Ctf1 cardiotrophin 1 JBrowse link 1 199,162,319 199,168,296 RGD:8554872
G Ctnnb1 catenin beta 1 JBrowse link 8 129,601,511 129,628,378 RGD:1598718
G Ctsl cathepsin L JBrowse link 17 1,873,105 1,879,266 RGD:2315555
G Ddb2 damage specific DNA binding protein 2 JBrowse link 3 80,030,437 80,052,984 RGD:8554872
G Des desmin JBrowse link 9 82,556,574 82,564,288 RGD:13525010
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
G Dnaaf3 dynein, axonemal, assembly factor 3 JBrowse link 1 72,874,131 72,882,867 RGD:8554872
G Dsc2 desmocollin 2 JBrowse link 18 11,826,705 11,858,801 RGD:8554872
G Dsg2 desmoglein 2 JBrowse link 18 15,579,322 15,637,720 RGD:8554872
G Dsp desmoplakin JBrowse link 17 27,286,811 27,334,453 RGD:1580892
RGD:8554872
G Dtna dystrobrevin, alpha JBrowse link 18 14,544,725 14,671,514 RGD:8554872
G Edn1 endothelin 1 JBrowse link 17 22,136,814 22,143,745 RGD:2302065
G Eya4 EYA transcriptional coactivator and phosphatase 4 JBrowse link 1 23,237,617 23,611,580 RGD:8554872
G Fasn fatty acid synthase JBrowse link 10 109,987,735 110,005,901 RGD:11554173
G Fhl1 four and a half LIM domains 1 JBrowse link X 159,112,516 159,172,528 RGD:1580798
RGD:8554872
G Fktn fukutin JBrowse link 5 70,522,001 70,578,270 RGD:8554872
G Flnc filamin C JBrowse link 4 56,710,934 56,738,779 RGD:8554872
G Fxn frataxin JBrowse link 1 242,123,975 242,152,834 RGD:8554872
G Gaa glucosidase, alpha, acid JBrowse link 10 108,395,873 108,412,999 RGD:11554173
RGD:8554872
G Gja5 gap junction protein, alpha 5 JBrowse link 2 199,162,745 199,184,942 RGD:8554872
G Gla galactosidase, alpha JBrowse link X 105,405,915 105,417,331 RGD:8554872
G Gpd1l glycerol-3-phosphate dehydrogenase 1-like JBrowse link 8 122,957,570 122,987,236 RGD:8554872
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 JBrowse link 8 63,599,907 63,637,327 RGD:8554872
G Hey2 hes-related family bHLH transcription factor with YRPW motif 2 JBrowse link 1 29,191,170 29,201,257 RGD:11554173
G Hspb1 heat shock protein family B (small) member 1 JBrowse link 12 23,839,390 23,841,051 RGD:11554173
G Hspd1 heat shock protein family D (Hsp60) member 1 JBrowse link 9 61,680,529 61,691,202 RGD:11554173
G Htr2b 5-hydroxytryptamine receptor 2B JBrowse link 9 93,112,781 93,130,135 RGD:13592920
G Icam1 intercellular adhesion molecule 1 JBrowse link 8 22,035,287 22,047,049 RGD:4145536
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 JBrowse link 1 141,874,354 141,893,674 RGD:11554173
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:1598422
G Igf1r insulin-like growth factor 1 receptor JBrowse link 1 128,924,921 129,213,816 RGD:2311505
G Ins2 insulin 2 JBrowse link 1 215,856,967 215,858,034 RGD:11554173
G Jph2 junctophilin 2 JBrowse link 3 159,709,998 159,776,536 RGD:1580652
RGD:8554872
RGD:6480270
G Jup junction plakoglobin JBrowse link 10 88,280,517 88,307,451 RGD:8554872
G Kat8 lysine acetyltransferase 8 JBrowse link 1 199,360,645 199,372,925 RGD:11554173
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 JBrowse link 11 32,498,260 32,511,202 RGD:8554872
G Kcnh2 potassium voltage-gated channel subfamily H member 2 JBrowse link 4 7,355,066 7,387,282 RGD:8554872
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 JBrowse link 10 99,429,337 99,442,520 RGD:8554872
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 JBrowse link 8 33,435,493 33,463,410 RGD:8554872
G Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 JBrowse link 4 176,783,287 176,789,143 RGD:8554872
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 JBrowse link 1 216,293,087 216,630,339 RGD:8554872
G Klhl41 kelch-like family member 41 JBrowse link 3 55,910,177 55,923,303 RGD:1580798
G Lama4 laminin subunit alpha 4 JBrowse link 20 44,060,715 44,201,966 RGD:8554872
G Lamp2 lysosomal-associated membrane protein 2 JBrowse link X 124,722,628 124,766,079 RGD:1580822
