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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Cardiomyopathy
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Accession:HP:0001638 term browser browse the term
Definition:A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.
Synonyms:exact_synonym: Disease of the heart muscle
 xref: Fyler:1840;   SNOMEDCT_US:57809008;   SNOMEDCT_US:85898001;   UMLS:C0878544


show annotations for term's descendants           Sort by:
Cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS1 alanyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707 		JBrowse link
G ABCC9 ATP binding cassette subfamily C member 9 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:9536098 PMID:12166651 PMID:16563363 PMID:17245405 PMID:17576681 More... NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543 		JBrowse link
G ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase IAGP HPO ORPHA:98907 NCBI chr 3:43,690,870...43,734,371
Ensembl chr 3:43,690,108...43,734,371 		JBrowse link
G AC009264.1 novel transcript, antisense to CHRM2 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:18451336 NCBI chr 7:136,898,773...137,164,341
Ensembl chr 7:136,685,559...137,182,107 		JBrowse link
G ACADS acyl-CoA dehydrogenase short chain IAGP HPO PMID:18054510 MIM:201470 ORPHA:26792 NCBI chr12:120,725,826...120,740,008
Ensembl chr12:120,725,774...120,740,008 		JBrowse link
G ACTA1 actin alpha 1, skeletal muscle IAGP HPO ORPHA:171433 ORPHA:171439 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G ACTC1 actin alpha cardiac muscle 1 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:676951 PMID:2255271 PMID:9536098 PMID:10494087 PMID:10966831 More... NCBI chr15:34,790,230...34,795,549
Ensembl chr15:34,790,107...34,795,589 		JBrowse link
G ACTN2 actinin alpha 2 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:9536098 PMID:14567970 PMID:17097056 PMID:17576681 PMID:20022194 More... NCBI chr 1:236,686,499...236,764,631
Ensembl chr 1:236,664,141...236,764,631 		JBrowse link
G ADCY5 adenylate cyclase 5 IAGP HPO PMID:30975617 PMID:34631954 MIM:619647 MIM:619651 NCBI chr 3:123,282,296...123,449,090
Ensembl chr 3:123,282,296...123,449,090 		JBrowse link
G AGL amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase IAGP HPO MIM:232400 NCBI chr 1:99,849,258...99,924,023
Ensembl chr 1:99,850,361...99,924,023 		JBrowse link
G AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 IAGP HPO MIM:608594 NCBI chr 9:136,673,143...136,687,457
Ensembl chr 9:136,673,143...136,687,457 		JBrowse link
G AHCY adenosylhomocysteinase IAGP HPO MIM:613752 ORPHA:88618 NCBI chr20:34,231,981...34,311,836
Ensembl chr20:34,280,268...34,311,802 		JBrowse link
G AIP aryl hydrocarbon receptor interacting protein IAGP HPO MIM:102200 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154 		JBrowse link
G AKAP9 A-kinase anchoring protein 9 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23861362 PMID:25016126 PMID:25741868 PMID:28492532 NCBI chr 7:91,940,862...92,110,673
Ensembl chr 7:91,940,840...92,110,673 		JBrowse link
G ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase IAGP HPO PMID:14973778 MIM:608540 ORPHA:79327 NCBI chr16:5,071,843...5,087,379
Ensembl chr16:5,033,702...5,087,379 		JBrowse link
G ALG3 ALG3 alpha-1,3- mannosyltransferase IAGP HPO ORPHA:79321 NCBI chr 3:184,242,301...184,249,525
Ensembl chr 3:184,242,301...184,249,548 		JBrowse link
G ALMS1 ALMS1 centrosome and basal body associated protein IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166 		JBrowse link
G ALPK3 alpha kinase 3 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:21441111 PMID:24033266 PMID:25741868 PMID:26846950 PMID:27106955 More... NCBI chr15:84,817,356...84,873,479
Ensembl chr15:84,817,356...84,873,479 		JBrowse link
G ANK2 ankyrin 2 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:12571597 PMID:15075330 PMID:15178757 PMID:16253912 PMID:17161064 More... NCBI chr 4:112,705,622...113,383,736
Ensembl chr 4:112,818,032...113,384,221 		JBrowse link
G ANKRD1 ankyrin repeat domain 1 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:9536098 PMID:17576681 PMID:19525294 PMID:19608030 PMID:19608031 More... NCBI chr10:90,912,096...90,921,087
Ensembl chr10:90,912,096...90,921,087 		JBrowse link
G ANO5 anoctamin 5 IAGP HPO ORPHA:206549 NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567 		JBrowse link
G APOA1 apolipoprotein A1 IAGP HPO PMID:7493166 PMID:9916936 PMID:10198255 MIM:620657 NCBI chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622 		JBrowse link
G ARL6 ARF like GTPase 6 IAGP HPO ORPHA:110 NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229 		JBrowse link
G ARSB arylsulfatase B IAGP HPO MIM:253200 NCBI chr 5:78,777,209...78,985,958
Ensembl chr 5:78,777,209...78,986,087 		JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 IAGP HPO ORPHA:2131 NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591 		JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 IAGP HPO ORPHA:2131 NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497 		JBrowse link
G BAG3 BAG cochaperone 3 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:21353195 PMID:21361913 PMID:21459883 PMID:23582692 PMID:23861362 More... NCBI chr10:119,651,380...119,677,819
Ensembl chr10:119,651,380...119,677,819 		JBrowse link
G BBIP1 BBSome interacting protein 1 IAGP HPO ORPHA:110 NCBI chr10:110,898,730...110,919,366
Ensembl chr10:110,898,730...110,919,201 		JBrowse link
G BBS1 Bardet-Biedl syndrome 1 IAGP HPO ORPHA:110 NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613 		JBrowse link
G BBS10 Bardet-Biedl syndrome 10 IAGP HPO ORPHA:110 NCBI chr12:76,344,474...76,348,415
Ensembl chr12:76,344,474...76,348,415 		JBrowse link
G BBS12 Bardet-Biedl syndrome 12 IAGP HPO ORPHA:110 NCBI chr 4:122,700,442...122,744,939
Ensembl chr 4:122,732,702...122,744,942 		JBrowse link
G BBS2 Bardet-Biedl syndrome 2 IAGP HPO ORPHA:110 NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667 		JBrowse link
G BBS4 Bardet-Biedl syndrome 4 IAGP HPO ORPHA:110 NCBI chr15:72,686,207...72,738,473
Ensembl chr15:72,686,186...72,742,006 		JBrowse link
G BBS5 Bardet-Biedl syndrome 5 IAGP HPO ORPHA:110 NCBI chr 2:169,479,494...169,506,655
Ensembl chr 2:169,479,480...169,506,655 		JBrowse link
G BBS7 Bardet-Biedl syndrome 7 IAGP HPO ORPHA:110 NCBI chr 4:121,824,329...121,870,474
Ensembl chr 4:121,824,329...121,870,487 		JBrowse link
G BBS9 Bardet-Biedl syndrome 9 IAGP HPO ORPHA:110 NCBI chr 7:33,129,285...33,635,767
Ensembl chr 7:33,109,557...33,877,180 		JBrowse link
G BMP2 bone morphogenetic protein 2 IAGP HPO MIM:235200 NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246 		JBrowse link
G BMP6 bone morphogenetic protein 6 IAGP HPO ORPHA:465508 NCBI chr 6:7,726,099...7,881,728
Ensembl chr 6:7,726,099...7,881,728 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24033266 PMID:24728327 PMID:25741868 PMID:26260725 PMID:26530882 More... NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G C1QBP complement C1q binding protein IAGP HPO PMID:28942965 MIM:617713 NCBI chr17:5,432,777...5,439,155
Ensembl chr17:5,432,777...5,448,830 		JBrowse link
G C2orf49 chromosome 2 open reading frame 49 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 NCBI chr 2:105,337,540...105,385,899
Ensembl chr 2:105,337,532...105,350,712 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP HPO ORPHA:2131 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489 		JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23861362 PMID:25184293 PMID:25741868 PMID:26230511 PMID:26386135 More... NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950 		JBrowse link
G CACNA1C-AS1 CACNA1C antisense RNA 1 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23861362 PMID:25184293 PMID:25741868 PMID:26230511 PMID:26386135 More... NCBI chr12:2,676,001...2,691,157
Ensembl chr12:2,668,500...2,812,944 		JBrowse link
G CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:20817017 PMID:23414114 PMID:23861362 PMID:23874304 PMID:24033266 More... NCBI chr10:18,140,424...18,543,557
Ensembl chr10:18,140,424...18,543,557 		JBrowse link
G CALR3 calreticulin 3 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr19:16,479,061...16,496,167
Ensembl chr19:16,479,061...16,496,167 		JBrowse link
G CARS1 cysteinyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613 		JBrowse link
G CASQ2 calsequestrin 2 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:12034872 PMID:17881003 PMID:18543230 PMID:19709828 PMID:20530761 More... NCBI chr 1:115,700,021...115,768,714
Ensembl chr 1:115,698,038...115,837,921 		JBrowse link
G CAV3 caveolin 3 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:09536092 PMID:11251997 PMID:11884389 PMID:14672715 PMID:15099591 More... NCBI chr 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808 		JBrowse link
G CCND1 cyclin D1 IAGP HPO ORPHA:892 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474 		JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C IAGP HPO MIM:130650 NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775 		JBrowse link
G CEP19 centrosomal protein 19 IAGP HPO ORPHA:110 NCBI chr 3:196,706,277...196,712,250
Ensembl chr 3:196,706,277...196,712,250 		JBrowse link
G CEP290 centrosomal protein 290 IAGP HPO ORPHA:110 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G CEP85L centrosomal protein 85 like IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:12610310 PMID:12639993 PMID:16235537 PMID:16432188 PMID:17655857 More... NCBI chr 6:118,460,772...118,710,089
Ensembl chr 6:118,460,772...118,710,075 		JBrowse link
G CFAP418 cilia and flagella associated protein 418 IAGP HPO ORPHA:110 NCBI chr 8:95,244,913...95,269,201
Ensembl chr 8:95,244,913...95,269,201 		JBrowse link
G CHRM2 cholinergic receptor muscarinic 2 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:18451336 NCBI chr 7:136,868,652...137,020,213
Ensembl chr 7:136,868,652...137,020,255 		JBrowse link
G CISD2 CDGSH iron sulfur domain 2 IAGP HPO ORPHA:3463 NCBI chr 4:102,868,992...102,892,807
Ensembl chr 4:102,868,974...102,892,807 		JBrowse link
G CLASP1 cytoplasmic linker associated protein 1 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868 PMID:26522830 PMID:28492532 PMID:28669401 PMID:32628740 NCBI chr 2:121,337,776...121,649,462
Ensembl chr 2:121,337,776...121,649,476 		JBrowse link
G CLPB ClpB family mitochondrial disaggregase IAGP HPO ORPHA:445038 NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680 		JBrowse link
G CNBP CCHC-type zinc finger nucleic acid binding protein IAGP HPO ORPHA:606 NCBI chr 3:129,167,827...129,183,896
Ensembl chr 3:129,167,827...129,183,922 		JBrowse link
G CORIN corin, serine peptidase IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868 PMID:37913506 NCBI chr 4:47,594,001...47,838,067
Ensembl chr 4:47,593,999...47,838,106 		JBrowse link
G COX10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 IAGP HPO PMID:12928484 MIM:619046 NCBI chr17:14,069,504...14,208,677
Ensembl chr17:14,069,490...14,231,736 		JBrowse link
G COX15 cytochrome c oxidase assembly homolog COX15 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar
HPO		 PMID:25741868 MIM:615119 NCBI chr10:99,694,293...99,732,127
Ensembl chr10:99,710,868...99,732,127 		JBrowse link
G CPT2 carnitine palmitoyltransferase 2 IAGP HPO ORPHA:228305 ORPHA:228308 NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197 		JBrowse link
G CRYAB crystallin alpha B IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar
HPO		 PMID:1560021 PMID:2299599 PMID:9536098 PMID:11013455 PMID:16483541 More... ORPHA:399058 NCBI chr11:111,908,564...111,923,740
Ensembl chr11:111,908,564...111,923,722 		JBrowse link
G CSRP3 cysteine and glycine rich protein 3 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:9039266 PMID:12507422 PMID:12642359 PMID:14567970 PMID:15781201 More... NCBI chr11:19,182,030...19,201,983
Ensembl chr11:19,182,030...19,210,571 		JBrowse link
G CSRP3-AS1 CSRP3 and E2F8 antisense RNA 1 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868 NCBI chr11:19,196,713...19,313,258
Ensembl chr11:19,196,741...19,310,726 		JBrowse link
G CTF1 cardiotrophin 1 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr16:30,895,846...30,903,560
Ensembl chr16:30,896,614...30,903,547 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 disease_progression IAGP associated with Chagas disease; DNA:SNP:promoter:g.-251A>T (rs4073) RGD PMID:22537745 RGD:39939013 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716 		JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 IAGP HPO ORPHA:289157 NCBI chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986 		JBrowse link
G CYP2R1 cytochrome P450 family 2 subfamily R member 1 IAGP HPO ORPHA:289157 NCBI chr11:14,877,440...14,892,443
Ensembl chr11:14,877,440...14,892,231 		JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr 7:92,112,153...92,134,803
Ensembl chr 7:92,084,987...92,134,803 		JBrowse link
G D2HGDH D-2-hydroxyglutarate dehydrogenase IAGP HPO MIM:600721 NCBI chr 2:241,734,630...241,768,811
Ensembl chr 2:241,734,602...241,768,816 		JBrowse link
G DCAF8 DDB1 and CUL4 associated factor 8 IAGP HPO MIM:610100 NCBI chr 1:160,215,720...160,262,549
Ensembl chr 1:160,215,715...160,262,549 		JBrowse link
G DCHS1 dachsous cadherin-related 1 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868 NCBI chr11:6,621,330...6,655,809
Ensembl chr11:6,621,330...6,655,809 		JBrowse link
G DDX3X DEAD-box helicase 3 X-linked IAGP HPO ORPHA:3338 NCBI chr  X:41,333,308...41,364,472
Ensembl chr  X:41,333,348...41,364,472 		JBrowse link
G DES desmin IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:9536098 PMID:10430757 PMID:10717012 PMID:10905661 PMID:14724127 More... NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735 		JBrowse link
G DLD dihydrolipoamide dehydrogenase IAGP HPO ORPHA:2394 NCBI chr 7:107,891,107...107,921,198
Ensembl chr 7:107,891,162...107,931,730 		JBrowse link
G DMD dystrophin IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar
HPO		 PMID:1549596 PMID:7041906 PMID:7599634 PMID:7599638 PMID:7611292 More... MIM:300376 MIM:310200 ORPHA:98896 NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G DNAAF3 dynein axonemal assembly factor 3 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:22876777 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr19:55,158,661...55,166,722
Ensembl chr19:55,158,661...55,166,722 		JBrowse link
G DNASE1L1 deoxyribonuclease 1 like 1 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:154,401,236...154,412,101
Ensembl chr  X:154,401,236...154,412,112 		JBrowse link
G DSC2 desmocollin 2 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:205460 PMID:1245073 PMID:7971964 PMID:9536098 PMID:16199547 More... NCBI chr18:31,058,840...31,102,421
Ensembl chr18:31,058,545...31,102,600 		JBrowse link
G DSCAS DSC1/DSC2 antisense RNA IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:16199547 PMID:20864495 PMID:21636032 PMID:23911551 PMID:24033266 More... NCBI chr18:31,101,588...31,162,789
Ensembl chr18:31,101,540...31,250,873 		JBrowse link
G DSG2 desmoglein 2 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:271711 PMID:2569966 PMID:9536098 PMID:12586364 PMID:16025435 More... NCBI chr18:31,498,177...31,549,008
Ensembl chr18:31,497,624...31,551,351 		JBrowse link
G DSG2-AS1 DSG2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:16025435 PMID:16773573 PMID:16774985 PMID:17105751 PMID:17372169 More... NCBI chr18:31,542,146...31,556,911
Ensembl chr18:31,542,146...31,556,948 		JBrowse link
G DSP desmoplakin IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar
HPO		 PMID:246676 PMID:491020 PMID:2450378 PMID:3198322 PMID:9536098 More... ORPHA:158687 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717 		JBrowse link
G DSP-AS1 DSP antisense RNA 1 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:10395892 PMID:16917092 PMID:18632414 PMID:20129281 PMID:20152563 More... NCBI chr 6:7,540,451...7,543,083
Ensembl chr 6:7,539,659...7,543,119 		JBrowse link
G DST dystonin IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar NCBI chr 6:56,457,996...56,954,830
Ensembl chr 6:56,457,987...56,954,830 		JBrowse link
G DTNA dystrobrevin alpha IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr18:34,493,312...34,891,844
Ensembl chr18:34,493,291...34,891,844 		JBrowse link
G EMD emerin IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:19377476 PMID:20474083 PMID:24033266 PMID:24503780 PMID:25741868 More... NCBI chr  X:154,379,295...154,381,523
Ensembl chr  X:154,379,273...154,381,574 		JBrowse link
G EPG5 ectopic P-granules 5 autophagy tethering factor IAGP HPO PMID:25331754 MIM:242840 ORPHA:1493 NCBI chr18:45,800,581...45,967,329
Ensembl chr18:45,800,581...45,967,329 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP HPO ORPHA:33364 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918 		JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit IAGP HPO ORPHA:33364 NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO ORPHA:90324 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit IAGP HPO ORPHA:90324 NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073 		JBrowse link
G FHL1 four and a half LIM domains 1 IAGP HPO MIM:300280 NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359 		JBrowse link
G FHL2 four and a half LIM domains 2 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:17416352 PMID:24033266 PMID:25741868 PMID:26627873 PMID:28492532 More... NCBI chr 2:105,357,712...105,438,529
Ensembl chr 2:105,357,712...105,438,513 		JBrowse link
G FHOD3 formin homology 2 domain containing 3 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24088304 PMID:25741868 PMID:32335906 NCBI chr18:36,297,713...36,780,220
Ensembl chr18:36,297,713...36,780,220 		JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO MIM:216340 ORPHA:3472 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G FKRP fukutin related protein IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar
HPO		 PMID:16368217 PMID:21816046 PMID:24556424 PMID:25741868 PMID:26467025 More... ORPHA:370959 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G FKTN fukutin IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:14627679 PMID:17878207 PMID:21102627 PMID:25741868 PMID:26467025 More... NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G FLAD1 flavin adenine dinucleotide synthetase 1 IAGP HPO MIM:255100 NCBI chr 1:154,983,344...154,993,111
Ensembl chr 1:154,983,338...154,993,111 		JBrowse link
G FLNC filamin C IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar
HPO		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25208129 More... MIM:614065 ORPHA:171445 ORPHA:63273 NCBI chr 7:128,830,406...128,859,272
Ensembl chr 7:128,830,406...128,859,274 		JBrowse link
G FLNC-AS1 FLNC antisense RNA 1 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25351925 PMID:25617006 PMID:25741868 PMID:26467025 PMID:26555887 More... NCBI chr 7:128,850,162...128,862,626
Ensembl chr 7:128,850,162...128,862,626 		JBrowse link
G FXN frataxin IAGP HPO ORPHA:95 NCBI chr 9:69,035,752...69,079,076
Ensembl chr 9:69,035,751...69,079,076 		JBrowse link
G GAA alpha glucosidase IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25466677 PMID:25741868 PMID:27183828 PMID:28492532 PMID:29149851 More... NCBI chr17:80,101,581...80,119,881
Ensembl chr17:80,101,533...80,119,881 		JBrowse link
G GATC glutamyl-tRNA amidotransferase subunit C IAGP HPO PMID:30283131 MIM:618839 NCBI chr12:120,446,444...120,463,749
Ensembl chr12:120,446,444...120,463,749 		JBrowse link
G GBE1 1,4-alpha-glucan branching enzyme 1 IAGP HPO MIM:232500 NCBI chr 3:81,489,703...81,761,645
Ensembl chr 3:81,489,703...81,761,645 		JBrowse link
G GJD2-DT GJD2 divergent transcript IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:676951 PMID:2255271 PMID:9536098 PMID:10494087 PMID:10966831 More... NCBI chr15:34,755,084...34,812,923
Ensembl chr15:34,755,062...34,813,505 		JBrowse link
G GLA galactosidase alpha IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:1677356 PMID:2836863 PMID:6379599 PMID:7504405 PMID:7911050 More... NCBI chr  X:101,397,803...101,407,925
Ensembl chr  X:101,393,273...101,408,012 		JBrowse link
G GLB1 galactosidase beta 1 IAGP HPO ORPHA:79255 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP HPO PMID:23768512 MIM:615352 ORPHA:363623 ORPHA:370959 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973 		JBrowse link
G GNAI2 G protein subunit alpha i2 IAGP HPO PMID:9637720 MIM:192605 NCBI chr 3:50,227,068...50,263,358
Ensembl chr 3:50,226,292...50,259,362 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase IAGP HPO ORPHA:602 NCBI chr 9:36,214,441...36,276,978
Ensembl chr 9:36,214,441...36,277,042 		JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP HPO PMID:15633164 MIM:252600 ORPHA:576 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959 		JBrowse link
G GPC3 glypican 3 IAGP HPO MIM:312870 ORPHA:373 NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100 		JBrowse link
G GPC4 glypican 4 IAGP HPO MIM:312870 ORPHA:373 NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489 		JBrowse link
G GPD1L glycerol-3-phosphate dehydrogenase 1 like IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr 3:32,106,620...32,168,709