RGD:8554872
RGD:13703117
RGD:1580826
G Lamp2em1 lysosomal-associated membrane protein 2; TALEN induced mutant1 RGD:13703117
G Ldb3 LIM domain binding 3 JBrowse link 16 10,878,348 10,943,016 RGD:8554872
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
G Lrp4 LDL receptor related protein 4 JBrowse link 3 80,362,643 80,416,684 RGD:8554872
G Madd MAP-kinase activating death domain JBrowse link 3 79,960,301 80,003,023 RGD:8554872
G Map1lc3a microtubule-associated protein 1 light chain 3 alpha JBrowse link 3 150,801,289 150,802,935 RGD:11558015
G Map2k2 mitogen activated protein kinase kinase 2 JBrowse link 7 11,458,971 11,478,520 RGD:8554872
G Mir208b microRNA 208b JBrowse link 15 33,639,510 33,639,621 RGD:8554872
G Mir451a microRNA 451a JBrowse link 10 65,291,204 65,291,275 RGD:11558015
G Mmp1 matrix metallopeptidase 1 JBrowse link 8 5,703,206 5,723,593 RGD:1582538
G Mmp2 matrix metallopeptidase 2 JBrowse link 19 15,542,771 15,570,589 RGD:5130889
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:5130889
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 JBrowse link MT 7,919 8,599 RGD:8554872
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 JBrowse link MT 7,758 7,961 RGD:8554872
G Mtpn myotrophin JBrowse link 4 63,012,009 63,039,422 RGD:13592920
G Mybpc3 myosin binding protein C3 JBrowse link 3 79,940,509 79,958,731 RGD:1580235
RGD:8554872
RGD:11554173
RGD:1580233
G Myc MYC proto-oncogene, bHLH transcription factor JBrowse link 7 102,586,313 102,591,240 RGD:11554173
G Myh6 myosin heavy chain 6 JBrowse link 15 33,605,653 33,629,730 RGD:8554872
RGD:11554173
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:1580926
RGD:8554872
RGD:11554173
RGD:11065270
RGD:1580929
G Myl2 myosin light chain 2 JBrowse link 12 39,951,863 39,959,065 RGD:8554872
RGD:11554173
G Myl3 myosin light chain 3 JBrowse link 8 119,030,852 119,036,996 RGD:8554872
G Myl4 myosin, light chain 4 JBrowse link 10 92,628,356 92,638,100 RGD:11554173
G Myl7 myosin light chain 7 JBrowse link 14 86,144,770 86,147,075 RGD:11554173
G Mylk2 myosin light chain kinase 2 JBrowse link 3 148,386,185 148,397,851 RGD:8554872
G Myom1 myomesin 1 JBrowse link 9 119,353,840 119,469,196 RGD:8554872
G Myoz2 myozenin 2 JBrowse link 2 227,180,887 227,207,629 RGD:8554872
G Mypn myopalladin JBrowse link 20 26,988,820 27,074,106 RGD:8554872
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 JBrowse link 9 69,919,863 69,953,182 RGD:11554173
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 JBrowse link 13 89,606,848 89,623,506 RGD:1600573
G Nebl nebulette JBrowse link 17 84,141,014 84,247,038 RGD:8554872
G Nexn nexilin (F actin binding protein) JBrowse link 2 257,452,937 257,484,607 RGD:8554872
G Nkx2-5 NK2 homeobox 5 JBrowse link 10 16,635,989 16,638,758 RGD:8554872
G Nme1 NME/NM23 nucleoside diphosphate kinase 1 JBrowse link 10 81,657,152 81,666,542 RGD:11554173
G Nmnat2 nicotinamide nucleotide adenylyltransferase 2 JBrowse link 13 70,379,346 70,559,311 RGD:13782043
G Npm1 nucleophosmin 1 JBrowse link 10 18,080,949 18,091,062 RGD:11535018
G Nppa natriuretic peptide A JBrowse link 5 164,808,407 164,809,716 RGD:13792650
G Nr1h3 nuclear receptor subfamily 1, group H, member 3 JBrowse link 3 80,004,130 80,014,197 RGD:8554872
G Nsun6 NOP2/Sun RNA methyltransferase 6 JBrowse link 17 82,020,316 82,060,533 RGD:8554872
G Pacsin3 protein kinase C and casein kinase substrate in neurons 3 JBrowse link 3 80,072,425 80,081,058 RGD:8554872
G Pdlim3 PDZ and LIM domain 3 JBrowse link 16 49,543,140 49,574,362 RGD:8554872
G Pepd peptidase D JBrowse link 1 90,820,670 91,285,128 RGD:13592920
G Pkd1 polycystin 1, transient receptor potential channel interacting JBrowse link 10 13,914,057 13,962,008 RGD:13592920
G Pkp2 plakophilin 2 JBrowse link 11 88,912,163 88,972,213 RGD:8554872
G Pln phospholamban JBrowse link 20 34,633,157 34,642,904 RGD:8554872
G Pomc proopiomelanocortin JBrowse link 6 28,382,937 28,388,771 RGD:11554173
G Ppp6r1 protein phosphatase 6, regulatory subunit 1 JBrowse link 1 72,756,819 72,784,492 RGD:8554872
G Prkaca protein kinase cAMP-activated catalytic subunit alpha JBrowse link 19 25,095,089 25,118,869 RGD:1580713
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 JBrowse link 4 6,559,153 6,799,888 RGD:1580716
RGD:8554872
RGD:1580715
G Psmc3 proteasome 26S subunit, ATPase 3 JBrowse link 3 79,876,938 79,882,319 RGD:8554872
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:11072362
RGD:8554872
RGD:13592920
G Ptprh protein tyrosine phosphatase, receptor type, H JBrowse link 1 72,809,935 72,859,161 RGD:8554872
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase JBrowse link 4 147,532,040 147,592,769 RGD:11554173
G Rapsn receptor-associated protein of the synapse JBrowse link 3 79,859,815 79,869,486 RGD:8554872
G Rassf1 Ras association domain family member 1 JBrowse link 8 116,307,149 116,318,289 RGD:11554173
G Rbm20 RNA binding motif protein 20 JBrowse link 1 274,391,932 274,589,816 RGD:8554872
G Retn resistin JBrowse link 12 2,201,909 2,203,649 RGD:7207251
G RGD1309540 similar to hypothetical protein MGC40841; similar to hypothetical protein MGC4707 JBrowse link 3 80,092,589 80,349,249 RGD:8554872
G Ryr2 ryanodine receptor 2 JBrowse link 17 65,533,998 65,955,606 RGD:8554872
G Scn5a sodium voltage-gated channel alpha subunit 5 JBrowse link 8 128,169,191 128,266,681 RGD:8554872
G Sgca sarcoglycan, alpha JBrowse link 10 82,770,905 82,785,142 RGD:8554872
G Sgcb sarcoglycan, beta JBrowse link 14 37,113,194 37,128,623 RGD:8554872
G Slc25a4 solute carrier family 25 member 4 JBrowse link 16 49,266,903 49,270,698 RGD:1580619
G Slc39a13 solute carrier family 39 member 13 JBrowse link 3 79,884,524 79,892,664 RGD:8554872
G Slc9a1 solute carrier family 9 member A1 JBrowse link 5 151,573,122 151,626,360 RGD:11554173
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 JBrowse link 6 3,105,443 3,182,977 RGD:8554872
G Spi1 Spi-1 proto-oncogene JBrowse link 3 79,918,127 79,937,708 RGD:8554872
G Ssuh2 ssu-2 homolog JBrowse link 4 144,301,913 144,322,197 RGD:8554872
G Syt5 synaptotagmin 5 JBrowse link 1 72,859,806 72,867,934 RGD:8554872
G Tbca tubulin folding cofactor A JBrowse link 2 24,449,498 24,505,351 RGD:11554173
G Tcap titin-cap JBrowse link 10 86,337,705 86,338,414 RGD:8554872
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:11073617
G Tgfb3 transforming growth factor, beta 3 JBrowse link 6 109,913,757 109,936,217 RGD:8554872
G Timp2 TIMP metallopeptidase inhibitor 2 JBrowse link 10 107,338,465 107,386,072 RGD:1580653
G Tmem43 transmembrane protein 43 JBrowse link 4 123,118,468 123,133,610 RGD:8554872
G Tmem86b transmembrane protein 86B JBrowse link 1 72,784,147 72,807,768 RGD:8554872
G Tmpo thymopoietin JBrowse link 7 31,847,412 31,872,416 RGD:8554872
G Tnnc1 troponin C1, slow skeletal and cardiac type JBrowse link 16 7,292,207 7,295,238 RGD:1580739
RGD:8554872
G Tnni3 troponin I3, cardiac type JBrowse link 1 72,882,806 72,886,490 RGD:1580420
RGD:8554872
G Tnnt1 troponin T1, slow skeletal type JBrowse link 1 72,889,270 72,899,629 RGD:8554872
G Tnnt2 troponin T2, cardiac type JBrowse link 13 52,662,974 52,680,992 RGD:1580440
RGD:8554872
RGD:11554173
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:11554173
G Tpm1 tropomyosin 1 JBrowse link 8 72,814,737 72,841,496 RGD:8554872
G Trim63 tripartite motif containing 63 JBrowse link 5 152,533,362 152,547,138 RGD:8554872
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 JBrowse link 1 101,293,300 101,323,484 RGD:8554872
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:1580781
RGD:8554872
G Ucn urocortin JBrowse link 6 26,602,144 26,602,974 RGD:1580792
G Vcl vinculin JBrowse link 15 3,455,211 3,544,738 RGD:1580356