Ensembl chr 3:32,105,689...32,168,709 		JBrowse link
G GSN gelsolin IAGP HPO PMID:33499149 MIM:105120 ORPHA:85448 NCBI chr 9:121,201,483...121,332,842
Ensembl chr 9:121,207,794...121,332,843 		JBrowse link
G GTF2E2 general transcription factor IIE subunit 2 IAGP HPO ORPHA:33364 NCBI chr 8:30,578,318...30,658,236
Ensembl chr 8:30,578,318...30,658,236 		JBrowse link
G GTF2H5 general transcription factor IIH subunit 5 IAGP HPO ORPHA:33364 NCBI chr 6:158,168,350...158,199,344
Ensembl chr 6:158,168,350...158,199,344 		JBrowse link
G GUSB glucuronidase beta IAGP HPO PMID:26908836 MIM:253220 NCBI chr 7:65,960,684...65,982,213
Ensembl chr 7:65,960,684...65,982,215 		JBrowse link
G GYG1 glycogenin 1 IAGP HPO ORPHA:263297 NCBI chr 3:148,991,540...149,031,775
Ensembl chr 3:148,991,408...149,031,775 		JBrowse link
G GYS1 glycogen synthase 1 IAGP HPO PMID:17928598 MIM:611556 NCBI chr19:48,968,130...48,993,309
Ensembl chr19:48,968,130...48,993,310 		JBrowse link
G H19-ICR H19/IGF2 imprinting control region IAGP HPO MIM:130650 NCBI chr11:1,998,202...2,003,509 JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha IAGP HPO MIM:609016 ORPHA:746 NCBI chr 2:26,190,635...26,244,632
Ensembl chr 2:26,190,635...26,244,672 		JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta IAGP HPO ORPHA:746 NCBI chr 2:26,244,939...26,290,465
Ensembl chr 2:26,243,170...26,290,465 		JBrowse link
G HAMP hepcidin antimicrobial peptide IAGP HPO MIM:613313 NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143 		JBrowse link
G HCN2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868 NCBI chr19:589,881...617,159
Ensembl chr19:589,881...617,159 		JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23623143 PMID:23861362 PMID:24607718 PMID:25145518 PMID:25145519 More... NCBI chr15:73,319,859...73,368,958
Ensembl chr15:73,319,859...73,368,958 		JBrowse link
G HFE homeostatic iron regulator IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar
HPO		 PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 More... MIM:235200 ORPHA:465508 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343 		JBrowse link
G HFE-AS1 HFE antisense RNA 1 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:8696333 PMID:8896550 PMID:9106528 PMID:9162021 PMID:9356458 More... NCBI chr 6:26,086,290...26,091,034 JBrowse link
G HJV hemojuvelin BMP co-receptor IAGP HPO PMID:14982867 MIM:602390 NCBI chr 1:146,017,470...146,021,735
Ensembl chr 1:146,017,468...146,036,746 		JBrowse link
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 IAGP HPO ORPHA:52430 NCBI chr12:54,280,726...54,287,087
Ensembl chr12:54,280,193...54,287,088 		JBrowse link
G HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 IAGP HPO ORPHA:52430 NCBI chr 7:26,189,927...26,200,746
Ensembl chr 7:26,171,151...26,201,529 		JBrowse link
G HOPX HOP homeobox IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar NCBI chr 4:56,647,998...56,681,706
Ensembl chr 4:56,647,989...56,681,877 		JBrowse link
G HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 IAGP HPO MIM:203300 NCBI chr10:98,413,948...98,446,935
Ensembl chr10:98,410,939...98,446,963 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 IAGP HPO MIM:613657 NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477 		JBrowse link
G IDS iduronate 2-sulfatase IAGP HPO ORPHA:217085 ORPHA:217093 NCBI chr  X:149,476,988...149,505,306
Ensembl chr  X:149,476,988...149,521,096 		JBrowse link
G IDUA alpha-L-iduronidase IAGP HPO MIM:607014 ORPHA:93473 ORPHA:93476 NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564 		JBrowse link
G IFT172 intraflagellar transport 172 IAGP HPO ORPHA:110 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805 		JBrowse link
G IFT27 intraflagellar transport 27 IAGP HPO ORPHA:110 NCBI chr22:36,758,211...36,776,119
Ensembl chr22:36,758,202...36,776,256 		JBrowse link
G IFT74 intraflagellar transport 74 IAGP HPO ORPHA:110 NCBI chr 9:26,947,110...27,066,134
Ensembl chr 9:26,947,039...27,066,134 		JBrowse link
G IGF2 insulin like growth factor 2 IAGP HPO MIM:130650 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391 		JBrowse link
G ILK integrin linked kinase IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr11:6,603,774...6,610,870
Ensembl chr11:6,603,708...6,610,874 		JBrowse link
G INSR insulin receptor IAGP HPO ORPHA:769 NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414 		JBrowse link
G ITPA inosine triphosphatase IAGP HPO MIM:616647 NCBI chr20:3,204,065...3,227,449
Ensembl chr20:3,208,868...3,223,870 		JBrowse link
G JAG2 jagged canonical Notch ligand 2 IAGP HPO PMID:33861953 MIM:619566 NCBI chr14:105,140,995...105,168,776
Ensembl chr14:105,140,982...105,168,824 		JBrowse link
G JPH2 junctophilin 2 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:22584458 PMID:23834499 PMID:24033266 PMID:25500949 PMID:25741868 More... NCBI chr20:44,106,590...44,187,188
Ensembl chr20:44,106,590...44,187,188 		JBrowse link
G JUP junction plakoglobin IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar
HPO		 PMID:16467215 PMID:19863551 PMID:20525856 PMID:20864495 PMID:23299917 More... ORPHA:158687 ORPHA:34217 NCBI chr17:41,754,609...41,786,711
Ensembl chr17:41,754,604...41,786,931 		JBrowse link
G KANSL1 KAT8 regulatory NSL complex subunit 1 IAGP HPO ORPHA:363958 ORPHA:363965 NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389 		JBrowse link
G KBTBD13 kelch repeat and BTB domain containing 13 IAGP HPO ORPHA:171439 NCBI chr15:65,076,746...65,079,948
Ensembl chr15:65,076,746...65,079,948 		JBrowse link
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:8899564 PMID:9445165 PMID:10807545 PMID:10973849 PMID:12402336 More... NCBI chr21:34,446,688...34,512,210
Ensembl chr21:34,446,688...34,512,214 		JBrowse link
G KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:11207363 PMID:12414843 PMID:14504341 PMID:15037716 PMID:15212652 More... NCBI chr11:74,454,841...74,467,549
Ensembl chr11:74,454,841...74,467,729 		JBrowse link
G KCNH1 potassium voltage-gated channel subfamily H member 1 IAGP HPO MIM:135500 NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165 		JBrowse link
G KCNJ8-AS1 KCNJ8 antisense RNA 1 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:12166651 PMID:17245405 PMID:23861362 PMID:24033266 PMID:25741868 More... NCBI chr12:21,662,313...21,829,261 JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar
HPO		 PMID:14661677 PMID:14678125 PMID:16556865 PMID:17161064 PMID:17210839 More... MIM:130650 NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105 		JBrowse link
G KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 IAGP HPO MIM:130650 NCBI chr11:2,608,328...2,699,994
Ensembl chr11:2,597,308...2,700,003 		JBrowse link
G KLHL24 kelch like family member 24 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868 PMID:27889062 PMID:28492532 PMID:30715372 NCBI chr 3:183,635,623...183,684,519
Ensembl chr 3:183,635,610...183,684,519 		JBrowse link
G KLHL41 kelch like family member 41 IAGP HPO ORPHA:171433 ORPHA:171439 NCBI chr 2:169,509,702...169,526,258
Ensembl chr 2:169,509,702...169,526,258 		JBrowse link
G LAMA2 laminin subunit alpha 2 IAGP HPO ORPHA:258 NCBI chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566 		JBrowse link
G LAMA4 laminin subunit alpha 4 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:9536098 PMID:17576681 PMID:17646580 PMID:20890277 PMID:23861362 More... NCBI chr 6:112,107,931...112,254,985
Ensembl chr 6:112,107,931...112,254,939 		JBrowse link
G LAMA4-AS1 LAMA4 antisense RNA 1 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:112,236,596...112,306,683 JBrowse link
G LAMP2 lysosomal associated membrane protein 2 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:19533775 PMID:23785128 PMID:24033266 PMID:24503780 PMID:25091525 More... NCBI chr  X:120,426,148...120,469,349
Ensembl chr  X:120,426,148...120,469,365 		JBrowse link
G LDB3 LIM domain binding 3 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar
HPO		 PMID:4855680 PMID:9536098 PMID:11696561 PMID:14662268 PMID:15668942 More... MIM:609452 ORPHA:98912 NCBI chr10:86,666,788...86,736,072
Ensembl chr10:86,666,785...86,736,072 		JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP HPO PMID:36055214 MIM:620089 NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156 		JBrowse link
G LIPT2 lipoyl(octanoyl) transferase 2 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:11207363 PMID:12414843 PMID:14504341 PMID:15037716 PMID:15212652 More... NCBI chr11:74,490,519...74,493,724
Ensembl chr11:74,490,519...74,493,724 		JBrowse link
G LMNA lamin A/C IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar
HPO		 PMID:262236 PMID:2007407 PMID:2338570 PMID:2733290 PMID:2753225 More... MIM:151660 MIM:212112 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G LOC110121269 VISTA enhancer hs2177 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:10973849 PMID:11076825 PMID:11710892 PMID:12193783 PMID:12471205 More... NCBI chr 3:38,578,362...38,581,496 JBrowse link
G LOC110121486 VISTA enhancer hs2143 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:4855680 PMID:14662268 PMID:15668942 PMID:16476425 PMID:17337483 More... NCBI chr10:86,684,072...86,689,569 JBrowse link
G LOC111718493 skeletal muscle cis-regulatory module overlapping ALPK3 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar NCBI chr15:84,840,763...84,841,256 JBrowse link
G LOC114827850 VISTA enhancer hs2149 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:203862 PMID:08673105 PMID:9724616 PMID:10948063 PMID:11102452 More... NCBI chr12:110,918,953...110,921,387 JBrowse link
G LOC114827851 VISTA enhancer hs2155 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:9536098 PMID:17576681 PMID:20656787 PMID:22194935 PMID:23861362 More... NCBI chr14:23,404,568...23,409,443 JBrowse link
G LOC121175350 Sharpr-MPRA regulatory region 2641 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25016126 PMID:25741868 PMID:28492532 NCBI chr 7:92,042,035...92,042,329 JBrowse link
G LOC126805765 BRD4-independent group 4 enhancer GRCh37_chr1:78383688-78384887 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 1:77,918,003...77,919,202 JBrowse link
G LOC126805877 MED14-independent group 3 enhancer GRCh37_chr1:156099693-156100892 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:262236 PMID:10908904 PMID:11102973 PMID:11503164 PMID:12629077 More... NCBI chr 1:156,129,902...156,131,101 JBrowse link
G LOC126806067 BRD4-independent group 4 enhancer GRCh37_chr1:237753258-237754457 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:19926015 PMID:24033266 PMID:25741868 PMID:26114861 PMID:28404607 More... NCBI chr 1:237,589,958...237,591,157 JBrowse link
G LOC126806068 BRD4-independent group 4 enhancer GRCh37_chr1:237947411-237948610 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:18752142 PMID:19926015 PMID:22222782 PMID:23595086 PMID:23861362 More... NCBI chr 1:237,784,111...237,785,310 JBrowse link
G LOC126806420 BRD4-independent group 4 enhancer GRCh37_chr2:179401104-179402303 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23396983 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28045975 More... NCBI chr 2:178,536,377...178,537,576 JBrowse link
G LOC126806421 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179407630-179408829 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:24503780 PMID:25741868 PMID:26272908 More... NCBI chr 2:178,542,903...178,544,102 JBrowse link
G LOC126806422 BRD4-independent group 4 enhancer GRCh37_chr2:179440205-179441404 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23396983 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25741868 More... NCBI chr 2:178,575,478...178,576,677 JBrowse link
G LOC126806423 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179443309-179444508 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23861362 PMID:23975875 PMID:24033266 PMID:25589632 PMID:25741868 More... NCBI chr 2:178,578,582...178,579,781 JBrowse link
G LOC126806424 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179456337-179457536 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:22335739 PMID:23396983 PMID:23861362 PMID:23975875 PMID:24033266 More... NCBI chr 2:178,591,610...178,592,809 JBrowse link
G LOC126806425 BRD4-independent group 4 enhancer GRCh37_chr2:179471933-179473132 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:18414213 PMID:23396983 PMID:23861362 PMID:23975875 PMID:24033266 More... NCBI chr 2:178,607,206...178,608,405 JBrowse link
G LOC126806426 BRD4-independent group 4 enhancer GRCh37_chr2:179478848-179480047 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26516846 More... NCBI chr 2:178,614,121...178,615,320 JBrowse link
G LOC126806427 BRD4-independent group 4 enhancer GRCh37_chr2:179485777-179486976 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:18414213 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24476948 More... NCBI chr 2:178,621,050...178,622,249 JBrowse link
G LOC126806428 BRD4-independent group 4 enhancer GRCh37_chr2:179588362-179589561 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:18414213 PMID:23861362 PMID:24033266 PMID:25163546 PMID:25741868 More... NCBI chr 2:178,723,635...178,724,834 JBrowse link
G LOC126806429 BRD4-independent group 4 enhancer GRCh37_chr2:179591393-179592592 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:18414213 PMID:21520333 PMID:23861362 PMID:23975875 PMID:24033266 More... NCBI chr 2:178,726,666...178,727,865 JBrowse link
G LOC126806430 BRD4-independent group 4 enhancer GRCh37_chr2:179593794-179594993 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:18414213 PMID:23396983 PMID:23463027 PMID:23861362 PMID:24033266 More... NCBI chr 2:178,729,067...178,730,266 JBrowse link
G LOC126806431 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179595719-179596918 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23396983 PMID:23478172 PMID:23861362 PMID:24033266 PMID:25741868 More... NCBI chr 2:178,730,992...178,732,191 JBrowse link
G LOC126806433 BRD4-independent group 4 enhancer GRCh37_chr2:179638309-179639508 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23910462 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26516846 More... NCBI chr 2:178,773,582...178,774,781 JBrowse link
G LOC126807137 CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:114276560-114277759 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr 4:113,355,404...113,356,603 JBrowse link
G LOC126859766 MED14-independent group 3 enhancer GRCh37_chr6:112462018-112463217 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:112,140,816...112,142,015 JBrowse link
G LOC126861896 BRD4-independent group 4 enhancer GRCh37_chr14:23854904-23856103 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr14:23,385,695...23,386,894 JBrowse link
G LOC126861897 BRD4-independent group 4 enhancer GRCh37_chr14:23884455-23885654 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:564455 PMID:9536098 PMID:11968089 PMID:12707239 PMID:12881443 More... NCBI chr14:23,415,246...23,416,445 JBrowse link
G LOC126861898 BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:319790 PMID:623675 PMID:823477 PMID:996382 PMID:1400509 More... NCBI chr14:23,424,400...23,425,599 JBrowse link
G LOC129931597 ATAC-STARR-seq lymphoblastoid silent region 1421 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:12920062 PMID:13129702 PMID:14985400 PMID:15539782 PMID:18414213 More... NCBI chr 1:156,114,934...156,115,023 JBrowse link
G LOC129935182 ATAC-STARR-seq lymphoblastoid active region 16807 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:18948003 PMID:23975875 PMID:24033266 PMID:24395473 PMID:25589632 More... NCBI chr 2:178,530,425...178,530,614 JBrowse link
G LOC129935183 ATAC-STARR-seq lymphoblastoid active region 16808 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23861362 PMID:23975875 PMID:24033266 PMID:25589632 PMID:25741868 More... NCBI chr 2:178,530,645...178,531,034 JBrowse link
G LOC129935184 ATAC-STARR-seq lymphoblastoid active region 16809 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 2:178,531,045...178,531,124 JBrowse link
G LOC129999273 ATAC-STARR-seq lymphoblastoid silent region 18616 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868 PMID:26555887 PMID:28356264 PMID:28492532 PMID:37937776 NCBI chr 7:128,842,213...128,842,262 JBrowse link
G LOC129999660 ATAC-STARR-seq lymphoblastoid silent region 18823 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:31527676 NCBI chr 7:151,631,843...151,632,712 JBrowse link
G LOC130004109 ATAC-STARR-seq lymphoblastoid active region 3587 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:73,998,145...73,998,344 JBrowse link
G LOC130004243 ATAC-STARR-seq lymphoblastoid active region 3695 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868 NCBI chr10:86,668,642...86,668,691 JBrowse link
G LOC130005201 ATAC-STARR-seq lymphoblastoid active region 4345 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr11:6,604,166...6,604,405 JBrowse link
G LOC130057222 ATAC-STARR-seq lymphoblastoid silent region 6507 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868 NCBI chr15:63,048,194...63,048,853 JBrowse link
G LOC130058878 ATAC-STARR-seq lymphoblastoid silent region 7400 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr16:30,902,026...30,902,525 JBrowse link
G LOC130062340 ATAC-STARR-seq lymphoblastoid silent region 9384 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:9536098 PMID:16199547 PMID:17105751 PMID:17576681 PMID:18639457 More... NCBI chr18:31,497,907...31,498,376 JBrowse link
G LTBP4 latent transforming growth factor beta binding protein 4 IAGP HPO ORPHA:98896 NCBI chr19:40,593,166...40,629,820
Ensembl chr19:40,592,883...40,629,818 		JBrowse link
G LZTFL1 leucine zipper transcription factor like 1 IAGP HPO ORPHA:110 NCBI chr 3:45,823,316...45,915,724
Ensembl chr 3:45,823,316...45,916,042 		JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 IAGP HPO PMID:29469822 MIM:605275 NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032 		JBrowse link
G MHRT myosin heavy chain associated RNA transcript IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:564455 PMID:737223 PMID:901918 PMID:1199839 PMID:9536098 More... NCBI chr14:23,415,450...23,417,595 JBrowse link
G MICU1 mitochondrial calcium uptake 1 IAGP HPO ORPHA:401768 NCBI chr10:72,367,340...72,626,079
Ensembl chr10:72,367,340...72,626,131 		JBrowse link
G MIPEP mitochondrial intermediate peptidase IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868 PMID:27799064 PMID:28492532 PMID:34620555 NCBI chr13:23,730,189...23,889,400
Ensembl chr13:23,730,189...23,889,400 		JBrowse link
G MIR208B microRNA 208b IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868 PMID:27247418 PMID:28492532 PMID:29121657 PMID:31638223 NCBI chr14:23,417,987...23,418,063
Ensembl chr14:23,417,987...23,418,063 		JBrowse link
G MKKS MKKS centrosomal shuttling protein IAGP HPO ORPHA:110 NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222 		JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP HPO ORPHA:110 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605 		JBrowse link
G MMUT methylmalonyl-CoA mutase IAGP HPO MIM:251000 ORPHA:79312 NCBI chr 6:49,430,360...49,463,253
Ensembl chr 6:49,430,360...49,463,253 		JBrowse link
G MPLKIP M-phase specific PLK1 interacting protein IAGP HPO ORPHA:33364 NCBI chr 7:40,126,027...40,134,622
Ensembl chr 7:40,126,027...40,134,622 		JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP HPO ORPHA:320360 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207 		JBrowse link
G MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 IAGP HPO ORPHA:480 NCBI chr MT:8,366...8,572
Ensembl chr MT:8,366...8,572 		JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I IAGP HPO ORPHA:550 NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445 		JBrowse link
G MT-CO2 mitochondrially encoded cytochrome c oxidase II IAGP HPO ORPHA:550 NCBI chr MT:7,586...8,269
Ensembl chr MT:7,586...8,269 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III IAGP HPO ORPHA:550 NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP HPO ORPHA:550 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 IAGP HPO ORPHA:550 NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137 		JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 IAGP HPO ORPHA:550 NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148 		JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 IAGP HPO ORPHA:550 NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673 		JBrowse link
G MT-TF mitochondrially encoded tRNA-Phe (UUU/C) IAGP HPO ORPHA:550 NCBI chr MT:577...647
Ensembl chr MT:577...647 		JBrowse link
G MT-TH mitochondrially encoded tRNA-His (CAU/C) IAGP HPO ORPHA:550 NCBI chr MT:12,138...12,206
Ensembl chr MT:12,138...12,206 		JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP HPO ORPHA:324525 ORPHA:480 ORPHA:550 NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304 		JBrowse link
G MT-TQ mitochondrially encoded tRNA-Gln (CAA/G) IAGP HPO ORPHA:550 NCBI chr MT:4,329...4,400
Ensembl chr MT:4,329...4,400 		JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP HPO ORPHA:550 NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514 		JBrowse link
G MT-TS2 mitochondrially encoded tRNA-Ser (AGU/C) 2 IAGP HPO ORPHA:550 NCBI chr MT:12,207...12,265
Ensembl chr MT:12,207...12,265 		JBrowse link
G MT-TT mitochondrially encoded tRNA-Thr (ACN) IAGP HPO ORPHA:254857 NCBI chr MT:15,888...15,953
Ensembl chr MT:15,888...15,953 		JBrowse link
G MT-TW mitochondrially encoded tRNA-Trp (UGA/G) IAGP HPO ORPHA:550 NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579 		JBrowse link
G MYBPC3 myosin binding protein C3 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:198863 PMID:203962 PMID:203979 PMID:208206 PMID:208208 More... NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702 		JBrowse link
G MYH6 myosin heavy chain 6 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:9536098 PMID:15998695 PMID:16199547 PMID:17576681 PMID:20215591 More... NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273 		JBrowse link
G MYH7 myosin heavy chain 7 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:1975 PMID:177788 PMID:199274 PMID:204029 PMID:319790 More... NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
G MYL2 myosin light chain 2 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:203862 PMID:8673105 PMID:09535554 PMID:9536098 PMID:9724616 More... NCBI chr12:110,910,845...110,921,449
Ensembl chr12:110,909,996...111,052,434 		JBrowse link
G MYL3 myosin light chain 3 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:2938653 PMID:8673105 PMID:9536098 PMID:11174330 PMID:12021217 More... NCBI chr 3:46,857,872...46,882,182
Ensembl chr 3:46,835,110...46,882,178 		JBrowse link
G MYLK2 myosin light chain kinase 2 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:11733062 PMID:22995991 PMID:23299917 PMID:23861362 PMID:24033266 More... NCBI chr20:31,819,356...31,834,684
Ensembl chr20:31,819,308...31,834,689 		JBrowse link
G MYO18B myosin XVIIIB IAGP HPO MIM:616549 NCBI chr22:25,742,188...26,063,847
Ensembl chr22:25,742,144...26,031,045 		JBrowse link
G MYOM1 myomesin 1 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr18:3,066,807...3,247,376
Ensembl chr18:3,066,807...3,219,968 		JBrowse link
G MYOT myotilin IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar
HPO		 PMID:25741868 PMID:26467025 PMID:28492532 MIM:609200 ORPHA:98911 NCBI chr 5:137,867,860...137,887,851
Ensembl chr 5:137,867,858...137,887,851 		JBrowse link
G MYOZ2 myozenin 2 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:17434779 PMID:19472918 PMID:23861362 PMID:24033266 PMID:25741868 More... NCBI chr 4:119,135,832...119,187,789
Ensembl chr 4:119,135,832...119,187,789 		JBrowse link
G MYPN myopalladin IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar
HPO		 PMID:18006477 PMID:20801532 PMID:22286171 PMID:23861362 PMID:24033266 More... MIM:617336 ORPHA:171439 NCBI chr10:68,087,897...68,212,017
Ensembl chr10:68,087,897...68,212,017 		JBrowse link
G NBAS NBAS subunit of NRZ tethering complex IAGP HPO PMID:26073778 MIM:616483 NCBI chr 2:14,778,909...15,561,334
Ensembl chr 2:15,166,916...15,561,340 		JBrowse link
G NDUFB10 NADH:ubiquinone oxidoreductase subunit B10 IAGP HPO PMID:28040730 MIM:619003 NCBI chr16:1,959,538...1,961,975
Ensembl chr16:1,959,538...1,961,975 		JBrowse link
G NEB nebulin IAGP HPO ORPHA:171433 ORPHA:171439 ORPHA:399103 NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487 		JBrowse link
G NEBL nebulette IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar NCBI chr10:20,779,973...21,293,050
Ensembl chr10:20,779,973...21,293,011 		JBrowse link
G NEU1 neuraminidase 1 IAGP HPO MIM:256550 NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,063...31,862,905 		JBrowse link
G NEXN nexilin F-actin binding protein IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19881492 PMID:20970104 More... NCBI chr 1:77,888,624...77,943,895
Ensembl chr 1:77,888,513...77,943,895 		JBrowse link
G NONO non-POU domain containing octamer binding IAGP DNA:SNPs:nonsense mutations, splice-site mutation:CDS, intron:c.457C>T, c.550C>T, c.1171+1G>A RGD PMID:31883306 RGD:155882460 NCBI chr  X:71,283,635...71,301,168
Ensembl chr  X:71,254,814...71,301,522 		JBrowse link
G NPHP1 nephrocystin 1 IAGP HPO ORPHA:110 NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066 		JBrowse link
G NPPA natriuretic peptide A IAGP HPO MIM:615745 ORPHA:1344 NCBI chr 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345 		JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase IAGP HPO ORPHA:1215 NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811 		JBrowse link
G OXTR oxytocin receptor IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:9536092 PMID:11251997 PMID:11884389 PMID:14672715 PMID:15099591 More... NCBI chr 3:8,741,269...8,769,613
Ensembl chr 3:8,750,381...8,769,628 		JBrowse link
G PARS2 prolyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:618437 NCBI chr 1:54,756,898...54,764,523
Ensembl chr 1:54,756,898...54,764,523 		JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha IAGP HPO MIM:606054 ORPHA:35 NCBI chr13:100,089,093...100,530,435
Ensembl chr13:100,089,015...100,530,437 		JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta IAGP HPO MIM:606054 ORPHA:35 NCBI chr 3:136,250,340...136,330,169
Ensembl chr 3:136,250,340...136,337,896 		JBrowse link
G PDLIM3 PDZ and LIM domain 3 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:185,500,660...185,535,507
Ensembl chr 4:185,500,660...185,535,507 		JBrowse link
G PEX1 peroxisomal biogenesis factor 1 IAGP HPO ORPHA:772 NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520 		JBrowse link
G PEX10 peroxisomal biogenesis factor 10 IAGP HPO ORPHA:772 NCBI chr 1:2,403,974...2,413,827
Ensembl chr 1:2,403,964...2,413,797 		JBrowse link
G PEX11B peroxisomal biogenesis factor 11 beta IAGP HPO ORPHA:772 NCBI chr 1:145,911,348...145,918,717
Ensembl chr 1:145,911,350...145,918,717 		JBrowse link
G PEX12 peroxisomal biogenesis factor 12 IAGP HPO ORPHA:772 NCBI chr17:35,574,795...35,578,571
Ensembl chr17:35,574,795...35,578,863 		JBrowse link
G PEX13 peroxisomal biogenesis factor 13 IAGP HPO ORPHA:772 NCBI chr 2:61,017,720...61,051,990
Ensembl chr 2:61,017,225...61,051,990 		JBrowse link
G PEX14 peroxisomal biogenesis factor 14 IAGP HPO ORPHA:772 NCBI chr 1:10,474,950...10,630,758
Ensembl chr 1:10,472,288...10,630,758 		JBrowse link
G PEX16 peroxisomal biogenesis factor 16 IAGP HPO ORPHA:772 NCBI chr11:45,909,663...45,918,822
Ensembl chr11:45,909,663...45,918,812 		JBrowse link
G PEX19 peroxisomal biogenesis factor 19 IAGP HPO ORPHA:772 NCBI chr 1:160,276,807...160,285,151
Ensembl chr 1:160,276,807...160,286,348 		JBrowse link
G PEX2 peroxisomal biogenesis factor 2 IAGP HPO ORPHA:772 NCBI chr 8:76,980,258...77,001,044
Ensembl chr 8:76,980,258...77,001,044 		JBrowse link
G PEX26 peroxisomal biogenesis factor 26 IAGP HPO ORPHA:772 NCBI chr22:18,077,990...18,105,396
Ensembl chr22:18,077,923...18,105,396 		JBrowse link
G PEX3 peroxisomal biogenesis factor 3 IAGP HPO ORPHA:772 NCBI chr 6:143,450,805...143,490,616
Ensembl chr 6:143,450,805...143,490,616 		JBrowse link
G PEX5 peroxisomal biogenesis factor 5 IAGP HPO ORPHA:772 NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574 		JBrowse link
G PEX6 peroxisomal biogenesis factor 6 IAGP HPO ORPHA:772 NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181 		JBrowse link
G PEX7 peroxisomal biogenesis factor 7 IAGP HPO PMID:17325280 MIM:266500 MIM:614879 ORPHA:773 NCBI chr 6:136,822,592...136,913,934
Ensembl chr 6:136,822,564...136,913,934 		JBrowse link
G PHKA2 phosphorylase kinase regulatory subunit alpha 2 IAGP HPO ORPHA:264580 NCBI chr  X:18,892,298...18,984,114
Ensembl chr  X:18,892,298...18,984,114 		JBrowse link
G PHKG2 phosphorylase kinase catalytic subunit gamma 2 IAGP HPO ORPHA:264580 NCBI chr16:30,748,425...30,761,176
Ensembl chr16:30,748,293...30,761,176 		JBrowse link
G PHYH phytanoyl-CoA 2-hydroxylase IAGP HPO MIM:266500 ORPHA:773 NCBI chr10:13,277,799...13,300,064
Ensembl chr10:13,277,796...13,302,412 		JBrowse link
G PKD2L2-DT PKD2L2 divergent transcript IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:137,853,811...137,889,319 JBrowse link
G PKP2 plakophilin 2 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:2163603 PMID:2412583 PMID:9536098 PMID:11790773 PMID:15489853 More... NCBI chr12:32,790,755...32,896,777
Ensembl chr12:32,790,745...32,896,798 		JBrowse link
G PLN phospholamban IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:12610310 PMID:12639993 PMID:16235537 PMID:16432188 PMID:17655857 More... NCBI chr 6:118,548,296...118,561,716
Ensembl chr 6:118,548,296...118,561,716 		JBrowse link
G PMM2 phosphomannomutase 2 IAGP HPO PMID:11134235 MIM:212065 NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534 		JBrowse link
G PNPLA2 patatin like phospholipase domain containing 2 IAGP HPO PMID:17187067 MIM:610717 ORPHA:565612 ORPHA:98908 NCBI chr11:818,914...825,573
Ensembl chr11:818,914...825,573 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP HPO MIM:258450 ORPHA:254886 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP HPO ORPHA:370959 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305 		JBrowse link
G POMK protein O-mannose kinase IAGP HPO ORPHA:370959 NCBI chr 8:43,093,515...43,123,434
Ensembl chr 8:43,093,498...43,131,180 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP HPO MIM:609308 MIM:613155 ORPHA:370959 ORPHA:86812 NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP HPO ORPHA:370959 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
G PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar
HPO		 PMID:762819 PMID:2526523 PMID:9536098 PMID:10355918 PMID:10820940 More... MIM:261740 NCBI chr 7:151,556,127...151,877,115
Ensembl chr 7:151,556,124...151,877,214 		JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 IAGP HPO MIM:212720 NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529 		JBrowse link
G RBCK1 RANBP2-type and C3HC4-type zinc finger containing 1 IAGP HPO PMID:23104095 MIM:615895 NCBI chr20:408,299...432,139
Ensembl chr20:407,498...432,139 		JBrowse link
G RBM20 RNA binding motif protein 20 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:18585512 PMID:19712804 PMID:20590677 PMID:21483645 PMID:22004663 More... NCBI chr10:110,643,245...110,839,468
Ensembl chr10:110,644,336...110,839,471 		JBrowse link
G RMND1 required for meiotic nuclear division 1 homolog IAGP HPO MIM:614922 NCBI chr 6:151,404,762...151,452,126
Ensembl chr 6:151,398,898...151,452,158 		JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP HPO ORPHA:175 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017 		JBrowse link
G RNASEH1 ribonuclease H1 IAGP HPO ORPHA:329336 NCBI chr 2:3,531,813...3,558,333
Ensembl chr 2:3,541,430...3,558,333 		JBrowse link
G RNF113A ring finger protein 113A IAGP HPO ORPHA:33364 NCBI chr  X:119,870,475...119,871,733
Ensembl chr  X:119,870,475...119,871,733 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868 PMID:26522830 PMID:28492532 PMID:28669401 PMID:32628740 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007 		JBrowse link
G RPL36A-HNRNPH2 RPL36A-HNRNPH2 readthrough IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:1677356 PMID:2836863 PMID:6379599 PMID:7504405 PMID:7911050 More... NCBI chr  X:101,391,011...101,414,133
Ensembl chr  X:101,391,011...101,412,297 		JBrowse link
G RPL3L ribosomal protein L3 like IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868 PMID:32514796 PMID:32870709 NCBI chr16:1,943,974...1,954,689
Ensembl chr16:1,943,974...1,957,606 		JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 IAGP HPO ORPHA:192 NCBI chr  X:20,149,911...20,267,097
Ensembl chr  X:20,149,911...20,267,519 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP HPO ORPHA:329336 ORPHA:480 NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G RYR2 ryanodine receptor 2 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:285698 PMID:1817325 PMID:9536098 PMID:11078270 PMID:11157710 More... NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988 		JBrowse link
G SCAPER S-phase cyclin A associated protein in the ER IAGP HPO ORPHA:110 NCBI chr15:76,347,904...76,905,340
Ensembl chr15:76,347,904...76,905,444 		JBrowse link
G SCLT1 sodium channel and clathrin linker 1 IAGP HPO ORPHA:110 NCBI chr 4:128,873,241...129,093,539
Ensembl chr 4:128,864,921...129,093,600 		JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449 		JBrowse link
G SCN3B sodium voltage-gated channel beta subunit 3 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23257389 PMID:23861362 PMID:24033266 PMID:25741868 PMID:27435932 More... NCBI chr11:123,629,188...123,654,624
Ensembl chr11:123,629,187...123,655,244 		JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar
HPO		 PMID:2107088 PMID:8661019 PMID:9536098 PMID:9716085 PMID:10508990 More... ORPHA:1344 NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,743 		JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 IAGP HPO ORPHA:521411 NCBI chr22:50,523,568...50,526,442
Ensembl chr22:50,523,568...50,526,461 		JBrowse link
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 IAGP HPO ORPHA:110 NCBI chr 1:243,256,041...243,500,091
Ensembl chr 1:243,256,034...243,500,091 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP HPO PMID:27683074 MIM:619259 NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082 		JBrowse link
G SGCA sarcoglycan alpha IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar
HPO		 PMID:8538707 PMID:12746421 PMID:18285821 PMID:25741868 PMID:25802880 More... MIM:608099 NCBI chr17:50,166,005...50,175,928
Ensembl chr17:50,164,214...50,175,928 		JBrowse link
G SGCB sarcoglycan beta IAGP HPO ORPHA:119 NCBI chr 4:52,020,706...52,038,299
Ensembl chr 4:52,020,706...52,038,299 		JBrowse link
G SGCD sarcoglycan delta IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24033266 PMID:24503780 PMID:25741868 PMID:26084686 PMID:26467025 More... NCBI chr 5:155,727,832...156,767,788
Ensembl chr 5:155,870,344...156,767,788 		JBrowse link
G SLC19A2 solute carrier family 19 member 2 IAGP HPO MIM:249270 NCBI chr 1:169,463,909...169,485,970
Ensembl chr 1:169,463,909...169,485,944 		JBrowse link
G SLC1A3 solute carrier family 1 member 3 IAGP HPO ORPHA:2131 NCBI chr 5:36,606,606...36,688,334
Ensembl chr 5:36,596,588...36,688,334 		JBrowse link
G SLC22A5 solute carrier family 22 member 5 IAGP HPO PMID:11715001 MIM:212140 NCBI chr 5:132,369,710...132,395,612
Ensembl chr 5:132,369,710...132,395,613 		JBrowse link
G SLC25A20 solute carrier family 25 member 20 IAGP HPO MIM:212138 ORPHA:159 NCBI chr 3:48,856,926...48,898,882
Ensembl chr 3:48,856,926...48,898,904 		JBrowse link
G SLC40A1 solute carrier family 40 member 1 IAGP HPO PMID:11431687 MIM:606069 NCBI chr 2:189,560,590...189,580,786
Ensembl chr 2:189,560,590...189,583,758 		JBrowse link
G SMPX small muscle protein X-linked IAGP HPO PMID:33974137 MIM:301075 NCBI chr  X:21,705,978...21,758,116
Ensembl chr  X:21,705,978...21,758,116 		JBrowse link
G SNUPN snurportin 1 IAGP HPO PMID:38366623 PMID:38413582 MIM:620793 NCBI chr15:75,598,086...75,626,461
Ensembl chr15:75,598,083...75,626,469 		JBrowse link
G SQSTM1 sequestosome 1 IAGP HPO ORPHA:603 NCBI chr 5:179,806,393...179,838,078
Ensembl chr 5:179,806,398...179,838,078 		JBrowse link
G SYNE2 spectrin repeat containing nuclear envelope protein 2 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar
HPO		 PMID:25741868 PMID:28492532 PMID:30755392 MIM:612999 NCBI chr14:63,761,596...64,226,449
Ensembl chr14:63,761,899...64,226,433 		JBrowse link
G TAF10 TATA-box binding protein associated factor 10 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar NCBI chr11:6,606,294...6,612,216
Ensembl chr11:6,606,294...6,612,539 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:972179 PMID:9536098 PMID:11238270 PMID:17576681 PMID:25741868 More... NCBI chr  X:154,411,539...154,421,726
Ensembl chr  X:154,411,524...154,421,726 		JBrowse link
G TARS1 threonyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 NCBI chr 5:33,440,696...33,468,091
Ensembl chr 5:33,440,696...33,468,091 		JBrowse link
G TCAP titin-cap IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:16911908 PMID:18585512 PMID:19035361 PMID:19412328 PMID:20215591 More... NCBI chr17:39,665,349...39,666,554
Ensembl chr17:39,665,349...39,666,554 		JBrowse link
G TFR2 transferrin receptor 2 IAGP HPO MIM:604250 NCBI chr 7:100,620,420...100,641,552
Ensembl chr 7:100,620,416...100,642,779 		JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868 PMID:28240702 PMID:28492532 NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011 		JBrowse link
G THBS2 thrombospondin 2 IAGP HPO PMID:38433265 MIM:620865 NCBI chr 6:169,215,785...169,253,846
Ensembl chr 6:169,215,780...169,254,050 		JBrowse link
G TIA1 TIA1 cytotoxic granule associated RNA binding protein IAGP HPO ORPHA:603 NCBI chr 2:70,209,444...70,248,793
Ensembl chr 2:70,209,444...70,248,660 		JBrowse link
G TK2 thymidine kinase 2 IAGP HPO ORPHA:254886 NCBI chr16:66,508,003...66,550,291
Ensembl chr16:66,508,003...66,552,544 		JBrowse link
G TMEM43 transmembrane protein 43 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18313022 PMID:18414213 More... NCBI chr 3:14,125,052...14,143,680
Ensembl chr 3:14,125,015...14,143,680 		JBrowse link
G TMPO thymopoietin IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:98,515,573...98,550,351
Ensembl chr12:98,515,561...98,550,351 		JBrowse link
G TNNC1 troponin C1, slow skeletal and cardiac type IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:18572189 PMID:19439414 PMID:20215591 PMID:20459070 PMID:21056975 More... NCBI chr 3:52,451,100...52,454,041
Ensembl chr 3:52,451,100...52,454,041 		JBrowse link
G TNNI3 troponin I3, cardiac type IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:3144325 PMID:3349559 PMID:7592712 PMID:9241277 PMID:9536098 More... NCBI chr19:55,151,767...55,157,732
Ensembl chr19:55,151,767...55,157,773 		JBrowse link
G TNNT1 troponin T1, slow skeletal type IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr19:55,132,698...55,149,206
Ensembl chr19:55,132,698...55,149,206 		JBrowse link
G TNNT2 troponin T2, cardiac type IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:181617 PMID:209243 PMID:209262 PMID:541918 PMID:936231 More... NCBI chr 1:201,359,014...201,377,680
Ensembl chr 1:201,359,008...201,377,764 		JBrowse link
G TPM1 tropomyosin 1 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:07729014 PMID:07898523 PMID:08205619 PMID:08523464 PMID:08774330 More... NCBI chr15:63,042,747...63,071,915
Ensembl chr15:63,042,620...63,071,915 		JBrowse link
G TPM1-AS TPM1 antisense RNA IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868 NCBI chr15:63,046,034...63,049,387
Ensembl chr15:62,971,190...63,049,387 		JBrowse link
G TPM2 tropomyosin 2 IAGP HPO ORPHA:171439 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		JBrowse link
G TPM3 tropomyosin 3 IAGP HPO ORPHA:171433 ORPHA:171439 NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648 		JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO PMID:25604658 MIM:225750 ORPHA:247691 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645 		JBrowse link
G TRIM32 tripartite motif containing 32 IAGP HPO ORPHA:110 NCBI chr 9:116,687,305...116,701,299
Ensembl chr 9:116,687,305...116,701,300 		JBrowse link
G TRIP4 thyroid hormone receptor interactor 4 IAGP HPO PMID:26924529 MIM:616866 NCBI chr15:64,387,836...64,455,303
Ensembl chr15:64,387,748...64,455,303 		JBrowse link
G TRNT1 tRNA nucleotidyl transferase 1 IAGP HPO PMID:23553769 MIM:616084 NCBI chr 3:3,126,940...3,153,435
Ensembl chr 3:3,126,933...3,153,435 		JBrowse link
G TRPM4 transient receptor potential cation channel subfamily M member 4 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:21887725 PMID:23382873 PMID:25467552 PMID:25741868 PMID:26820365 More... NCBI chr19:49,157,792...49,211,836
Ensembl chr19:49,157,741...49,211,836 		JBrowse link
G TTC8 tetratricopeptide repeat domain 8 IAGP HPO ORPHA:110 NCBI chr14:88,824,153...88,881,079
Ensembl chr14:88,824,153...88,881,078 		JBrowse link
G TTN titin IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar
HPO		 PMID:1745277 PMID:3125138 PMID:9536098 PMID:10053013 PMID:10462489 More... MIM:600334 MIM:608807 ORPHA:609 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:18414213 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24082139 More... NCBI chr 2:178,776,926...178,779,963
Ensembl chr 2:178,521,183...178,779,963 		JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:3125138 PMID:9536098 PMID:11310621 PMID:15802564 PMID:16084088 More... NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963 		JBrowse link
G TTR transthyretin IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar
HPO		 PMID:192115 PMID:1351039 PMID:1353008 PMID:1355416 PMID:1356051 More... MIM:105210 ORPHA:85447 NCBI chr18:31,591,877...31,598,821
Ensembl chr18:31,557,009...31,598,833 		JBrowse link
G TWNK twinkle mtDNA helicase IAGP HPO MIM:609286 NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403 		JBrowse link
G TXNRD2 thioredoxin reductase 2 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:28492532 NCBI chr22:19,875,522...19,941,818
Ensembl chr22:19,875,517...19,941,820 		JBrowse link