RGD:8554872
G Xirp1 xin actin-binding repeat containing 1 JBrowse link 8 128,694,809 128,712,092 RGD:13592920
G Yy1 YY1 transcription factor JBrowse link 6 132,702,443 132,726,848 RGD:1580831
hypertrophic cardiomyopathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actn2 actinin alpha 2 JBrowse link 17 66,304,530 66,397,647 RGD:8554872
G Cacna1c calcium voltage-gated channel subunit alpha1 C JBrowse link 4 150,635,808 151,270,790 RGD:8554872
G Cav3 caveolin 3 JBrowse link 4 144,382,945 144,398,919 RGD:7240710
RGD:8554872
G Csrp3 cysteine and glycine rich protein 3 JBrowse link 1 104,147,205 104,166,389 RGD:8554872
G Lama4 laminin subunit alpha 4 JBrowse link 20 44,060,715 44,201,966 RGD:8554872
G Ldb3 LIM domain binding 3 JBrowse link 16 10,878,348 10,943,016 RGD:8554872
G Mybpc3 myosin binding protein C3 JBrowse link 3 79,940,509 79,958,731 RGD:8554872
G Myh6 myosin heavy chain 6 JBrowse link 15 33,605,653 33,629,730 RGD:8554872
RGD:11554173
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:7240710
RGD:8554872
G Myh7b myosin heavy chain 7B JBrowse link 3 151,105,038 151,150,621 RGD:8554872
G Myl2 myosin light chain 2 JBrowse link 12 39,951,863 39,959,065 RGD:8554872
G Myl3 myosin light chain 3 JBrowse link 8 119,030,852 119,036,996 RGD:8554872
G Mylk2 myosin light chain kinase 2 JBrowse link 3 148,386,185 148,397,851 RGD:7240710
RGD:8554872
G Nexn nexilin (F actin binding protein) JBrowse link 2 257,452,937 257,484,607 RGD:8554872
G Sgcd sarcoglycan, delta JBrowse link 10 32,062,946 32,471,454 RGD:8554872
G Tnni3 troponin I3, cardiac type JBrowse link 1 72,882,806 72,886,490 RGD:8554872
G Tnnt2 troponin T2, cardiac type JBrowse link 13 52,662,974 52,680,992 RGD:8554872
G Tpm1 tropomyosin 1 JBrowse link 8 72,814,737 72,841,496 RGD:8554872
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
hypertrophic cardiomyopathy 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myl2 myosin light chain 2 JBrowse link 12 39,951,863 39,959,065 RGD:7240710
RGD:8554872
hypertrophic cardiomyopathy 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actc1 actin, alpha, cardiac muscle 1 JBrowse link 3 105,507,403 105,512,939 RGD:7240710
RGD:8554872
hypertrophic cardiomyopathy 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Csrp3 cysteine and glycine rich protein 3 JBrowse link 1 104,147,205 104,166,389 RGD:7240710
RGD:8554872
hypertrophic cardiomyopathy 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnnc1 troponin C1, slow skeletal and cardiac type JBrowse link 16 7,292,207 7,295,238 RGD:7240710
RGD:8554872
hypertrophic cardiomyopathy 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ldb3 LIM domain binding 3 JBrowse link 16 10,878,348 10,943,016 RGD:8554872
G Mir208b microRNA 208b JBrowse link 15 33,639,510 33,639,621 RGD:8554872
G Myh6 myosin heavy chain 6 JBrowse link 15 33,605,653 33,629,730 RGD:7240710
RGD:8554872
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
hypertrophic cardiomyopathy 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vcl vinculin JBrowse link 15 3,455,211 3,544,738 RGD:7240710
RGD:8554872
hypertrophic cardiomyopathy 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myoz2 myozenin 2 JBrowse link 2 227,180,887 227,207,629 RGD:7240710
RGD:8554872
hypertrophic cardiomyopathy 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Jph2 junctophilin 2 JBrowse link 3 159,709,998 159,776,536 RGD:7240710
RGD:8554872
hypertrophic cardiomyopathy 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep85l centrosomal protein 85-like JBrowse link 20 34,574,043 34,743,142 RGD:8554872
G Pln phospholamban JBrowse link 20 34,633,157 34,642,904 RGD:7240710
RGD:8554872
hypertrophic cardiomyopathy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnnt2 troponin T2, cardiac type JBrowse link 13 52,662,974 52,680,992 RGD:7240710
RGD:8554872