G UMPS uridine monophosphate synthetase IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar NCBI chr 3:124,730,452...124,749,273
Ensembl chr 3:124,730,433...124,749,273 		JBrowse link
G UQCRFS1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:31883641 NCBI chr19:29,205,320...29,213,151
Ensembl chr19:29,205,320...29,213,151 		JBrowse link
G USP9X ubiquitin specific peptidase 9 X-linked IAGP HPO ORPHA:480880 NCBI chr  X:41,085,445...41,236,579
Ensembl chr  X:41,085,445...41,236,579 		JBrowse link
G VAC14 VAC14 component of PIKFYVE complex IAGP HPO ORPHA:3472 NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160 		JBrowse link
G VANGL1 VANGL planar cell polarity protein 1 IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:115,641,970...115,698,221
Ensembl chr 1:115,641,970...115,698,224 		JBrowse link
G VCL vinculin IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:9536098 PMID:15331426 PMID:15769782 PMID:16236538 PMID:16712796 More... NCBI chr10:73,998,116...74,121,363
Ensembl chr10:73,995,193...74,121,363 		JBrowse link
G VCP valosin containing protein IAGP HPO ORPHA:329478 ORPHA:52430 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP HPO ORPHA:892 NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,676 		JBrowse link
G WARS2 tryptophanyl tRNA synthetase 2, mitochondrial IAGP HPO MIM:617710 ORPHA:572798 NCBI chr 1:119,031,216...119,140,672
Ensembl chr 1:119,031,216...119,140,654 		JBrowse link
G WDPCP WD repeat containing planar cell polarity effector IAGP HPO ORPHA:110 NCBI chr 2:63,119,559...63,840,826
Ensembl chr 2:63,119,559...63,827,843 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein IAGP HPO MIM:222300 ORPHA:3463 NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265 		JBrowse link
G XK X-linked Kx blood group antigen, Kell and VPS13A binding protein IAGP HPO PMID:11761473 MIM:300842 NCBI chr  X:37,685,791...37,732,130
Ensembl chr  X:37,685,791...37,732,130 		JBrowse link
Apical hypertrophic cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FHOD3 formin homology 2 domain containing 3 IAGP HPO PMID:30442288 MIM:619402 NCBI chr18:36,297,713...36,780,220
Ensembl chr18:36,297,713...36,780,220 		JBrowse link
G TNNI3 troponin I3, cardiac type IAGP HPO PMID:9241277 MIM:613690 NCBI chr19:55,151,767...55,157,732
Ensembl chr19:55,151,767...55,157,773 		JBrowse link
G VCL vinculin IAGP HPO PMID:16236538 MIM:613255 NCBI chr10:73,998,116...74,121,363
Ensembl chr10:73,995,193...74,121,363 		JBrowse link
Asymmetric septal hypertrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAV3 caveolin 3 IAGP HPO MIM:192600 NCBI chr 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808 		JBrowse link
G FHL1 four and a half LIM domains 1 IAGP ClinVar Annotator: match by term: Asymmetric septal hypertrophy ClinVar NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359 		JBrowse link
G FHOD3 formin homology 2 domain containing 3 IAGP HPO PMID:30442288 MIM:619402 NCBI chr18:36,297,713...36,780,220
Ensembl chr18:36,297,713...36,780,220 		JBrowse link
G FLNC filamin C IAGP ClinVar Annotator: match by term: Asymmetric septal hypertrophy ClinVar NCBI chr 7:128,830,406...128,859,272
Ensembl chr 7:128,830,406...128,859,274 		JBrowse link
G FLNC-AS1 FLNC antisense RNA 1 IAGP ClinVar Annotator: match by term: Asymmetric septal hypertrophy ClinVar NCBI chr 7:128,850,162...128,862,626
Ensembl chr 7:128,850,162...128,862,626 		JBrowse link
G GNS glucosamine (N-acetyl)-6-sulfatase IAGP HPO MIM:252940 NCBI chr12:64,713,449...64,759,406
Ensembl chr12:64,713,445...64,759,431 		JBrowse link
G HGSNAT heparan-alpha-glucosaminide N-acetyltransferase IAGP HPO MIM:252930 NCBI chr 8:43,140,464...43,202,855
Ensembl chr 8:43,140,464...43,202,855 		JBrowse link
G KLHL24 kelch like family member 24 IAGP HPO PMID:30715372 MIM:620236 NCBI chr 3:183,635,623...183,684,519
Ensembl chr 3:183,635,610...183,684,519 		JBrowse link
G LOC126861897 BRD4-independent group 4 enhancer GRCh37_chr14:23884455-23885654 IAGP ClinVar Annotator: match by term: Asymmetric septal hypertrophy ClinVar PMID:564455 PMID:15483641 PMID:18403758 PMID:20298698 PMID:21511876 More... NCBI chr14:23,415,246...23,416,445 JBrowse link
G MHRT myosin heavy chain associated RNA transcript IAGP ClinVar Annotator: match by term: Asymmetric septal hypertrophy ClinVar PMID:564455 PMID:15483641 PMID:18403758 PMID:20298698 PMID:21511876 More... NCBI chr14:23,415,450...23,417,595 JBrowse link
G MT-TI mitochondrially encoded tRNA-Ile (AUU/C) IAGP ClinVar Annotator: match by term: Asymmetric septal hypertrophy ClinVar PMID:12767666 NCBI chr MT:4,263...4,331
Ensembl chr MT:4,263...4,331 		JBrowse link
G MYBPC3 myosin binding protein C3 IAGP ClinVar Annotator: match by term: Asymmetric septal hypertrophy ClinVar PMID:203979 PMID:2943217 PMID:9536098 PMID:12818575 PMID:15519027 More... NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702 		JBrowse link
G MYH6 myosin heavy chain 6 IAGP HPO MIM:192600 NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273 		JBrowse link
G MYH7 myosin heavy chain 7 IAGP ClinVar Annotator: match by term: Asymmetric septal hypertrophy HPO
ClinVar		 PMID:564455 PMID:15483641 PMID:18403758 PMID:20298698 PMID:21511876 More... MIM:192600 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
G MYL2 myosin light chain 2 IAGP HPO PMID:12404107 MIM:608758 NCBI chr12:110,910,845...110,921,449
Ensembl chr12:110,909,996...111,052,434 		JBrowse link
G MYLK2 myosin light chain kinase 2 IAGP HPO MIM:192600 NCBI chr20:31,819,356...31,834,684
Ensembl chr20:31,819,308...31,834,689 		JBrowse link
G MYOZ2 myozenin 2 IAGP HPO PMID:17347475 MIM:613838 NCBI chr 4:119,135,832...119,187,789
Ensembl chr 4:119,135,832...119,187,789 		JBrowse link
G NAGLU N-acetyl-alpha-glucosaminidase IAGP HPO MIM:252920 NCBI chr17:42,536,241...42,544,449
Ensembl chr17:42,536,241...42,544,449 		JBrowse link
G PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 IAGP HPO MIM:600858 NCBI chr 7:151,556,127...151,877,115
Ensembl chr 7:151,556,124...151,877,214 		JBrowse link
G SGSH N-sulfoglucosamine sulfohydrolase IAGP HPO MIM:252900 NCBI chr17:80,200,673...80,220,333
Ensembl chr17:80,206,716...80,220,923 		JBrowse link
Atrial cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA5 gap junction protein alpha 5 IAGP HPO MIM:108770 NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362 		JBrowse link
G MYL4 myosin light chain 4 susceptibility IAGP DNA:missense mutation:cds (c.31G>A, p.E11K) (human) RGD PMID:29080865 RGD:40902867 NCBI chr17:47,189,433...47,227,650
Ensembl chr17:47,200,446...47,223,679 		JBrowse link
G NPPA natriuretic peptide A IAGP HPO PMID:23275345 MIM:615745 NCBI chr 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345 		JBrowse link
Biventricular noncompaction cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYH7 myosin heavy chain 7 IAGP ClinVar Annotator: match by term: Biventricular noncompaction cardiomyopathy ClinVar NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
Concentric hypertrophic cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALPK3 alpha kinase 3 IAGP HPO PMID:26846950 MIM:618052 NCBI chr15:84,817,356...84,873,479
Ensembl chr15:84,817,356...84,873,479 		JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C IAGP ClinVar Annotator: match by term: Concentric hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950 		JBrowse link
G CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin IAGP HPO MIM:204200 NCBI chr16:28,466,653...28,492,082
Ensembl chr16:28,474,111...28,495,575 		JBrowse link
G DES desmin IAGP HPO ORPHA:98909 NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735 		JBrowse link
G FHOD3 formin homology 2 domain containing 3 IAGP HPO PMID:30442288 MIM:619402 NCBI chr18:36,297,713...36,780,220
Ensembl chr18:36,297,713...36,780,220 		JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I IAGP HPO ORPHA:550 NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445 		JBrowse link
G MT-CO2 mitochondrially encoded cytochrome c oxidase II IAGP HPO ORPHA:550 NCBI chr MT:7,586...8,269
Ensembl chr MT:7,586...8,269 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III IAGP HPO ORPHA:550 NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP HPO ORPHA:550 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 IAGP HPO ORPHA:550 NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137 		JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 IAGP HPO ORPHA:550 NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148 		JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 IAGP HPO ORPHA:550 NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673 		JBrowse link
G MT-TF mitochondrially encoded tRNA-Phe (UUU/C) IAGP HPO ORPHA:550 NCBI chr MT:577...647
Ensembl chr MT:577...647 		JBrowse link
G MT-TH mitochondrially encoded tRNA-His (CAU/C) IAGP HPO ORPHA:550 NCBI chr MT:12,138...12,206
Ensembl chr MT:12,138...12,206 		JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP HPO ORPHA:550 NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304 		JBrowse link
G MT-TQ mitochondrially encoded tRNA-Gln (CAA/G) IAGP HPO ORPHA:550 NCBI chr MT:4,329...4,400
Ensembl chr MT:4,329...4,400 		JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP HPO ORPHA:550 NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514 		JBrowse link
G MT-TS2 mitochondrially encoded tRNA-Ser (AGU/C) 2 IAGP HPO ORPHA:550 NCBI chr MT:12,207...12,265
Ensembl chr MT:12,207...12,265 		JBrowse link
G MT-TW mitochondrially encoded tRNA-Trp (UGA/G) IAGP HPO ORPHA:550 NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579 		JBrowse link
G MYBPC3 myosin binding protein C3 IAGP ClinVar Annotator: match by term: Concentric hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702 		JBrowse link
G NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 IAGP HPO PMID:10944442 MIM:252010 NCBI chr 5:53,560,639...53,683,338
Ensembl chr 5:53,560,633...53,683,338 		JBrowse link
G TNNC1 troponin C1, slow skeletal and cardiac type IAGP HPO PMID:11385718 MIM:613243 NCBI chr 3:52,451,100...52,454,041
Ensembl chr 3:52,451,100...52,454,041 		JBrowse link
G TSFM Ts translation elongation factor, mitochondrial IAGP HPO PMID:17033963 MIM:610505 NCBI chr12:57,782,787...57,802,856
Ensembl chr12:57,782,761...57,808,071 		JBrowse link
Dilated cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC9 ATP binding cassette subfamily C member 9 IAGP ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy ClinVar
HPO		 PMID:15034580 PMID:24033266 PMID:24439875 PMID:25741868 PMID:27532257 More... MIM:608569 ORPHA:154 NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543 		JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 IAGP HPO MIM:611283 ORPHA:79159 NCBI chr11:134,253,568...134,265,855
Ensembl chr11:134,253,548...134,265,855 		JBrowse link
G ACAD9 acyl-CoA dehydrogenase family member 9 IAGP HPO MIM:611126 ORPHA:99901 NCBI chr 3:128,879,620...128,913,114
Ensembl chr 3:128,879,596...128,924,003 		JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain IAGP HPO ORPHA:26793 NCBI chr17:7,217,125...7,225,266
Ensembl chr17:7,217,125...7,225,266 		JBrowse link
G ACTA1 actin alpha 1, skeletal muscle IAGP HPO MIM:161800 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G ACTC1 actin alpha cardiac muscle 1 IAGP ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE ClinVar
HPO		 PMID:9563954 PMID:25741868 PMID:28492532 MIM:613424 ORPHA:154 NCBI chr15:34,790,230...34,795,549
Ensembl chr15:34,790,107...34,795,589 		JBrowse link
G ACTN2 actinin alpha 2 IAGP ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE ClinVar
HPO		 PMID:14567970 PMID:25741868 MIM:612158 ORPHA:154 NCBI chr 1:236,686,499...236,764,631
Ensembl chr 1:236,664,141...236,764,631 		JBrowse link
G ADA2 adenosine deaminase 2 IAGP HPO PMID:26867732 MIM:615688 NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235 		JBrowse link
G ADCY5 adenylate cyclase 5 IAGP HPO MIM:606703 ORPHA:324588 NCBI chr 3:123,282,296...123,449,090
Ensembl chr 3:123,282,296...123,449,090 		JBrowse link
G ALMS1 ALMS1 centrosome and basal body associated protein IAGP HPO MIM:203800 ORPHA:64 NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166 		JBrowse link
G ANKRD1 ankyrin repeat domain 1 IAGP ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy HPO
ClinVar		 PMID:19608031 PMID:23299917 PMID:23572067 PMID:23861362 PMID:24033266 More... ORPHA:154 NCBI chr10:90,912,096...90,921,087
Ensembl chr10:90,912,096...90,921,087 		JBrowse link
G ANKRD11 ankyrin repeat domain containing 11 IAGP HPO ORPHA:261250 NCBI chr16:89,267,630...89,490,561
Ensembl chr16:89,267,619...89,490,561 		JBrowse link
G ATP5F1A ATP synthase F1 subunit alpha IAGP HPO ORPHA:254913 NCBI chr18:46,080,248...46,104,227
Ensembl chr18:46,080,248...46,104,334 		JBrowse link
G ATP5F1D ATP synthase F1 subunit delta IAGP HPO PMID:29478781 MIM:618120 ORPHA:254913 NCBI chr19:1,241,751...1,244,825
Ensembl chr19:1,241,746...1,244,825 		JBrowse link
G ATP5F1E ATP synthase F1 subunit epsilon IAGP HPO ORPHA:254913 NCBI chr20:59,025,475...59,032,335
Ensembl chr20:59,025,475...59,032,345 		JBrowse link
G ATP5MK ATP synthase membrane subunit k IAGP HPO ORPHA:254913 NCBI chr10:103,389,050...103,396,475
Ensembl chr10:103,389,041...103,396,492 		JBrowse link
G ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 IAGP HPO ORPHA:254913 NCBI chr17:18,015,059...18,039,168
Ensembl chr17:17,977,409...18,039,209 		JBrowse link
G BAG3 BAG cochaperone 3 IAGP ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE
ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy 		ClinVar
HPO		 PMID:21353195 PMID:24033266 PMID:25741868 PMID:28436997 PMID:28492532 More... MIM:613881 ORPHA:154 NCBI chr10:119,651,380...119,677,819
Ensembl chr10:119,651,380...119,677,819 		JBrowse link
G BAG5 BAG cochaperone 5 IAGP HPO PMID:35044787 MIM:619747 ORPHA:154 NCBI chr14:103,556,551...103,562,657
Ensembl chr14:103,556,545...103,562,657 		JBrowse link
G BBS2 Bardet-Biedl syndrome 2 IAGP HPO PMID:7802002 MIM:615981 NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667 		JBrowse link
G BOLA3 bolA family member 3 IAGP HPO PMID:21944046 MIM:614299 NCBI chr 2:74,135,400...74,147,912
Ensembl chr 2:74,135,400...74,147,912 		JBrowse link
G BRCC3 BRCA1/BRCA2-containing complex subunit 3 IAGP HPO ORPHA:280679 NCBI chr  X:155,071,508...155,123,077
Ensembl chr  X:155,071,420...155,123,077 		JBrowse link
G CAP2 cyclase associated actin cytoskeleton regulatory protein 2 IAGP HPO PMID:30518548 PMID:33083013 MIM:620462 ORPHA:154 NCBI chr 6:17,393,595...17,557,780
Ensembl chr 6:17,393,595...17,557,780 		JBrowse link
G CASQ2 calsequestrin 2 IAGP HPO PMID:17875969 MIM:604772 NCBI chr 1:115,700,021...115,768,714
Ensembl chr 1:115,698,038...115,837,921 		JBrowse link
G CASZ1 castor zinc finger 1 IAGP HPO ORPHA:1606 NCBI chr 1:10,636,604...10,796,646
Ensembl chr 1:10,636,604...10,796,650 		JBrowse link
G CDK8 cyclin dependent kinase 8 susceptibility IAGP DNA:SNPs, haplotype:intron: (rs17083838, rs7992670) (human) RGD PMID:34815954 RGD:155260314 NCBI chr13:26,254,129...26,405,238
Ensembl chr13:26,254,104...26,420,982 		JBrowse link
G CHKB choline kinase beta IAGP HPO PMID:21665002 MIM:602541 NCBI chr22:50,578,963...50,582,849
Ensembl chr22:50,578,959...50,601,455 		JBrowse link
G COL7A1 collagen type VII alpha 1 chain IAGP HPO ORPHA:79408 ORPHA:89842 NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329 		JBrowse link
G COMT catechol-O-methyltransferase IAGP ClinVar Annotator: match by term: Congestive cardiomyopathy ClinVar NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975 		JBrowse link
G COX7B cytochrome c oxidase subunit 7B IAGP HPO ORPHA:2556 NCBI chr  X:77,899,468...77,907,376
Ensembl chr  X:77,899,440...77,907,376 		JBrowse link
G CPT2 carnitine palmitoyltransferase 2 IAGP HPO MIM:600649 MIM:608836 NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197 		JBrowse link
G CRYAB crystallin alpha B IAGP HPO PMID:16483541 PMID:16793013 MIM:615184 ORPHA:154 NCBI chr11:111,908,564...111,923,740
Ensembl chr11:111,908,564...111,923,722 		JBrowse link
G CSRP3 cysteine and glycine rich protein 3 IAGP HPO PMID:12507422 MIM:607482 ORPHA:154 NCBI chr11:19,182,030...19,201,983
Ensembl chr11:19,182,030...19,210,571 		JBrowse link
G DEF6 DEF6 guanine nucleotide exchange factor IAGP HPO PMID:31308374 MIM:619573 NCBI chr 6:35,297,818...35,321,771
Ensembl chr 6:35,297,818...35,321,771 		JBrowse link
G DES desmin IAGP ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy ClinVar
HPO		 PMID:10430757 PMID:17221859 PMID:25741868 PMID:28074886 PMID:28492532 More... MIM:601419 MIM:604765 ORPHA:154 NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735 		JBrowse link
G DMD dystrophin IAGP ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE ClinVar
HPO		 PMID:8361506 PMID:25741868 PMID:28492532 PMID:34103343 MIM:302045 MIM:310200 ORPHA:154 ORPHA:206546 NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 IAGP HPO PMID:16055927 MIM:610198 ORPHA:66634 NCBI chr 3:180,983,709...180,989,838
Ensembl chr 3:180,983,697...180,989,774 		JBrowse link
G DOLK dolichol kinase IAGP HPO PMID:17273964 MIM:610768 ORPHA:154 ORPHA:91131 NCBI chr 9:128,945,530...128,947,603
Ensembl chr 9:128,945,530...128,947,603 		JBrowse link
G DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory IAGP HPO PMID:19576565 MIM:612937 ORPHA:263494 NCBI chr 1:155,139,891...155,140,531
Ensembl chr 1:155,139,891...155,140,595 		JBrowse link
G DSC2 desmocollin 2 IAGP ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE ClinVar PMID:16199547 PMID:23911551 PMID:24033266 PMID:25741868 PMID:28153106 More... NCBI chr18:31,058,840...31,102,421
Ensembl chr18:31,058,545...31,102,600 		JBrowse link
G DSG2 desmoglein 2 IAGP ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE ClinVar
HPO		 PMID:18678517 PMID:25741868 PMID:28492532 MIM:612877 ORPHA:154 NCBI chr18:31,498,177...31,549,008
Ensembl chr18:31,497,624...31,551,351 		JBrowse link
G DSG2-AS1 DSG2 antisense RNA 1 IAGP ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE ClinVar PMID:25741868 PMID:28492532 NCBI chr18:31,542,146...31,556,911
Ensembl chr18:31,542,146...31,556,948 		JBrowse link
G DSP desmoplakin IAGP ClinVar Annotator: match by term: Cardiomyopathy, Dilated
ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy
ClinVar Annotator: match by term: Dilated cardiomyopathy 		ClinVar
HPO		 PMID:9738775 PMID:16628197 PMID:20716751 PMID:24125834 PMID:24503780 More... MIM:605676 MIM:615821 ORPHA:154 ORPHA:65282 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717 		JBrowse link
G EMD emerin IAGP ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE ClinVar PMID:25741868 NCBI chr  X:154,379,295...154,381,523
Ensembl chr  X:154,379,273...154,381,574 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO PMID:11159191 MIM:208000 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
G EPG5 ectopic P-granules 5 autophagy tethering factor IAGP HPO MIM:242840 NCBI chr18:45,800,581...45,967,329
Ensembl chr18:45,800,581...45,967,329 		JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 IAGP HPO MIM:607598 NCBI chr12:56,080,108...56,103,505
Ensembl chr12:56,076,799...56,103,505 		JBrowse link
G EYA4 EYA transcriptional coactivator and phosphatase 4 IAGP HPO PMID:10769282 MIM:605362 ORPHA:217622 NCBI chr 6:133,240,593...133,532,128
Ensembl chr 6:133,240,514...133,532,128 		JBrowse link
G FHL1 four and a half LIM domains 1 IAGP HPO PMID:18274675 MIM:300718 NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359 		JBrowse link
G FHL2 four and a half LIM domains 2 IAGP HPO ORPHA:154 NCBI chr 2:105,357,712...105,438,529
Ensembl chr 2:105,357,712...105,438,513 		JBrowse link
G FKRP fukutin related protein IAGP HPO MIM:607155 ORPHA:34515 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G FKTN fukutin IAGP HPO PMID:17036286 MIM:253800 MIM:611615 ORPHA:154 ORPHA:272 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G FLII FLII actin remodeling protein IAGP HPO PMID:37561591 MIM:620635 NCBI chr17:18,244,815...18,259,022
Ensembl chr17:18,244,815...18,258,738 		JBrowse link
G FLNC filamin C IAGP ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy ClinVar PMID:25741868 NCBI chr 7:128,830,406...128,859,272
Ensembl chr 7:128,830,406...128,859,274 		JBrowse link
G GABRD gamma-aminobutyric acid type A receptor subunit delta IAGP HPO ORPHA:1606 NCBI chr 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758 		JBrowse link
G GATA5 GATA binding protein 5 IAGP HPO MIM:617912 NCBI chr20:62,463,497...62,475,995
Ensembl chr20:62,463,497...62,475,995 		JBrowse link
G GATAD1 GATA zinc finger domain containing 1 IAGP HPO PMID:21965549 MIM:614672 ORPHA:154 NCBI chr 7:92,447,482...92,495,769
Ensembl chr 7:92,447,482...92,460,075 		JBrowse link
G GET3 guided entry of tail-anchored proteins factor 3, ATPase IAGP HPO ORPHA:154 NCBI chr19:12,737,106...12,748,323
Ensembl chr19:12,737,139...12,748,323 		JBrowse link
G GJD2-DT GJD2 divergent transcript IAGP ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE ClinVar PMID:25741868 PMID:28492532 NCBI chr15:34,755,084...34,812,923
Ensembl chr15:34,755,062...34,813,505 		JBrowse link
G GLB1 galactosidase beta 1 IAGP HPO MIM:230500 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202 		JBrowse link