hypertrophic cardiomyopathy 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nexn nexilin (F actin binding protein) JBrowse link 2 257,452,937 257,484,607 RGD:7240710
RGD:8554872
hypertrophic cardiomyopathy 25 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tcap titin-cap JBrowse link 10 86,337,705 86,338,414 RGD:7240710
RGD:8554872
G Tnni3 troponin I3, cardiac type JBrowse link 1 72,882,806 72,886,490 RGD:8554872
hypertrophic cardiomyopathy 26 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flnc filamin C JBrowse link 4 56,710,934 56,738,779 RGD:8554872
RGD:7240710
Hypertrophic Cardiomyopathy 27 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alpk3 alpha-kinase 3 JBrowse link 1 142,882,997 142,931,940 RGD:8554872
RGD:7240710
hypertrophic cardiomyopathy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tpm1 tropomyosin 1 JBrowse link 8 72,814,737 72,841,496 RGD:7240710
RGD:8554872
hypertrophic cardiomyopathy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Braf B-Raf proto-oncogene, serine/threonine kinase JBrowse link 4 67,389,331 67,520,549 RGD:8554872
G Mybpc3 myosin binding protein C3 JBrowse link 3 79,940,509 79,958,731 RGD:7240710
RGD:8554872
G Ncf1 neutrophil cytosolic factor 1 JBrowse link 12 25,497,104 25,506,300 RGD:8554872
G Ryr2 ryanodine receptor 2 JBrowse link 17 65,533,998 65,955,606 RGD:8554872
G Tcap titin-cap JBrowse link 10 86,337,705 86,338,414 RGD:8554872
hypertrophic cardiomyopathy 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 JBrowse link 4 6,559,153 6,799,888 RGD:7240710
RGD:8554872
hypertrophic cardiomyopathy 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnni3 troponin I3, cardiac type JBrowse link 1 72,882,806 72,886,490 RGD:7240710
RGD:8554872
hypertrophic cardiomyopathy 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myl3 myosin light chain 3 JBrowse link 8 119,030,852 119,036,996 RGD:7240710
RGD:8554872
hypertrophic cardiomyopathy 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:7240710
RGD:8554872
RGD:11554173
Mitochondrial Complex I Deficiency, Nuclear Type 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acad9 acyl-CoA dehydrogenase family, member 9 JBrowse link 2 122,782,051 122,806,166 RGD:7240710
RGD:8554872
G Bard1 BRCA1 associated RING domain 1 JBrowse link 9 78,297,723 78,368,777 RGD:8554872
G Cfap92 cilia and flagella associated protein 92 JBrowse link 4 119,572,669 119,626,852 RGD:8554872
Sensorineural Deafness with Hypertrophic Cardiomyopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myo6 myosin VI JBrowse link 8 87,583,649 87,731,271 RGD:8554872
SHONE COMPLEX term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Notch1 notch receptor 1 JBrowse link 3 3,905,562 3,951,015 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15609
    disease of anatomical entity 14966
      cardiovascular system disease 4274
        heart disease 2487
          Ventricular Outflow Obstruction 277
            aortic valve stenosis 234
              subvalvular aortic stenosis 194
                SHONE COMPLEX 1
                Subvalvular Aortic Stenosis, Eisenberg Type 0
                discrete subaortic stenosis + 0
                hypertrophic cardiomyopathy + 193
Path 2
Term Annotations click to browse term
  disease 15609
    disease of anatomical entity 14966
      cardiovascular system disease 4274
        vascular disease 3304
          artery disease 2256
            aortic disease 543
              aortic valve disease 253
                aortic valve stenosis 234
                  subvalvular aortic stenosis 194
                    SHONE COMPLEX 1
                    Subvalvular Aortic Stenosis, Eisenberg Type 0
                    discrete subaortic stenosis + 0
                    hypertrophic cardiomyopathy + 193
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.