G GTPBP3 GTP binding protein 3, mitochondrial IAGP HPO PMID:25434004 MIM:616198 NCBI chr19:17,334,982...17,342,731
Ensembl chr19:17,334,920...17,342,731 		JBrowse link
G HADH hydroxyacyl-CoA dehydrogenase IAGP HPO MIM:231530 ORPHA:71212 NCBI chr 4:107,989,889...108,035,171
Ensembl chr 4:107,989,714...108,035,241 		JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha IAGP HPO PMID:12838198 MIM:609015 NCBI chr 2:26,190,635...26,244,632
Ensembl chr 2:26,190,635...26,244,672 		JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta IAGP HPO PMID:12754706 PMID:19699128 MIM:620300 NCBI chr 2:26,244,939...26,290,465
Ensembl chr 2:26,243,170...26,290,465 		JBrowse link
G HAMP hepcidin antimicrobial peptide IAGP HPO ORPHA:79230 NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143 		JBrowse link
G HAND2 heart and neural crest derivatives expressed 2 IAGP ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE ClinVar
HPO		 PMID:26676105 ORPHA:154 NCBI chr 4:173,526,091...173,530,229
Ensembl chr 4:173,524,969...173,530,229 		JBrowse link
G HAND2-AS1 HAND2 antisense RNA 1 IAGP ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE ClinVar PMID:26676105 NCBI chr 4:173,528,600...173,591,255
Ensembl chr 4:173,521,334...173,697,469 		JBrowse link
G HBB hemoglobin subunit beta IAGP HPO ORPHA:231214 ORPHA:231226 NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395 		JBrowse link
G HCCS holocytochrome c synthase IAGP HPO ORPHA:2556 NCBI chr  X:11,111,332...11,123,086
Ensembl chr  X:11,111,301...11,123,086 		JBrowse link
G HJV hemojuvelin BMP co-receptor IAGP HPO MIM:602390 ORPHA:79230 NCBI chr 1:146,017,470...146,021,735
Ensembl chr 1:146,017,468...146,036,746 		JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP HPO ORPHA:3287 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase IAGP HPO ORPHA:20 NCBI chr 1:23,801,885...23,825,429
Ensembl chr 1:23,801,885...23,838,620 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO ORPHA:1606 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G IL12B interleukin 12B IAGP HPO ORPHA:3287 NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,863 		JBrowse link
G JPH2 junctophilin 2 IAGP ClinVar Annotator: match by term: Cardiomyopathy, congestive ClinVar
HPO		 PMID:31227780 MIM:619492 ORPHA:154 NCBI chr20:44,106,590...44,187,188
Ensembl chr20:44,106,590...44,187,188 		JBrowse link
G JUP junction plakoglobin IAGP HPO MIM:601214 NCBI chr17:41,754,609...41,786,711
Ensembl chr17:41,754,604...41,786,931 		JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP HPO MIM:603736 NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624 		JBrowse link
G KCNAB2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 IAGP HPO ORPHA:1606 NCBI chr 1:5,992,676...6,101,180
Ensembl chr 1:5,990,927...6,101,193 		JBrowse link
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 IAGP HPO ORPHA:37553 NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044 		JBrowse link
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 IAGP HPO ORPHA:37553 NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163 		JBrowse link
G LAMA3 laminin subunit alpha 3 IAGP HPO ORPHA:79404 NCBI chr18:23,689,453...23,955,066
Ensembl chr18:23,689,453...23,956,222 		JBrowse link
G LAMA4 laminin subunit alpha 4 IAGP HPO PMID:17646580 MIM:615235 ORPHA:154 NCBI chr 6:112,107,931...112,254,985
Ensembl chr 6:112,107,931...112,254,939 		JBrowse link
G LAMB3 laminin subunit beta 3 IAGP HPO ORPHA:79404 NCBI chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425 		JBrowse link
G LAMC2 laminin subunit gamma 2 IAGP HPO ORPHA:79404 NCBI chr 1:183,186,264...183,258,968
Ensembl chr 1:183,186,238...183,245,127 		JBrowse link
G LAMP2 lysosomal associated membrane protein 2 IAGP HPO MIM:300257 ORPHA:34587 NCBI chr  X:120,426,148...120,469,349
Ensembl chr  X:120,426,148...120,469,365 		JBrowse link
G LDB3 LIM domain binding 3 IAGP ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE
ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy 		ClinVar
HPO		 PMID:14662268 PMID:17097056 PMID:17235623 PMID:17438622 PMID:19377068 More... MIM:601493 ORPHA:154 NCBI chr10:86,666,788...86,736,072
Ensembl chr10:86,666,785...86,736,072 		JBrowse link
G LIMS2 LIM zinc finger domain containing 2 IAGP HPO PMID:25589244 MIM:616827 NCBI chr 2:127,638,426...127,681,786
Ensembl chr 2:127,638,381...127,681,786 		JBrowse link
G LMNA lamin A/C IAGP ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE
ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy
ClinVar Annotator: match by term: Congestive cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy 		ClinVar
HPO		 PMID:262236 PMID:2007407 PMID:2270059 PMID:2338570 PMID:2733290 More... MIM:115200 MIM:151660 MIM:181350 MIM:212112 MIM:610140 ORPHA:154 ORPHA:168796 ORPHA:2229 ORPHA:300751 ORPHA:98853 ORPHA:98855 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G LMOD2 leiomodin 2 IAGP HPO PMID:34888509 MIM:619897 ORPHA:154 NCBI chr 7:123,655,866...123,664,290
Ensembl chr 7:123,655,866...123,664,290 		JBrowse link
G LOC110121269 VISTA enhancer hs2177 IAGP ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:38,578,362...38,581,496 JBrowse link
G LOC126805877 MED14-independent group 3 enhancer GRCh37_chr1:156099693-156100892 IAGP ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE
ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy 		ClinVar PMID:262236 PMID:11102973 PMID:11503164 PMID:12629077 PMID:12920062 More... NCBI chr 1:156,129,902...156,131,101 JBrowse link
G LOC126806421 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179407630-179408829 IAGP ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE ClinVar PMID:9536098 PMID:17576681 PMID:23975875 PMID:25589632 PMID:25741868 More... NCBI chr 2:178,542,903...178,544,102 JBrowse link
G LOC126861897 BRD4-independent group 4 enhancer GRCh37_chr14:23884455-23885654 IAGP ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30105547 PMID:34816733 NCBI chr14:23,415,246...23,416,445 JBrowse link
G LOC129931597 ATAC-STARR-seq lymphoblastoid silent region 1421 IAGP ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy
ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE 		ClinVar PMID:11138304 PMID:12920062 PMID:13129702 PMID:14985400 PMID:15060110 More... NCBI chr 1:156,114,934...156,115,023 JBrowse link
G LPL lipoprotein lipase IAGP ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE ClinVar PMID:28492532 PMID:32041611 PMID:33303402 NCBI chr 8:19,939,253...19,967,259
Ensembl chr 8:19,901,717...19,967,259 		JBrowse link
G LRP12 LDL receptor related protein 12 IAGP HPO PMID:31332380 MIM:164310 NCBI chr 8:104,489,236...104,589,258
Ensembl chr 8:104,489,231...104,589,258 		JBrowse link
G LUZP1 leucine zipper protein 1 IAGP HPO ORPHA:1606 NCBI chr 1:23,083,642...23,178,122
Ensembl chr 1:23,084,030...23,178,152 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP HPO PMID:27030597 MIM:608068 ORPHA:3243 NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633 		JBrowse link
G MGME1 mitochondrial genome maintenance exonuclease 1 IAGP HPO PMID:23313956 MIM:615084 ORPHA:352447 NCBI chr20:17,968,590...17,991,122
Ensembl chr20:17,969,018...17,991,122 		JBrowse link
G MHRT myosin heavy chain associated RNA transcript IAGP ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30105547 PMID:34816733 NCBI chr14:23,415,450...23,417,595 JBrowse link
G MLX MAX dimerization protein MLX IAGP HPO ORPHA:3287 NCBI chr17:42,567,100...42,573,203
Ensembl chr17:42,567,072...42,573,239 		JBrowse link
G MLYCD malonyl-CoA decarboxylase IAGP HPO PMID:31395333 MIM:248360 NCBI chr16:83,899,115...83,927,031
Ensembl chr16:83,899,115...83,951,445 		JBrowse link
G MMAB metabolism of cobalamin associated B IAGP HPO PMID:35712814 MIM:251110 NCBI chr12:109,553,715...109,573,504
Ensembl chr12:109,553,715...109,573,580 		JBrowse link
G MMACHC metabolism of cobalamin associated C IAGP HPO ORPHA:79282 NCBI chr 1:45,500,300...45,513,382
Ensembl chr 1:45,500,300...45,513,382 		JBrowse link
G MMP1 matrix metallopeptidase 1 IAGP HPO ORPHA:79408 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160 		JBrowse link
G MMP23B matrix metallopeptidase 23B IAGP HPO ORPHA:1606 NCBI chr 1:1,632,173...1,634,654
Ensembl chr 1:1,632,163...1,635,263 		JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP HPO ORPHA:254913 ORPHA:255210 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207 		JBrowse link
G MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 IAGP HPO ORPHA:254913 NCBI chr MT:8,366...8,572
Ensembl chr MT:8,366...8,572 		JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I IAGP HPO ORPHA:550 NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445 		JBrowse link
G MT-CO2 mitochondrially encoded cytochrome c oxidase II IAGP HPO ORPHA:550 NCBI chr MT:7,586...8,269
Ensembl chr MT:7,586...8,269 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III IAGP HPO ORPHA:550 NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP HPO ORPHA:255210 ORPHA:550 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 IAGP HPO ORPHA:255210 NCBI chr MT:4,470...5,511
Ensembl chr MT:4,470...5,511 		JBrowse link
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 IAGP HPO ORPHA:255210 NCBI chr MT:10,059...10,404
Ensembl chr MT:10,059...10,404 		JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 IAGP HPO ORPHA:255210 ORPHA:550 NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137 		JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 IAGP HPO ORPHA:255210 ORPHA:550 NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148 		JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 IAGP HPO ORPHA:255210 ORPHA:550 NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673 		JBrowse link
G MT-TF mitochondrially encoded tRNA-Phe (UUU/C) IAGP HPO ORPHA:550 NCBI chr MT:577...647
Ensembl chr MT:577...647 		JBrowse link
G MT-TH mitochondrially encoded tRNA-His (CAU/C) IAGP HPO ORPHA:550 NCBI chr MT:12,138...12,206
Ensembl chr MT:12,138...12,206 		JBrowse link
G MT-TK mitochondrially encoded tRNA-Lys (AAA/G) IAGP HPO ORPHA:1349 ORPHA:255210 NCBI chr MT:8,295...8,364
Ensembl chr MT:8,295...8,364 		JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP HPO ORPHA:255210 ORPHA:550 NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304 		JBrowse link
G MT-TQ mitochondrially encoded tRNA-Gln (CAA/G) IAGP HPO ORPHA:550 NCBI chr MT:4,329...4,400
Ensembl chr MT:4,329...4,400 		JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP HPO ORPHA:550 NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514 		JBrowse link
G MT-TS2 mitochondrially encoded tRNA-Ser (AGU/C) 2 IAGP HPO ORPHA:550 NCBI chr MT:12,207...12,265
Ensembl chr MT:12,207...12,265 		JBrowse link
G MT-TV mitochondrially encoded tRNA-Val (GUN) IAGP HPO ORPHA:255210 NCBI chr MT:1,602...1,670
Ensembl chr MT:1,602...1,670 		JBrowse link
G MT-TW mitochondrially encoded tRNA-Trp (UGA/G) IAGP HPO ORPHA:255210 ORPHA:550 NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579 		JBrowse link
G MYBPC3 myosin binding protein C3 IAGP ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE
ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy
ClinVar Annotator: match by term: Congestive cardiomyopathy 		ClinVar
HPO		 PMID:11499718 PMID:11815426 PMID:12110947 PMID:12707239 PMID:12818575 More... MIM:615396 ORPHA:154 NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702 		JBrowse link
G MYH6 myosin heavy chain 6 IAGP ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE ClinVar
HPO		 PMID:15998695 PMID:24033266 PMID:25741868 PMID:28082330 PMID:28492532 More... MIM:613252 ORPHA:154 NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273 		JBrowse link
G MYH7 myosin heavy chain 7 IAGP ClinVar Annotator: match by term: Congestive cardiomyopathy
ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy 		ClinVar
HPO		 PMID:11106718 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30105547 More... MIM:160500 MIM:255160 MIM:613426 ORPHA:154 ORPHA:59135 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
G MYL2 myosin light chain 2 IAGP HPO PMID:23365102 MIM:619424 NCBI chr12:110,910,845...110,921,449
Ensembl chr12:110,909,996...111,052,434 		JBrowse link
G MYPN myopalladin IAGP ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE
ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy 		ClinVar
HPO		 PMID:18006477 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31983221 More... MIM:615248 ORPHA:154 NCBI chr10:68,087,897...68,212,017
Ensembl chr10:68,087,897...68,212,017 		JBrowse link
G MYZAP myocardial zonula adherens protein IAGP HPO PMID:35840178 PMID:38436102 MIM:620894 NCBI chr15:57,591,904...57,685,364
Ensembl chr15:57,591,904...57,685,364 		JBrowse link
G NAXD NAD(P)HX dehydratase IAGP HPO PMID:30576410 MIM:618321 NCBI chr13:110,615,460...110,639,996
Ensembl chr13:110,615,545...110,639,996 		JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 IAGP HPO PMID:25772934 MIM:300952 ORPHA:2556 NCBI chr  X:47,142,216...47,145,491
Ensembl chr  X:47,142,071...47,145,466 		JBrowse link
G NEBL nebulette IAGP ClinVar Annotator: match by term: Congestive cardiomyopathy ClinVar NCBI chr10:20,779,973...21,293,050
Ensembl chr10:20,779,973...21,293,011 		JBrowse link
G NEXN nexilin F-actin binding protein IAGP ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE ClinVar
HPO		 PMID:19881492 PMID:25741868 PMID:28492532 MIM:613122 ORPHA:154 NCBI chr 1:77,888,624...77,943,895
Ensembl chr 1:77,888,513...77,943,895 		JBrowse link
G NFATC2 nuclear factor of activated T cells 2 IAGP ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE ClinVar NCBI chr20:51,386,963...51,562,839
Ensembl chr20:51,386,957...51,562,831 		JBrowse link
G NUP107 nucleoporin 107 IAGP HPO MIM:616730 MIM:618348 NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809 		JBrowse link
G PDPN podoplanin IAGP HPO ORPHA:1606 NCBI chr 1:13,583,757...13,617,957
Ensembl chr 1:13,583,465...13,617,957 		JBrowse link
G PGM1 phosphoglucomutase 1 IAGP HPO PMID:22492991 PMID:24499211 MIM:614921 NCBI chr 1:63,593,411...63,660,245
Ensembl chr 1:63,593,411...63,660,245 		JBrowse link
G PKP2 plakophilin 2 IAGP ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:32,790,755...32,896,777
Ensembl chr12:32,790,745...32,896,798 		JBrowse link
G PLN phospholamban IAGP HPO PMID:12610310 MIM:609909 ORPHA:154 NCBI chr 6:118,548,296...118,561,716
Ensembl chr 6:118,548,296...118,561,716 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP HPO MIM:607459 ORPHA:254892 ORPHA:70595 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit IAGP HPO ORPHA:254892 NCBI chr17:64,477,785...64,497,054
Ensembl chr17:64,477,785...64,497,054 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP HPO ORPHA:206559 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
G PPCS phosphopantothenoylcysteine synthetase IAGP HPO PMID:29754768 MIM:618189 ORPHA:154 NCBI chr 1:42,456,341...42,473,417
Ensembl chr 1:42,456,117...42,473,385 		JBrowse link
G PPP1R13L protein phosphatase 1 regulatory subunit 13 like IAGP HPO PMID:28069640 PMID:32666529 PMID:35924320 PMID:35933355 MIM:620519 NCBI chr19:45,379,638...45,406,361
Ensembl chr19:45,379,638...45,406,349 		JBrowse link
G PRDM16 PR/SET domain 16 IAGP HPO PMID:23768516 MIM:615373 ORPHA:154 ORPHA:1606 NCBI chr 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621 		JBrowse link
G PRKCZ protein kinase C zeta IAGP HPO ORPHA:1606 NCBI chr 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395 		JBrowse link
G PSEN1 presenilin 1 IAGP HPO PMID:17186461 MIM:613694 ORPHA:154 NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691 		JBrowse link
G PSEN2 presenilin 2 IAGP HPO PMID:17186461 MIM:613697 ORPHA:154 NCBI chr 1:226,870,616...226,903,668
Ensembl chr 1:226,870,184...226,927,726 		JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 IAGP HPO ORPHA:3243 NCBI chr12:6,946,577...6,961,316
Ensembl chr12:6,946,468...6,961,316 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP HPO PMID:24777450 MIM:615916 ORPHA:154 NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201 		JBrowse link
G RAPGEF5 Rap guanine nucleotide exchange factor 5 IAGP ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE ClinVar NCBI chr 7:22,118,236...22,357,154
Ensembl chr 7:22,118,236...22,357,154 		JBrowse link
G RBCK1 RANBP2-type and C3HC4-type zinc finger containing 1 IAGP HPO PMID:23104095 MIM:615895 NCBI chr20:408,299...432,139
Ensembl chr20:407,498...432,139 		JBrowse link
G RBM20 RNA binding motif protein 20 IAGP ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE
ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy 		ClinVar
HPO		 PMID:19712804 PMID:20590677 PMID:22004663 PMID:22466703 PMID:24033266 More... MIM:613172 ORPHA:154 NCBI chr10:110,643,245...110,839,468
Ensembl chr10:110,644,336...110,839,471 		JBrowse link
G RERE arginine-glutamic acid dipeptide repeats IAGP HPO ORPHA:1606 NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921 		JBrowse link
G RNF220 ring finger protein 220 IAGP HPO PMID:33964137 MIM:619688 NCBI chr 1:44,404,783...44,651,724
Ensembl chr 1:44,405,194...44,651,723 		JBrowse link
G RPL3L ribosomal protein L3 like IAGP HPO PMID:32514796 MIM:619371 ORPHA:154 NCBI chr16:1,943,974...1,954,689
Ensembl chr16:1,943,974...1,957,606 		JBrowse link
G RRAGC Ras related GTP binding C IAGP HPO PMID:37057673 MIM:620609 NCBI chr 1:38,838,198...38,859,772
Ensembl chr 1:38,838,198...38,859,772 		JBrowse link
G RRAGD Ras related GTP binding D IAGP HPO PMID:34607910 MIM:620152 NCBI chr 6:89,364,616...89,412,273
Ensembl chr 6:89,364,616...89,412,273 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP HPO ORPHA:254892 NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961 		JBrowse link
G RYR2 ryanodine receptor 2 IAGP HPO PMID:17875969 MIM:604772 NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988 		JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE ClinVar
HPO		 PMID:15466643 PMID:16712702 PMID:18508782 PMID:19716085 PMID:22581653 More... MIM:601154 ORPHA:154 NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,743 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP HPO PMID:20551992 MIM:252011 MIM:613642 ORPHA:154 NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP HPO PMID:26008905 MIM:619167 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
G SEMA3E semaphorin 3E IAGP ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE ClinVar NCBI chr 7:83,363,238...83,649,139
Ensembl chr 7:83,363,238...83,649,139 		JBrowse link
G SGCA sarcoglycan alpha IAGP HPO PMID:8538707 MIM:608099 NCBI chr17:50,166,005...50,175,928
Ensembl chr17:50,164,214...50,175,928 		JBrowse link
G SGCB sarcoglycan beta IAGP HPO MIM:604286 NCBI chr 4:52,020,706...52,038,299
Ensembl chr 4:52,020,706...52,038,299 		JBrowse link
G SGCD sarcoglycan delta IAGP ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy ClinVar
HPO		 PMID:10974018 PMID:24033266 PMID:25637381 PMID:25741868 MIM:606685 ORPHA:154 NCBI chr 5:155,727,832...156,767,788
Ensembl chr 5:155,870,344...156,767,788 		JBrowse link
G SKI SKI proto-oncogene IAGP HPO ORPHA:1606 NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213 		JBrowse link
G SLC22A5 solute carrier family 22 member 5 IAGP ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE ClinVar PMID:20074989 PMID:23520115 PMID:25741868 PMID:28492532 PMID:36343260 NCBI chr 5:132,369,710...132,395,612
Ensembl chr 5:132,369,710...132,395,613 		JBrowse link
G SLC25A4 solute carrier family 25 member 4 IAGP HPO ORPHA:254892 NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382 		JBrowse link
G SLC2A10 solute carrier family 2 member 10 IAGP HPO ORPHA:3342 NCBI chr20:46,708,320...46,736,347
Ensembl chr20:46,709,649...46,736,347 		JBrowse link
G SLC5A6 solute carrier family 5 member 6 IAGP HPO PMID:35013551 MIM:619903 NCBI chr 2:27,199,587...27,212,787
Ensembl chr 2:27,199,587...27,212,958 		JBrowse link
G SLC5A7 solute carrier family 5 member 7 IAGP ClinVar Annotator: match by term: Dilated Cardiomyopathy ClinVar PMID:27569547 PMID:28492532 NCBI chr 2:107,986,524...108,013,994
Ensembl chr 2:107,986,523...108,013,994 		JBrowse link
G SLC6A6 solute carrier family 6 member 6 IAGP HPO PMID:31903486 MIM:145350 NCBI chr 3:14,402,576...14,489,349
Ensembl chr 3:14,402,576...14,489,349 		JBrowse link
G SPEG striated muscle enriched protein kinase IAGP HPO PMID:25087613 MIM:615959 NCBI chr 2:219,434,843...219,493,629
Ensembl chr 2:219,434,843...219,493,629 		JBrowse link
G SPEN spen family transcriptional repressor IAGP HPO ORPHA:1606 NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456 		JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE ClinVar
HPO		 ORPHA:98853 NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801 		JBrowse link
G SYNE2 spectrin repeat containing nuclear envelope protein 2 IAGP HPO ORPHA:98853 NCBI chr14:63,761,596...64,226,449
Ensembl chr14:63,761,899...64,226,433 		JBrowse link
G TAF1A TATA-box binding protein associated factor, RNA polymerase I subunit A IAGP HPO ORPHA:154 NCBI chr 1:222,554,105...222,589,933
Ensembl chr 1:222,557,902...222,589,933 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase IAGP ClinVar Annotator: match by term: Congestive cardiomyopathy
ClinVar Annotator: match by term: Dilated Cardiomyopathy
ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE 		ClinVar
HPO		 PMID:10484795 PMID:11238270 PMID:21300850 PMID:24033266 PMID:25741868 More... MIM:302060 ORPHA:111 ORPHA:154 NCBI chr  X:154,411,539...154,421,726
Ensembl chr  X:154,411,524...154,421,726 		JBrowse link
G TCAP titin-cap IAGP HPO ORPHA:154 NCBI chr17:39,665,349...39,666,554
Ensembl chr17:39,665,349...39,666,554 		JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO MIM:613989 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G TKFC triokinase and FMN cyclase IAGP HPO PMID:32004446 MIM:618805 NCBI chr11:61,333,228...61,353,426
Ensembl chr11:61,333,220...61,353,295 		JBrowse link
G TMEM43 transmembrane protein 43 IAGP HPO ORPHA:98853 NCBI chr 3:14,125,052...14,143,680
Ensembl chr 3:14,125,015...14,143,680 		JBrowse link
G TMPO thymopoietin IAGP HPO ORPHA:154 NCBI chr12:98,515,573...98,550,351
Ensembl chr12:98,515,561...98,550,351 		JBrowse link
G TNNC1 troponin C1, slow skeletal and cardiac type IAGP HPO PMID:15542288 MIM:611879 ORPHA:154 NCBI chr 3:52,451,100...52,454,041
Ensembl chr 3:52,451,100...52,454,041 		JBrowse link
G TNNI3 troponin I3, cardiac type IAGP ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE ClinVar
HPO		 PMID:15070570 PMID:19590045 PMID:28492532 MIM:611880 MIM:613286 ORPHA:154 NCBI chr19:55,151,767...55,157,732
Ensembl chr19:55,151,767...55,157,773 		JBrowse link
G TNNI3K TNNI3 interacting kinase IAGP HPO PMID:24925317 MIM:616117 NCBI chr 1:74,235,387...74,544,428
Ensembl chr 1:74,235,387...74,544,428 		JBrowse link
G TNNT2 troponin T2, cardiac type IAGP HPO PMID:11106718 PMID:11684629 MIM:601494 ORPHA:154 NCBI chr 1:201,359,014...201,377,680
Ensembl chr 1:201,359,008...201,377,764 		JBrowse link
G TOP3A DNA topoisomerase III alpha IAGP HPO PMID:30057030 MIM:618097 NCBI chr17:18,271,428...18,314,994
Ensembl chr17:18,271,428...18,315,007 		JBrowse link
G TPM1 tropomyosin 1 IAGP HPO PMID:11273725 MIM:611878 ORPHA:154 NCBI chr15:63,042,747...63,071,915
Ensembl chr15:63,042,620...63,071,915 		JBrowse link
G TPM3 tropomyosin 3 IAGP HPO MIM:255310 NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648 		JBrowse link
G TRDN triadin IAGP HPO PMID:17875969 MIM:604772 NCBI chr 6:123,216,339...123,636,950
Ensembl chr 6:123,216,339...123,637,189 		JBrowse link
G TSFM Ts translation elongation factor, mitochondrial IAGP HPO MIM:610505 NCBI chr12:57,782,787...57,802,856
Ensembl chr12:57,782,761...57,808,071 		JBrowse link
G TTN titin IAGP ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE
ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy 		ClinVar
HPO		 PMID:9536098 PMID:17444505 PMID:17576681 PMID:21520333 PMID:22335739 More... MIM:604145 MIM:611705 ORPHA:154 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE
ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy 		ClinVar PMID:9536098 PMID:17576681 PMID:21520333 PMID:22335739 PMID:23418287 More... NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963 		JBrowse link
G TWNK twinkle mtDNA helicase IAGP HPO MIM:607459 ORPHA:254892 ORPHA:70595 NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403 		JBrowse link
G TXNRD2 thioredoxin reductase 2 IAGP ClinVar Annotator: match by term: Congestive cardiomyopathy ClinVar
HPO		 ORPHA:154 NCBI chr22:19,875,522...19,941,818
Ensembl chr22:19,875,517...19,941,820 		JBrowse link
G UBE4B ubiquitination factor E4B IAGP HPO ORPHA:1606 NCBI chr 1:10,032,958...10,181,239
Ensembl chr 1:10,032,832...10,181,239 		JBrowse link
G UBR1 ubiquitin protein ligase E3 component n-recognin 1 IAGP HPO MIM:243800 NCBI chr15:42,942,897...43,106,038
Ensembl chr15:42,942,897...43,106,113 		JBrowse link
G UNC45B unc-45 myosin chaperone B IAGP ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE ClinVar NCBI chr17:35,147,817...35,189,345
Ensembl chr17:35,147,817...35,189,345 		JBrowse link
G VCL vinculin IAGP HPO PMID:11815424 MIM:611407 ORPHA:154 NCBI chr10:73,998,116...74,121,363
Ensembl chr10:73,995,193...74,121,363 		JBrowse link
G VEZF1 vascular endothelial zinc finger 1 IAGP HPO PMID:36657711 MIM:620247 ORPHA:154 NCBI chr17:57,971,552...57,988,254
Ensembl chr17:57,971,547...57,988,259 		JBrowse link
G VPS13A vacuolar protein sorting 13 homolog A IAGP HPO ORPHA:2388 NCBI chr 9:77,177,534...77,421,537
Ensembl chr 9:77,177,445...77,421,537 		JBrowse link
G XK X-linked Kx blood group antigen, Kell and VPS13A binding protein IAGP HPO PMID:11761473 MIM:300842 NCBI chr  X:37,685,791...37,732,130
Ensembl chr  X:37,685,791...37,732,130 		JBrowse link
G XRCC4 X-ray repair cross complementing 4 IAGP HPO PMID:25872942 MIM:616541 NCBI chr 5:83,077,547...83,374,473
Ensembl chr 5:83,077,498...83,353,787 		JBrowse link
Histiocytoid cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COX7B cytochrome c oxidase subunit 7B IAGP HPO MIM:309801 NCBI chr  X:77,899,468...77,907,376
Ensembl chr  X:77,899,440...77,907,376 		JBrowse link
G FAM135A family with sequence similarity 135 member A IAGP ClinVar Annotator: match by term: Histiocytoid cardiomyopathy ClinVar NCBI chr 6:70,413,508...70,561,174
Ensembl chr 6:70,412,941...70,561,174 		JBrowse link
G HCCS holocytochrome c synthase IAGP HPO MIM:309801 NCBI chr  X:11,111,332...11,123,086
Ensembl chr  X:11,111,301...11,123,086 		JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP ClinVar Annotator: match by term: Histiocytoid cardiomyopathy ClinVar PMID:19188198 PMID:26803244 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207 		JBrowse link
G MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 IAGP ClinVar Annotator: match by term: Histiocytoid cardiomyopathy ClinVar PMID:19188198 PMID:26803244 NCBI chr MT:8,366...8,572
Ensembl chr MT:8,366...8,572 		JBrowse link
G MT-CYB mitochondrially encoded cytochrome b IAGP ClinVar Annotator: match by term: Oncocytic cardiomyopathy ClinVar PMID:10960495 NCBI chr MT:14,747...15,887
Ensembl chr MT:14,747...15,887 		JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 IAGP ClinVar Annotator: match by term: Myocardial or conduction system hamartoma ClinVar
HPO		 PMID:25741868 PMID:25772934 MIM:300952 MIM:309801 NCBI chr  X:47,142,216...47,145,491
Ensembl chr  X:47,142,071...47,145,466 		JBrowse link
Hypertrophic cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS2 alanyl-tRNA synthetase 2, mitochondrial IAGP HPO PMID:21549344 MIM:614096 NCBI chr 6:44,298,731...44,313,347
Ensembl chr 6:44,298,731...44,313,347 		JBrowse link
G ABCC8 ATP binding cassette subfamily C member 8 IAGP HPO ORPHA:276575 NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894 		JBrowse link
G ABCC9 ATP binding cassette subfamily C member 9 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
HPO		 PMID:17245405 PMID:25741868 PMID:28492532 ORPHA:1517 NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543 		JBrowse link
G AC106897.1 novel transcript, antisense to CCDC110 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:185,471,431...185,472,263
Ensembl chr 4:185,471,461...185,507,055 		JBrowse link
G ACAD9 acyl-CoA dehydrogenase family member 9 IAGP HPO PMID:21057504 MIM:611126 ORPHA:99901 NCBI chr 3:128,879,620...128,913,114
Ensembl chr 3:128,879,596...128,924,003 		JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain IAGP HPO PMID:4022672 MIM:201475 NCBI chr17:7,217,125...7,225,266
Ensembl chr17:7,217,125...7,225,266 		JBrowse link
G ACP2 acid phosphatase 2, lysosomal IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr11:47,239,302...47,248,814
Ensembl chr11:47,239,302...47,248,906 		JBrowse link
G ACTC1 actin alpha cardiac muscle 1 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
HPO		 PMID:676951 PMID:2255271 PMID:9536098 PMID:9563954 PMID:10330430 More... MIM:612098 NCBI chr15:34,790,230...34,795,549
Ensembl chr15:34,790,107...34,795,589 		JBrowse link
G ACTN2 actinin alpha 2 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
HPO		 PMID:17097056 PMID:20022194 PMID:23299917 PMID:23861362 PMID:24033266 More... MIM:612158 NCBI chr 1:236,686,499...236,764,631
Ensembl chr 1:236,664,141...236,764,631 		JBrowse link
G ADAR adenosine deaminase RNA specific IAGP HPO ORPHA:51 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013 		JBrowse link
G ADSS1 adenylosuccinate synthase 1 IAGP HPO ORPHA:482601 NCBI chr14:104,724,229...104,747,325
Ensembl chr14:104,724,174...104,747,325 		JBrowse link
G AGK acylglycerol kinase IAGP HPO MIM:212350 ORPHA:1369 NCBI chr 7:141,551,410...141,655,244
Ensembl chr 7:141,551,278...141,655,244 		JBrowse link
G AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 IAGP HPO ORPHA:528 NCBI chr 9:136,673,143...136,687,457
Ensembl chr 9:136,673,143...136,687,457 		JBrowse link
G AIP aryl hydrocarbon receptor interacting protein IAGP HPO ORPHA:963 ORPHA:99725 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154 		JBrowse link
G AKAP9 A-kinase anchoring protein 9 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr 7:91,940,862...92,110,673
Ensembl chr 7:91,940,840...92,110,673 		JBrowse link
G ALPK3 alpha kinase 3 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
HPO		 PMID:21441111 PMID:24033266 PMID:25741868 PMID:26846950 PMID:27106955 More... MIM:618052 NCBI chr15:84,817,356...84,873,479
Ensembl chr15:84,817,356...84,873,479 		JBrowse link
G ANK2 ankyrin 2 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:12571597 PMID:15178757 PMID:17242276 PMID:22581653 PMID:23174487 More... NCBI chr 4:112,705,622...113,383,736
Ensembl chr 4:112,818,032...113,384,221 		JBrowse link
G ANKRD1 ankyrin repeat domain 1 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:19608031 PMID:23299917 PMID:23572067 PMID:23861362 PMID:24033266 More... NCBI chr10:90,912,096...90,921,087
Ensembl chr10:90,912,096...90,921,087 		JBrowse link
G ANKRD37 ankyrin repeat domain 37 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:185,396,841...185,400,723
Ensembl chr 4:185,396,021...185,400,628 		JBrowse link
G ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 IAGP HPO PMID:23793029 MIM:615382 NCBI chr 9:98,732,009...98,796,555
Ensembl chr 9:98,731,329...98,796,965 		JBrowse link
G APH1B aph-1 homolog B, gamma-secretase subunit IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr15:63,277,605...63,309,126
Ensembl chr15:63,276,018...63,309,126 		JBrowse link
G ARFGAP2 ARF GTPase activating protein 2 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr11:47,164,301...47,176,879
Ensembl chr11:47,164,299...47,177,125 		JBrowse link
G ATAD3A ATPase family AAA domain containing 3A IAGP HPO PMID:27640307 PMID:31727539 MIM:617183 MIM:618810 ORPHA:496790 NCBI chr 1:1,512,162...1,534,685
Ensembl chr 1:1,512,162...1,534,685 		JBrowse link
G ATP5F1A ATP synthase F1 subunit alpha IAGP HPO ORPHA:254913 NCBI chr18:46,080,248...46,104,227
Ensembl chr18:46,080,248...46,104,334 		JBrowse link
G ATP5F1D ATP synthase F1 subunit delta IAGP HPO ORPHA:254913 NCBI chr19:1,241,751...1,244,825
Ensembl chr19:1,241,746...1,244,825 		JBrowse link
G ATP5F1E ATP synthase F1 subunit epsilon IAGP HPO MIM:614053 ORPHA:254913 NCBI chr20:59,025,475...59,032,335
Ensembl chr20:59,025,475...59,032,345 		JBrowse link
G ATP5MK ATP synthase membrane subunit k IAGP HPO PMID:29917077 MIM:618683 ORPHA:254913 NCBI chr10:103,389,050...103,396,475
Ensembl chr10:103,389,041...103,396,492 		JBrowse link
G ATP6V1A ATPase H+ transporting V1 subunit A IAGP HPO PMID:28065471 MIM:617403 NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056 		JBrowse link
G ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 IAGP HPO ORPHA:254913 NCBI chr17:18,015,059...18,039,168
Ensembl chr17:17,977,409...18,039,209 		JBrowse link
G BAG3 BAG cochaperone 3 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
HPO		 PMID:19085932 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 MIM:612954 NCBI chr10:119,651,380...119,677,819
Ensembl chr10:119,651,380...119,677,819 		JBrowse link
G BAZ1B bromodomain adjacent to zinc finger domain 1B IAGP HPO ORPHA:904 NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293 		JBrowse link
G BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone IAGP HPO MIM:124000 NCBI chr 2:218,658,743...218,663,443
Ensembl chr 2:218,658,764...218,663,443 		JBrowse link
G BOLA3 bolA family member 3 IAGP HPO MIM:614299 NCBI chr 2:74,135,400...74,147,912
Ensembl chr 2:74,135,400...74,147,912 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
HPO		 PMID:15240615 PMID:15723289 PMID:19206169 PMID:25741868 PMID:28492532 More... MIM:115150 MIM:163950 MIM:613706 ORPHA:1340 ORPHA:500 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G BRCA1 BRCA1 DNA repair associated IAGP HPO ORPHA:84 NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245 		JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP HPO ORPHA:84 NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G BRIP1 BRCA1 interacting DNA helicase 1 IAGP HPO ORPHA:84 NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559 		JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin IAGP HPO MIM:269700 ORPHA:528 NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845 		JBrowse link
G BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor IAGP HPO ORPHA:904 NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,597...73,698,212 		JBrowse link
G C2CD4A C2 calcium dependent domain containing 4A IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr15:62,066,977...62,070,917
Ensembl chr15:62,066,977...62,070,917 		JBrowse link
G C2CD4B C2 calcium dependent domain containing 4B IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr15:62,163,535...62,165,285
Ensembl chr15:62,163,535...62,165,285 		JBrowse link
G CA12 carbonic anhydrase 12 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr15:63,321,378...63,381,846
Ensembl chr15:63,321,378...63,381,846 		JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:20817017 PMID:22840528 PMID:23861362 PMID:24439875 PMID:25260352 More... NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950 		JBrowse link
G CACNA1C-AS1 CACNA1C antisense RNA 1 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:25637381 PMID:25741868 PMID:28492532 PMID:32145446 NCBI chr12:2,676,001...2,691,157
Ensembl chr12:2,668,500...2,812,944 		JBrowse link
G CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr10:18,140,424...18,543,557
Ensembl chr10:18,140,424...18,543,557 		JBrowse link
G CALR3 calreticulin 3 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:17655857 PMID:23861362 PMID:25741868 PMID:28492532 PMID:31513939 NCBI chr19:16,479,061...16,496,167
Ensembl chr19:16,479,061...16,496,167 		JBrowse link
G CAPNS1 calpain small subunit 1 IAGP HPO PMID:38230350 MIM:620777 NCBI chr19:36,140,066...36,150,353
Ensembl chr19:36,139,953...36,150,353 		JBrowse link
G CASR calcium sensing receptor IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:8675635 PMID:8878438 PMID:15591042 PMID:17284438 PMID:19389809 More... NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		JBrowse link
G CAV1 caveolin 1 IAGP HPO ORPHA:528 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179 		JBrowse link
G CAV3 caveolin 3 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:15580566 PMID:16770780 PMID:17060380 PMID:17210839 PMID:17275750 More... NCBI chr 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808 		JBrowse link
G CAVIN1 caveolae associated protein 1 IAGP HPO ORPHA:528 NCBI chr17:42,402,449...42,423,256
Ensembl chr17:42,402,449...42,423,256 		JBrowse link
G CBL Cbl proto-oncogene IAGP HPO ORPHA:648 NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926 		JBrowse link
G CCDC110 coiled-coil domain containing 110 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:185,445,182...185,471,733
Ensembl chr 4:185,445,182...185,471,752 		JBrowse link
G CELSR3 cadherin EGF LAG seven-pass G-type receptor 3 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chr 3:48,636,463...48,662,886
Ensembl chr 3:48,636,463...48,662,886 		JBrowse link
G CEP85L centrosomal protein 85 like IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:12639993 PMID:16235537 PMID:16432188 PMID:17655857 PMID:21167350 More... NCBI chr 6:118,460,772...118,710,089
Ensembl chr 6:118,460,772...118,710,075 		JBrowse link
G CFAP96 cilia and flagella associated protein 96 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:185,408,434...185,449,826
Ensembl chr 4:185,426,249...185,449,826 		JBrowse link
G CFAP97 cilia and flagella associated protein 97 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:185,159,665...185,210,248
Ensembl chr 4:185,159,665...185,209,504 		JBrowse link
G CLIP2 CAP-Gly domain containing linker protein 2 IAGP HPO ORPHA:904 NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935 		JBrowse link
G COA5 cytochrome c oxidase assembly factor 5 IAGP HPO PMID:21457908 MIM:616500 NCBI chr 2:98,599,314...98,608,512
Ensembl chr 2:98,599,314...98,608,515 		JBrowse link
G COA6 cytochrome c oxidase assembly factor 6 IAGP HPO PMID:25339201 MIM:616501 NCBI chr 1:234,373,456...234,385,080
Ensembl chr 1:234,373,456...234,385,080 		JBrowse link
G COA8 cytochrome c oxidase assembly factor 8 IAGP HPO ORPHA:436271 NCBI chr14:103,562,960...103,590,899
Ensembl chr14:103,562,960...103,607,523 		JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:21667357 PMID:25741868 PMID:27519266 PMID:28492532 PMID:30715774 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COQ2 coenzyme Q2, polyprenyltransferase IAGP HPO MIM:607426 NCBI chr 4:83,263,824...83,285,134
Ensembl chr 4:83,261,536...83,284,914 		JBrowse link
G COQ4 coenzyme Q4 IAGP HPO PMID:25658047 PMID:30659264 PMID:31396399 MIM:616276 NCBI chr 9:128,322,839...128,334,072
Ensembl chr 9:128,322,544...128,334,072 		JBrowse link
G COX14 cytochrome c oxidase assembly factor COX14 IAGP HPO PMID:22243966 MIM:619053 NCBI chr12:50,112,236...50,120,453
Ensembl chr12:50,112,082...50,120,457 		JBrowse link
G COX15 cytochrome c oxidase assembly homolog COX15 IAGP HPO PMID:12474143 MIM:615119 NCBI chr10:99,694,293...99,732,127
Ensembl chr10:99,710,868...99,732,127 		JBrowse link
G COX6B1 cytochrome c oxidase subunit 6B1 IAGP HPO PMID:24781756 MIM:619051 NCBI chr19:35,648,323...35,658,782
Ensembl chr19:35,648,323...35,658,782 		JBrowse link
G COX7B cytochrome c oxidase subunit 7B IAGP HPO ORPHA:2556 NCBI chr  X:77,899,468...77,907,376
Ensembl chr  X:77,899,440...77,907,376 		JBrowse link
G CPT1A carnitine palmitoyltransferase 1A IAGP HPO ORPHA:156 NCBI chr11:68,754,620...68,844,277
Ensembl chr11:68,754,620...68,844,410 		JBrowse link
G CRLS1 cardiolipin synthase 1 IAGP HPO PMID:35147173 MIM:620167 NCBI chr20:6,005,938...6,040,053
Ensembl chr20:6,006,093...6,040,053 		JBrowse link
G CRYAB crystallin alpha B IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
HPO		 PMID:1560021 PMID:2299599 PMID:16483541 PMID:16793013 PMID:17116488 More... MIM:608810 NCBI chr11:111,908,564...111,923,740
Ensembl chr11:111,908,564...111,923,722 		JBrowse link
G CSRP3 cysteine and glycine rich protein 3 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
HPO		 PMID:8994428 PMID:9039266 PMID:12507422 PMID:12642359 PMID:14567970 More... MIM:612124 NCBI chr11:19,182,030...19,201,983
Ensembl chr11:19,182,030...19,210,571 		JBrowse link
G CSRP3-AS1 CSRP3 and E2F8 antisense RNA 1 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chr11:19,196,713...19,313,258
Ensembl chr11:19,196,741...19,310,726 		JBrowse link
G CSTPP1 centriolar satellite-associated tubulin polyglutamylase complex regulator 1 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr11:46,936,689...47,164,385
Ensembl chr11:46,936,689...47,164,385 		JBrowse link
G CTF1 cardiotrophin 1 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr16:30,895,846...30,903,560
Ensembl chr16:30,896,614...30,903,547 		JBrowse link
G DDB2 damage specific DNA binding protein 2 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr11:47,214,454...47,239,217
Ensembl chr11:47,214,465...47,239,217 		JBrowse link
G DES desmin IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
HPO		 PMID:17221859 PMID:25741868 PMID:28492532 PMID:32528171 MIM:601419 NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735 		JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP HPO PMID:34349606 MIM:270400 NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868 		JBrowse link
G DLD dihydrolipoamide dehydrogenase IAGP HPO MIM:246900 NCBI chr 7:107,891,107...107,921,198
Ensembl chr 7:107,891,162...107,931,730 		JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IAGP HPO ORPHA:96334 NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224 		JBrowse link
G DMD dystrophin IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:19937601 PMID:19959795 PMID:24033266 PMID:25741868 PMID:26467025 More... NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G DNAAF3 dynein axonemal assembly factor 3 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:22876777 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr19:55,158,661...55,166,722
Ensembl chr19:55,158,661...55,166,722 		JBrowse link
G DNAAF3-AS1 DNAAF3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr19:55,159,309...55,166,904
Ensembl chr19:55,158,939...55,177,540 		JBrowse link
G DNAJB4 DnaJ heat shock protein family (Hsp40) member B4 IAGP HPO PMID:36264506 MIM:620326 NCBI chr 1:77,979,175...78,017,964
Ensembl chr 1:77,979,175...78,017,964 		JBrowse link
G DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 IAGP HPO ORPHA:904 NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453 		JBrowse link
G DSC2 desmocollin 2 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:20031617 PMID:20152563 PMID:20400443 PMID:20716751 PMID:20857253 More... NCBI chr18:31,058,840...31,102,421
Ensembl chr18:31,058,545...31,102,600 		JBrowse link
G DSG2 desmoglein 2 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:16773573 PMID:20031617 PMID:20400443 PMID:20708101 PMID:21220045 More... NCBI chr18:31,498,177...31,549,008
Ensembl chr18:31,497,624...31,551,351 		JBrowse link
G DSG2-AS1 DSG2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:16773573 PMID:20031617 PMID:20708101 PMID:24055113 PMID:25213555 More... NCBI chr18:31,542,146...31,556,911
Ensembl chr18:31,542,146...31,556,948 		JBrowse link
G DSP desmoplakin IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic 		ClinVar PMID:18632414 PMID:19863551 PMID:21062920 PMID:21397041 PMID:21606390 More... NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717 		JBrowse link
G DSP-AS1 DSP antisense RNA 1 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:7,540,451...7,543,083
Ensembl chr 6:7,539,659...7,543,119 		JBrowse link
G DTNA dystrobrevin alpha IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:25741868 PMID:28492532 PMID:30086531 PMID:31568572 NCBI chr18:34,493,312...34,891,844
Ensembl chr18:34,493,291...34,891,844 		JBrowse link
G ECHS1 enoyl-CoA hydratase, short chain 1 IAGP HPO PMID:25125611 MIM:616277 NCBI chr10:133,362,485...133,373,354
Ensembl chr10:133,362,485...133,373,354 		JBrowse link
G EIF4H eukaryotic translation initiation factor 4H IAGP HPO ORPHA:904 NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122 		JBrowse link
G ELAC2 elaC ribonuclease Z 2 IAGP HPO PMID:23849775 MIM:615440 NCBI chr17:12,991,612...13,018,027
Ensembl chr17:12,991,612...13,018,065 		JBrowse link
G ELN elastin IAGP HPO ORPHA:904 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G EMD emerin IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy HPO
ClinVar		 PMID:25741868 ORPHA:98863 NCBI chr  X:154,379,295...154,381,523
Ensembl chr  X:154,379,273...154,381,574 		JBrowse link
G EMILIN2 elastin microfibril interfacer 2 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23143600 PMID:25820463 PMID:28492532 NCBI chr18:2,846,232...2,916,003
Ensembl chr18:2,847,006...2,916,003 		JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO ORPHA:84 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348 		JBrowse link
G ETFDH electron transfer flavoprotein dehydrogenase IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:158,672,296...158,709,623
Ensembl chr 4:158,671,968...158,710,742 		JBrowse link
G EYA4 EYA transcriptional coactivator and phosphatase 4 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:133,240,593...133,532,128
Ensembl chr 6:133,240,514...133,532,128 		JBrowse link
G FAH fumarylacetoacetate hydrolase IAGP HPO MIM:276700 NCBI chr15:80,152,789...80,186,949
Ensembl chr15:80,152,490...80,186,946 		JBrowse link
G FANCA FA complementation group A IAGP HPO ORPHA:84 NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977 		JBrowse link
G FANCB FA complementation group B IAGP HPO ORPHA:84 NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255 		JBrowse link
G FANCC FA complementation group C IAGP HPO ORPHA:84 NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796 		JBrowse link
G FANCD2 FA complementation group D2 IAGP HPO ORPHA:84 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932 		JBrowse link
G FANCE FA complementation group E IAGP HPO ORPHA:84 NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104 		JBrowse link
G FANCF FA complementation group F IAGP HPO ORPHA:84 NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823 		JBrowse link
G FANCG FA complementation group G IAGP HPO ORPHA:84 NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004 		JBrowse link
G FANCI FA complementation group I IAGP HPO ORPHA:84 NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261 		JBrowse link
G FANCL FA complementation group L IAGP HPO ORPHA:84 NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410 		JBrowse link
G FANCM FA complementation group M IAGP HPO ORPHA:84 NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890 		JBrowse link
G FASTKD2 FAST kinase domains 2 IAGP HPO PMID:31944455 MIM:618855 NCBI chr 2:206,765,606...206,796,189
Ensembl chr 2:206,765,357...206,796,189 		JBrowse link
G FBXL22 F-box and leucine rich repeat protein 22 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr15:63,597,387...63,608,516
Ensembl chr15:63,597,353...63,602,428 		JBrowse link
G FBXL4 F-box and leucine rich repeat protein 4 IAGP HPO PMID:23993194 PMID:25868664 PMID:27099744 PMID:28940506 PMID:31442532 More... MIM:615471 NCBI chr 6:98,868,535...98,947,946
Ensembl chr 6:98,868,535...98,948,006 		JBrowse link
G FHL1 four and a half LIM domains 1 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
HPO		 PMID:18179888 PMID:26933038 MIM:300280 MIM:300696 ORPHA:98863 NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359 		JBrowse link
G FHOD3 formin homology 2 domain containing 3 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:24088304 PMID:25741868 PMID:28492532 PMID:30442288 PMID:38489124 NCBI chr18:36,297,713...36,780,220
Ensembl chr18:36,297,713...36,780,220 		JBrowse link
G FKBP6 FKBP prolyl isomerase family member 6 (inactive) IAGP HPO ORPHA:904 NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637 		JBrowse link
G FKRP fukutin related protein IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:11741828 PMID:16344347 PMID:16368217 PMID:16717227 PMID:17994539 More... NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G FKTN fukutin IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:18414213 PMID:22037554 PMID:25741868 PMID:28492532 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G FLNC filamin C IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
HPO		 PMID:19472918 PMID:25351925 PMID:25741868 PMID:26467025 PMID:26555887 More... MIM:617047 ORPHA:75249 NCBI chr 7:128,830,406...128,859,272
Ensembl chr 7:128,830,406...128,859,274 		JBrowse link
G FLNC-AS1 FLNC antisense RNA 1 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:31513939 NCBI chr 7:128,850,162...128,862,626
Ensembl chr 7:128,850,162...128,862,626 		JBrowse link
G FNIP1 folliculin interacting protein 1 IAGP HPO PMID:32181500 PMID:32905580 MIM:619705 NCBI chr 5:131,641,714...131,797,017
Ensembl chr 5:131,641,714...131,797,017 		JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit IAGP HPO ORPHA:528 NCBI chr14:75,278,828...75,282,230
Ensembl chr14:75,278,826...75,283,190 		JBrowse link
G FOXRED1 FAD dependent oxidoreductase domain containing 1 IAGP HPO PMID:20858599 MIM:618241 ORPHA:2609 NCBI chr11:126,269,154...126,278,126
Ensembl chr11:126,269,024...126,278,131 		JBrowse link
G FTO FTO alpha-ketoglutarate dependent dioxygenase IAGP HPO PMID:19559399 MIM:612938 NCBI chr16:53,703,963...54,121,941
Ensembl chr16:53,701,692...54,158,512 		JBrowse link
G FXN frataxin IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy HPO
ClinVar		 PMID:15936968 PMID:25741868 PMID:26467025 PMID:26704351 PMID:28082330 More... MIM:229300 NCBI chr 9:69,035,752...69,079,076
Ensembl chr 9:69,035,751...69,079,076 		JBrowse link
G GAA alpha glucosidase IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
HPO		 PMID:22644586 PMID:25741868 PMID:28492532 PMID:31228295 ORPHA:308552 NCBI chr17:80,101,581...80,119,881
Ensembl chr17:80,101,533...80,119,881 		JBrowse link
G GATA4 GATA binding protein 4 IAGP HPO ORPHA:251071 NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002 		JBrowse link
G GJA5 gap junction protein alpha 5 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362 		JBrowse link
G GJD2-DT GJD2 divergent transcript IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:676951 PMID:2255271 PMID:9536098 PMID:9563954 PMID:10494087 More... NCBI chr15:34,755,084...34,812,923
Ensembl chr15:34,755,062...34,813,505 		JBrowse link
G GLA galactosidase alpha IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
HPO		 PMID:7504405 PMID:7575533 PMID:7911050 PMID:8395937 PMID:8411052 More... ORPHA:324 NCBI chr  X:101,397,803...101,407,925
Ensembl chr  X:101,393,273...101,408,012 		JBrowse link
G GLB1 galactosidase beta 1 IAGP HPO MIM:230500 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202 		JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP HPO MIM:252500 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959 		JBrowse link
G GPD1L glycerol-3-phosphate dehydrogenase 1 like IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:15140536 PMID:17967976 PMID:19606473 PMID:19815826 PMID:22995991 More... NCBI chr 3:32,106,620...32,168,709
Ensembl chr 3:32,105,689...32,168,709 		JBrowse link
G GPR101 G protein-coupled receptor 101 IAGP HPO ORPHA:963 NCBI chr  X:137,023,929...137,033,995
Ensembl chr  X:137,023,929...137,033,995 		JBrowse link
G GPR149 G protein-coupled receptor 149 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chr 3:154,334,943...154,430,190
Ensembl chr 3:154,334,943...154,430,190 		JBrowse link
G GTF2I general transcription factor IIi IAGP HPO ORPHA:904 NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692 		JBrowse link
G GTF2IRD1 GTF2I repeat domain containing 1 IAGP HPO ORPHA:904 NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,453,790...74,602,605 		JBrowse link
G GTF2IRD2 GTF2I repeat domain containing 2 IAGP HPO ORPHA:904 NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605 		JBrowse link
G GTPBP3 GTP binding protein 3, mitochondrial IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
HPO		 PMID:25434004 PMID:25741868 PMID:30426380 PMID:34276756 PMID:35413567 MIM:616198 ORPHA:444013 NCBI chr19:17,334,982...17,342,731
Ensembl chr19:17,334,920...17,342,731 		JBrowse link
G HADH hydroxyacyl-CoA dehydrogenase IAGP HPO MIM:231530 ORPHA:71212 NCBI chr 4:107,989,889...108,035,171
Ensembl chr 4:107,989,714...108,035,241 		JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha IAGP HPO ORPHA:5 NCBI chr 2:26,190,635...26,244,632
Ensembl chr 2:26,190,635...26,244,672 		JBrowse link
G HCCS holocytochrome c synthase IAGP HPO ORPHA:2556 NCBI chr  X:11,111,332...11,123,086
Ensembl chr  X:11,111,301...11,123,086 		JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:24607718 PMID:25145518 PMID:25145519 PMID:25642760 More... NCBI chr15:73,319,859...73,368,958
Ensembl chr15:73,319,859...73,368,958 		JBrowse link
G HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr15:63,608,618...63,833,948
Ensembl chr15:63,608,618...63,833,948 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP HPO MIM:218040 ORPHA:3071 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 IAGP HPO MIM:300438 ORPHA:391428 ORPHA:391457 NCBI chr  X:53,431,258...53,434,376
Ensembl chr  X:53,431,258...53,434,370 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO PMID:24686847 MIM:615846 ORPHA:51 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
G INSR insulin receptor IAGP HPO PMID:24498630 MIM:246200 ORPHA:508 NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414 		JBrowse link
G JPH2 junctophilin 2 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
HPO		 PMID:9536098 PMID:17476457 PMID:17509612 PMID:17576681 PMID:22584458 More... MIM:613873 NCBI chr20:44,106,590...44,187,188
Ensembl chr20:44,106,590...44,187,188 		JBrowse link
G JUP junction plakoglobin IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr17:41,754,609...41,786,711
Ensembl chr17:41,754,604...41,786,931 		JBrowse link
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:24217263 PMID:28492532 PMID:38816749 NCBI chr21:34,446,688...34,512,210
Ensembl chr21:34,446,688...34,512,214 		JBrowse link
G KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:10220144 PMID:15368194 PMID:15840476 PMID:18006462 PMID:20817017 More... NCBI chr21:34,364,006...34,371,381
Ensembl chr21:34,180,729...34,371,381 		JBrowse link
G KCNH2 potassium voltage-gated channel subfamily H member 2 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:19716085 PMID:22581653 PMID:24033266 PMID:25637381 PMID:25741868 More... NCBI chr 7:150,944,961...150,978,321
Ensembl chr 7:150,944,961...150,978,321 		JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 IAGP HPO ORPHA:276580 NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331 		JBrowse link
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044 		JBrowse link
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163 		JBrowse link
G KCNJ8 potassium inwardly rectifying channel subfamily J member 8 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
HPO		 PMID:19120683 PMID:20558321 PMID:22056721 PMID:22365152 PMID:22562657 More... ORPHA:1517 NCBI chr12:21,764,955...21,774,706
Ensembl chr12:21,764,955...21,775,600 		JBrowse link
G KCNJ8-AS1 KCNJ8 antisense RNA 1 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:17245405 PMID:19120683 PMID:20558321 PMID:22056721 PMID:22365152 More... NCBI chr12:21,662,313...21,829,261 JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:19716085 PMID:22581653 PMID:23396983 PMID:24033266 PMID:24055113 More... NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105 		JBrowse link
G KIF20A kinesin family member 20A IAGP HPO ORPHA:75249 NCBI chr 5:138,179,112...138,187,723
Ensembl chr 5:138,178,719...138,187,723 		JBrowse link
G KLF1 KLF transcription factor 1 IAGP HPO PMID:21055716 MIM:613673 NCBI chr19:12,884,422...12,887,201
Ensembl chr19:12,884,422...12,887,201 		JBrowse link
G KLHL24 kelch like family member 24 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:27889062 PMID:30715372 NCBI chr 3:183,635,623...183,684,519
Ensembl chr 3:183,635,610...183,684,519 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO PMID:16474405 PMID:17056636 MIM:600268 MIM:609942 ORPHA:1340 ORPHA:648 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LACTB lactamase beta IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr15:63,121,861...63,142,061
Ensembl chr15:63,121,833...63,142,061 		JBrowse link
G LAMA2 laminin subunit alpha 2 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566 		JBrowse link
G LAMA4 laminin subunit alpha 4 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:112,107,931...112,254,985
Ensembl chr 6:112,107,931...112,254,939 		JBrowse link
G LAMP2 lysosomal associated membrane protein 2 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
HPO		 PMID:9536098 PMID:15253947 PMID:15673802 PMID:16199547 PMID:16217705 More... MIM:300257 ORPHA:34587 NCBI chr  X:120,426,148...120,469,349
Ensembl chr  X:120,426,148...120,469,365 		JBrowse link
G LDB3 LIM domain binding 3 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:17235623 PMID:17394203 PMID:17438622 PMID:20474083 PMID:23299917 More... NCBI chr10:86,666,788...86,736,072
Ensembl chr10:86,666,785...86,736,072 		JBrowse link
G LIAS lipoic acid synthetase IAGP HPO PMID:22152680 MIM:614462 NCBI chr 4:39,459,056...39,479,506
Ensembl chr 4:39,459,004...39,485,109 		JBrowse link
G LIMK1 LIM domain kinase 1 IAGP HPO ORPHA:904 NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525 		JBrowse link
G LMNA lamin A/C IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
HPO		 PMID:2338570 PMID:2753225 PMID:23183350 PMID:23328570 PMID:24033266 More... ORPHA:2348 ORPHA:280365 ORPHA:98853 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G LOC105370890 uncharacterized LOC105370890 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chr15:73,335,260...73,345,184
Ensembl chr15:73,335,260...73,342,387 		JBrowse link
G LOC105372791 uncharacterized LOC105372791 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:10220144 PMID:15368194 PMID:15840476 PMID:18006462 PMID:20817017 More... NCBI chr21:34,353,006...34,375,362 JBrowse link
G LOC108353820 JPH2 intron CAGE-defined T cell enhancer IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr20:44,153,318...44,154,567 JBrowse link
G LOC110121269 VISTA enhancer hs2177 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:10807545 PMID:15689442 PMID:15851227 PMID:16155735 PMID:17227473 More... NCBI chr 3:38,578,362...38,581,496 JBrowse link
G LOC114827850 VISTA enhancer hs2149 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:203862 PMID:08673105 PMID:9535554 PMID:9724616 PMID:10948063 More... NCBI chr12:110,918,953...110,921,387 JBrowse link
G LOC114827851 VISTA enhancer hs2155 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28416588 PMID:28492532 NCBI chr14:23,404,568...23,409,443 JBrowse link
G LOC121056754 OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:186239748-186240413 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:185,318,594...185,319,259 JBrowse link
G LOC121853007 Sharpr-MPRA regulatory region 3924 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr20:44,116,649...44,116,943 JBrowse link
G LOC122128420 Sharpr-MPRA regulatory region 3144 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chr 1:147,758,381...147,758,675 JBrowse link
G LOC123493248 Sharpr-MPRA regulatory region 940 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:185,293,995...185,294,289 JBrowse link
G LOC123493249 OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:186227325-186227825 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:185,306,171...185,306,671 JBrowse link
G LOC123493250 Sharpr-MPRA regulatory region 8879 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:185,457,155...185,457,449 JBrowse link
G LOC125371495 Sharpr-MPRA regulatory region 9511 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:32722639 NCBI chr19:19,526,080...19,526,374 JBrowse link
G LOC126806067 BRD4-independent group 4 enhancer GRCh37_chr1:237753258-237754457 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:31513939 NCBI chr 1:237,589,958...237,591,157 JBrowse link
G LOC126806068 BRD4-independent group 4 enhancer GRCh37_chr1:237947411-237948610 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25351510 PMID:25741868 PMID:28492532 PMID:31513939 NCBI chr 1:237,784,111...237,785,310 JBrowse link
G LOC126806420 BRD4-independent group 4 enhancer GRCh37_chr2:179401104-179402303 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23396983 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28045975 More... NCBI chr 2:178,536,377...178,537,576 JBrowse link
G LOC126806422 BRD4-independent group 4 enhancer GRCh37_chr2:179440205-179441404 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:178,575,478...178,576,677 JBrowse link
G LOC126806424 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179456337-179457536 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chr 2:178,591,610...178,592,809 JBrowse link
G LOC126806426 BRD4-independent group 4 enhancer GRCh37_chr2:179478848-179480047 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:178,614,121...178,615,320 JBrowse link
G LOC126806427 BRD4-independent group 4 enhancer GRCh37_chr2:179485777-179486976 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:24503780 PMID:25741868 PMID:28492532 NCBI chr 2:178,621,050...178,622,249 JBrowse link
G LOC126806428 BRD4-independent group 4 enhancer GRCh37_chr2:179588362-179589561 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chr 2:178,723,635...178,724,834 JBrowse link
G LOC126806429 BRD4-independent group 4 enhancer GRCh37_chr2:179591393-179592592 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chr 2:178,726,666...178,727,865 JBrowse link
G LOC126806431 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179595719-179596918 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23396983 PMID:25741868 PMID:28045975 PMID:28492532 NCBI chr 2:178,730,992...178,732,191 JBrowse link
G LOC126806433 BRD4-independent group 4 enhancer GRCh37_chr2:179638309-179639508 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:178,773,582...178,774,781 JBrowse link
G LOC126807136 MED14-independent group 3 enhancer GRCh37_chr4:114274931-114276130 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chr 4:113,353,775...113,354,974 JBrowse link
G LOC126807246 BRD4-independent group 4 enhancer GRCh37_chr4:186434842-186436041 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:9536098 PMID:17254821 PMID:17576681 PMID:24033266 PMID:25741868 More... NCBI chr 4:185,513,688...185,514,887 JBrowse link
G LOC126861896 BRD4-independent group 4 enhancer GRCh37_chr14:23854904-23856103 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25351510 PMID:25741868 PMID:27600940 PMID:28492532 More... NCBI chr14:23,385,695...23,386,894 JBrowse link
G LOC126861897 BRD4-independent group 4 enhancer GRCh37_chr14:23884455-23885654 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:564455 PMID:9536098 PMID:11968089 PMID:12707239 PMID:12881443 More... NCBI chr14:23,415,246...23,416,445 JBrowse link
G LOC126861898 BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:319790 PMID:623675 PMID:823477 PMID:996382 PMID:1400509 More... NCBI chr14:23,424,400...23,425,599 JBrowse link
G LOC126862173 CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:73635762-73636961 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chr15:73,343,421...73,344,620 JBrowse link
G LOC129993502 ATAC-STARR-seq lymphoblastoid active region 22248 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:185,204,843...185,204,952 JBrowse link
G LOC129993503 ATAC-STARR-seq lymphoblastoid active region 22249 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:185,205,063...185,205,152 JBrowse link
G LOC129993504 ATAC-STARR-seq lymphoblastoid silent region 15849 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:185,209,297...185,209,876 JBrowse link
G LOC129993505 ATAC-STARR-seq lymphoblastoid silent region 15850 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:185,209,987...185,210,146 JBrowse link
G LOC129993506 ATAC-STARR-seq lymphoblastoid silent region 15851 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:185,210,217...185,210,406 JBrowse link
G LOC129993507 ATAC-STARR-seq lymphoblastoid active region 22250 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:185,213,880...185,214,199 JBrowse link
G LOC129993508 ATAC-STARR-seq lymphoblastoid active region 22251 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:185,303,813...185,303,912 JBrowse link
G LOC129993509 ATAC-STARR-seq lymphoblastoid active region 22252 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:185,304,801...185,304,990 JBrowse link
G LOC129993510 ATAC-STARR-seq lymphoblastoid active region 22253 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:185,306,026...185,306,085 JBrowse link
G LOC129993511 ATAC-STARR-seq lymphoblastoid active region 22254 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:185,309,593...185,309,952 JBrowse link
G LOC129993512 ATAC-STARR-seq lymphoblastoid active region 22255 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:185,310,542...185,310,591 JBrowse link
G LOC129993513 ATAC-STARR-seq lymphoblastoid active region 22256 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:185,310,622...185,310,671 JBrowse link
G LOC129993514 ATAC-STARR-seq lymphoblastoid silent region 15852 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:185,329,775...185,329,824 JBrowse link
G LOC129993515 ATAC-STARR-seq lymphoblastoid silent region 15853 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:185,329,835...185,330,034 JBrowse link
G LOC129993516 ATAC-STARR-seq lymphoblastoid active region 22257 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:185,341,755...185,341,804 JBrowse link
G LOC129993517 ATAC-STARR-seq lymphoblastoid active region 22258 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:185,342,185...185,342,304 JBrowse link
G LOC129993518 ATAC-STARR-seq lymphoblastoid silent region 15854 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:185,396,047...185,396,236 JBrowse link
G LOC129993519 ATAC-STARR-seq lymphoblastoid active region 22259 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:185,396,357...185,396,426 JBrowse link
G LOC129993520 ATAC-STARR-seq lymphoblastoid silent region 15855 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:185,396,457...185,396,826 JBrowse link
G LOC129993521 ATAC-STARR-seq lymphoblastoid active region 22260 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:185,425,728...185,425,837 JBrowse link
G LOC129993522 ATAC-STARR-seq lymphoblastoid active region 22261 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:185,425,908...185,426,267 JBrowse link
G LOC129993523 ATAC-STARR-seq lymphoblastoid silent region 15856 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:185,471,318...185,471,947 JBrowse link
G LOC130001862 ATAC-STARR-seq lymphoblastoid silent region 19931 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:15936968 PMID:25741868 PMID:26467025 PMID:26704351 PMID:28082330 More... NCBI chr 9:69,035,641...69,036,110 JBrowse link
G LOC130058878 ATAC-STARR-seq lymphoblastoid silent region 7400 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr16:30,902,026...30,902,525 JBrowse link
G LOC130062385 ATAC-STARR-seq lymphoblastoid silent region 9404 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:24088304 PMID:25741868 NCBI chr18:36,297,886...36,297,955 JBrowse link
G LOC130065089 ATAC-STARR-seq lymphoblastoid active region 15077 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr19:55,141,272...55,141,331 JBrowse link
G LOC130065090 ATAC-STARR-seq lymphoblastoid silent region 11016 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr19:55,160,627...55,160,736 JBrowse link
G LOC130065091 ATAC-STARR-seq lymphoblastoid active region 15078 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr19:55,179,755...55,179,834 JBrowse link
G LOC130065092 ATAC-STARR-seq lymphoblastoid active region 15079 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr19:55,251,576...55,251,725 JBrowse link
G LOC130065093 ATAC-STARR-seq lymphoblastoid active region 15080 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr19:55,253,618...55,253,697 JBrowse link
G LOC130065094 ATAC-STARR-seq lymphoblastoid active region 15081 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr19:55,253,928...55,254,147 JBrowse link
G LOC130065095 ATAC-STARR-seq lymphoblastoid active region 15082 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr19:55,254,158...55,254,267 JBrowse link
G LOC130065096 ATAC-STARR-seq lymphoblastoid active region 15083 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr19:55,254,668...55,254,807 JBrowse link
G LOC130065097 ATAC-STARR-seq lymphoblastoid active region 15084 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr19:55,255,108...55,255,157 JBrowse link
G LPIN2 lipin 2 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23143600 PMID:25820463 PMID:28492532 NCBI chr18:2,916,994...3,013,144
Ensembl chr18:2,885,296...3,013,144 		JBrowse link
G LRP12 LDL receptor related protein 12 IAGP HPO PMID:32493488 MIM:164310 NCBI chr 8:104,489,236...104,589,258
Ensembl chr 8:104,489,231...104,589,258 		JBrowse link
G LRP2BP LRP2 binding protein IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:185,363,872...185,397,287
Ensembl chr 4:185,363,872...185,395,924 		JBrowse link
G LRP4 LDL receptor related protein 4 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642 		JBrowse link
G LRPPRC leucine rich pentatricopeptide repeat containing IAGP HPO PMID:26510951 MIM:220111 ORPHA:70472 NCBI chr 2:43,886,224...43,996,265
Ensembl chr 2:43,886,224...43,996,226 		JBrowse link
G LSM11 LSM11, U7 small nuclear RNA associated IAGP HPO ORPHA:51 NCBI chr 5:157,743,712...157,760,709
Ensembl chr 5:157,743,712...157,760,709 		JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 IAGP HPO PMID:29469822 PMID:30368668 MIM:605275 MIM:616564 ORPHA:648 NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032 		JBrowse link
G MAD2L2 mitotic arrest deficient 2 like 2 IAGP HPO ORPHA:84 NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,657,230...11,691,811 		JBrowse link
G MADD MAP kinase activating death domain IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr11:47,269,188...47,330,031
Ensembl chr11:47,269,161...47,330,031 		JBrowse link
G MADD-AS1 MADD antisense RNA 1 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr11:47,270,657...47,272,110
Ensembl chr11:47,270,657...47,272,110 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 IAGP HPO PMID:15240615 PMID:15723289 PMID:18042262 PMID:32164556 MIM:163950 MIM:615279 ORPHA:1340 NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656 		JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
HPO		 PMID:24033266 PMID:25741868 PMID:28492532 ORPHA:1340 ORPHA:638 NCBI chr19:4,090,321...4,124,122
Ensembl chr19:4,090,321...4,124,122 		JBrowse link
G MASP1 MBL associated serine protease 1 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chr 3:187,217,282...187,291,737
Ensembl chr 3:187,217,282...187,291,980 		JBrowse link
G MC2R melanocortin 2 receptor IAGP HPO ORPHA:361 NCBI chr18:13,882,044...13,915,707
Ensembl chr18:13,882,044...13,915,707 		JBrowse link
G MEG3 maternally expressed 3 IAGP HPO ORPHA:96334 NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,206...100,861,031 		JBrowse link
G MEN1 menin 1 IAGP HPO ORPHA:99725 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G METTL27 methyltransferase like 27 IAGP HPO ORPHA:904 NCBI chr 7:73,834,590...73,842,516
Ensembl chr 7:73,834,590...73,842,516 		JBrowse link
G MHRT myosin heavy chain associated RNA transcript IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:564455 PMID:737223 PMID:901918 PMID:1199839 PMID:9536098 More... NCBI chr14:23,415,450...23,417,595 JBrowse link
G MICOS13 mitochondrial contact site and cristae organizing system subunit 13 IAGP HPO PMID:27485409 MIM:618329 NCBI chr19:5,678,422...5,680,516
Ensembl chr19:5,678,421...5,680,516 		JBrowse link
G MIPEP mitochondrial intermediate peptidase IAGP HPO PMID:27799064 MIM:617228 NCBI chr13:23,730,189...23,889,400
Ensembl chr13:23,730,189...23,889,400 		JBrowse link
G MIR208A microRNA 208a IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr14:23,388,596...23,388,666
Ensembl chr14:23,388,596...23,388,666 		JBrowse link
G MIR208B microRNA 208b IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:27247418 PMID:28492532 PMID:29121657 PMID:31638223 NCBI chr14:23,417,987...23,418,063
Ensembl chr14:23,417,987...23,418,063 		JBrowse link
G MIR6802 microRNA 6802 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr19:55,239,912...55,239,976
Ensembl chr19:55,239,912...55,239,976 		JBrowse link
G MIR6803 microRNA 6803 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr19:55,245,186...55,245,250
Ensembl chr19:55,245,186...55,245,250 		JBrowse link
G MIR6804 microRNA 6804 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr19:55,230,885...55,230,952
Ensembl chr19:55,230,885...55,230,952 		JBrowse link
G MRAP melanocortin 2 receptor accessory protein IAGP HPO ORPHA:361 NCBI chr21:32,291,813...32,314,784
Ensembl chr21:32,291,813...32,314,784 		JBrowse link
G MRAS muscle RAS oncogene homolog IAGP HPO PMID:28289718 PMID:31173466 MIM:618499 ORPHA:648 NCBI chr 3:138,347,648...138,405,535
Ensembl chr 3:138,347,648...138,405,534 		JBrowse link
G MRPL3 mitochondrial ribosomal protein L3 IAGP HPO PMID:27815843 MIM:614582 NCBI chr 3:131,462,212...131,502,971
Ensembl chr 3:131,462,212...131,502,983 		JBrowse link
G MRPL39 mitochondrial ribosomal protein L39 IAGP HPO PMID:37133451 MIM:620646 NCBI chr21:25,585,656...25,607,859
Ensembl chr21:25,585,656...25,607,517 		JBrowse link
G MRPL44 mitochondrial ribosomal protein L44 IAGP HPO PMID:23315540 MIM:615395 NCBI chr 2:223,950,854...223,967,714
Ensembl chr 2:223,957,463...223,967,714 		JBrowse link
G MRPS14 mitochondrial ribosomal protein S14 IAGP HPO PMID:30358850 MIM:618378 NCBI chr 1:175,012,958...175,023,425
Ensembl chr 1:175,010,789...175,023,425 		JBrowse link
G MRPS22 mitochondrial ribosomal protein S22 IAGP HPO MIM:611719 NCBI chr 3:139,343,994...139,357,140
Ensembl chr 3:139,005,806...139,360,497 		JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP HPO ORPHA:254913 ORPHA:255210 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207 		JBrowse link
G MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 IAGP HPO ORPHA:254913 NCBI chr MT:8,366...8,572
Ensembl chr MT:8,366...8,572 		JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I IAGP HPO ORPHA:550 NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445 		JBrowse link
G MT-CO2 mitochondrially encoded cytochrome c oxidase II IAGP HPO ORPHA:550 NCBI chr MT:7,586...8,269
Ensembl chr MT:7,586...8,269 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III IAGP HPO ORPHA:550 NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP HPO ORPHA:255210 ORPHA:2609 ORPHA:550 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 IAGP HPO ORPHA:255210 ORPHA:2609 NCBI chr MT:4,470...5,511
Ensembl chr MT:4,470...5,511 		JBrowse link
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 IAGP HPO ORPHA:255210 ORPHA:2609 NCBI chr MT:10,059...10,404
Ensembl chr MT:10,059...10,404 		JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 IAGP HPO ORPHA:255210 ORPHA:550 NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137 		JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 IAGP HPO ORPHA:255210 ORPHA:550 NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148 		JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 IAGP HPO ORPHA:255210 ORPHA:550 NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673 		JBrowse link
G MT-TF mitochondrially encoded tRNA-Phe (UUU/C) IAGP HPO ORPHA:550 NCBI chr MT:577...647
Ensembl chr MT:577...647 		JBrowse link
G MT-TH mitochondrially encoded tRNA-His (CAU/C) IAGP HPO ORPHA:550 NCBI chr MT:12,138...12,206
Ensembl chr MT:12,138...12,206 		JBrowse link
G MT-TK mitochondrially encoded tRNA-Lys (AAA/G) IAGP HPO ORPHA:1349 ORPHA:255210 NCBI chr MT:8,295...8,364
Ensembl chr MT:8,295...8,364 		JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
HPO		 PMID:1284550 PMID:1315123 PMID:1323207 PMID:1360090 PMID:1454794 More... ORPHA:255210 ORPHA:550 NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304 		JBrowse link
G MT-TN mitochondrially encoded tRNA-Asn (AAU/C) IAGP HPO MIM:220110 NCBI chr MT:5,657...5,729
Ensembl chr MT:5,657...5,729 		JBrowse link
G MT-TQ mitochondrially encoded tRNA-Gln (CAA/G) IAGP HPO ORPHA:550 NCBI chr MT:4,329...4,400
Ensembl chr MT:4,329...4,400 		JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP HPO MIM:220110 ORPHA:550 NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514 		JBrowse link
G MT-TS2 mitochondrially encoded tRNA-Ser (AGU/C) 2 IAGP HPO ORPHA:550 NCBI chr MT:12,207...12,265
Ensembl chr MT:12,207...12,265 		JBrowse link
G MT-TV mitochondrially encoded tRNA-Val (GUN) IAGP HPO ORPHA:255210 NCBI chr MT:1,602...1,670
Ensembl chr MT:1,602...1,670 		JBrowse link
G MT-TW mitochondrially encoded tRNA-Trp (UGA/G) IAGP HPO ORPHA:255210 ORPHA:550 NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579 		JBrowse link
G MTO1 mitochondrial tRNA translation optimization 1 IAGP HPO PMID:22608499 MIM:614702 NCBI chr 6:73,461,737...73,509,236
Ensembl chr 6:73,461,578...73,509,236 		JBrowse link
G MYBPC3 myosin binding protein C3 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
HPO		 PMID:198863 PMID:203962 PMID:203979 PMID:208206 PMID:208208 More... MIM:115197 NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702 		JBrowse link
G MYBPHL myosin binding protein H like IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chr 1:109,292,365...109,307,011
Ensembl chr 1:109,292,365...109,307,011 		JBrowse link
G MYH6 myosin heavy chain 6 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
HPO		 PMID:11815426 PMID:15998695 PMID:20215591 PMID:20656787 PMID:22011241 More... MIM:613251 NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273 		JBrowse link
G MYH7 myosin heavy chain 7 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
HPO		 PMID:1975 PMID:177788 PMID:199274 PMID:204029 PMID:319790 More... MIM:255160 MIM:608358 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
G MYH7B myosin heavy chain 7B IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:16938236 PMID:23800289 PMID:25741868 PMID:32207065 NCBI chr20:34,955,868...35,002,437
Ensembl chr20:34,955,810...35,002,437 		JBrowse link
G MYL12A myosin light chain 12A IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23143600 PMID:25820463 PMID:28492532 NCBI chr18:3,247,482...3,256,237
Ensembl chr18:3,247,481...3,256,236 		JBrowse link
G MYL12B myosin light chain 12B IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23143600 PMID:25820463 PMID:28492532 NCBI chr18:3,262,133...3,278,461
Ensembl chr18:3,261,479...3,278,461 		JBrowse link
G MYL2 myosin light chain 2 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
HPO		 PMID:203862 PMID:8673105 PMID:9535554 PMID:9536098 PMID:9724616 More... MIM:608758 MIM:619424 NCBI chr12:110,910,845...110,921,449
Ensembl chr12:110,909,996...111,052,434 		JBrowse link
G MYL3 myosin light chain 3 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
HPO		 PMID:2938653 PMID:6211078 PMID:8673105 PMID:9536098 PMID:9927691 More... MIM:608751 NCBI chr 3:46,857,872...46,882,182
Ensembl chr 3:46,835,110...46,882,178 		JBrowse link
G MYLK2 myosin light chain kinase 2 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31513939 NCBI chr20:31,819,356...31,834,684
Ensembl chr20:31,819,308...31,834,689 		JBrowse link
G MYOM1 myomesin 1 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 More... NCBI chr18:3,066,807...3,247,376
Ensembl chr18:3,066,807...3,219,968 		JBrowse link
G MYOZ2 myozenin 2 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
HPO		 PMID:9536098 PMID:16199547 PMID:17347475 PMID:17434779 PMID:17576681 More... MIM:613838 NCBI chr 4:119,135,832...119,187,789
Ensembl chr 4:119,135,832...119,187,789 		JBrowse link
G MYPN myopalladin IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
HPO		 PMID:18006477 PMID:20801532 PMID:22286171 PMID:23861362 PMID:24033266 More... MIM:615248 ORPHA:75249 NCBI chr10:68,087,897...68,212,017
Ensembl chr10:68,087,897...68,212,017 		JBrowse link
G NAGA alpha-N-acetylgalactosaminidase IAGP HPO ORPHA:79279 ORPHA:79281 NCBI chr22:42,058,334...42,070,842
Ensembl chr22:42,058,334...42,070,842 		JBrowse link
G NCF1 neutrophil cytosolic factor 1 IAGP HPO ORPHA:904 NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315 		JBrowse link
G NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 IAGP HPO ORPHA:2609 NCBI chr  X:119,871,832...119,876,662
Ensembl chr  X:119,871,832...119,876,662 		JBrowse link
G NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 IAGP HPO PMID:21150889 MIM:618243 NCBI chr 2:239,892,442...240,025,342
Ensembl chr 2:239,892,450...240,025,743 		JBrowse link
G NDUFA11 NADH:ubiquinone oxidoreductase subunit A11 IAGP HPO PMID:18306244 MIM:618236 ORPHA:2609 NCBI chr19:5,891,229...5,903,790
Ensembl chr19:5,891,207...5,904,006 		JBrowse link
G NDUFA13 NADH:ubiquinone oxidoreductase subunit A13 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:32722639 NCBI chr19:19,516,225...19,528,198
Ensembl chr19:19,515,736...19,529,054 		JBrowse link
G NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 IAGP HPO PMID:18513682 MIM:618235 NCBI chr 5:140,645,285...140,647,630
Ensembl chr 5:140,638,740...140,647,771 		JBrowse link
G NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 IAGP HPO ORPHA:2609 NCBI chr22:42,085,526...42,090,772
Ensembl chr22:42,085,526...42,090,884 		JBrowse link
G NDUFAF1 NADH:ubiquinone oxidoreductase complex assembly factor 1 IAGP HPO PMID:17557076 MIM:618234 ORPHA:2609 NCBI chr15:41,387,353...41,403,026
Ensembl chr15:41,387,218...41,409,403 		JBrowse link
G NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 IAGP HPO ORPHA:2609 NCBI chr 5:60,945,205...61,153,026
Ensembl chr 5:60,945,177...61,154,531 		JBrowse link
G NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 IAGP HPO ORPHA:2609 NCBI chr 3:49,020,452...49,023,495
Ensembl chr 3:49,020,459...49,023,495 		JBrowse link
G NDUFAF4 NADH:ubiquinone oxidoreductase complex assembly factor 4 IAGP HPO PMID:18179882 MIM:618237 ORPHA:2609 NCBI chr 6:96,889,315...96,897,891
Ensembl chr 6:96,889,315...96,897,891 		JBrowse link
G NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 IAGP HPO ORPHA:2609 NCBI chr20:13,785,028...13,821,580
Ensembl chr20:13,785,007...13,821,580 		JBrowse link
G NDUFAF8 NADH:ubiquinone oxidoreductase complex assembly factor 8 IAGP HPO ORPHA:2609 NCBI chr17:81,239,311...81,241,310
Ensembl chr17:81,239,305...81,241,310 		JBrowse link
G NDUFB10 NADH:ubiquinone oxidoreductase subunit B10 IAGP HPO ORPHA:2609 NCBI chr16:1,959,538...1,961,975
Ensembl chr16:1,959,538...1,961,975 		JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 IAGP HPO ORPHA:2556 ORPHA:2609 NCBI chr  X:47,142,216...47,145,491
Ensembl chr  X:47,142,071...47,145,466 		JBrowse link
G NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 IAGP HPO ORPHA:2609 NCBI chr 2:201,072,001...201,085,750
Ensembl chr 2:201,071,433...201,085,750 		JBrowse link
G NDUFB7 NADH:ubiquinone oxidoreductase subunit B7 IAGP HPO PMID:33502047 MIM:620135 NCBI chr19:14,566,078...14,572,066
Ensembl chr19:14,566,078...14,572,066 		JBrowse link
G NDUFB9 NADH:ubiquinone oxidoreductase subunit B9 IAGP HPO ORPHA:2609 NCBI chr 8:124,539,123...124,549,979
Ensembl chr 8:124,539,101...124,580,648 		JBrowse link
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 IAGP HPO ORPHA:2609 NCBI chr 2:206,114,817...206,159,444
Ensembl chr 2:206,114,817...206,159,509 		JBrowse link
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 IAGP HPO PMID:11220739 MIM:618228 ORPHA:2609 NCBI chr 1:161,197,417...161,214,395
Ensembl chr 1:161,197,104...161,214,723 		JBrowse link
G NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 IAGP HPO ORPHA:2609 NCBI chr11:47,579,074...47,584,562
Ensembl chr11:47,565,336...47,584,562 		JBrowse link
G NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 IAGP HPO PMID:11181577 MIM:252010 ORPHA:2609 NCBI chr 5:53,560,639...53,683,338
Ensembl chr 5:53,560,633...53,683,338 		JBrowse link
G NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 IAGP HPO ORPHA:2609 NCBI chr 5:1,801,407...1,816,048
Ensembl chr 5:1,801,407...1,816,048 		JBrowse link
G NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 IAGP HPO ORPHA:2609 NCBI chr19:1,383,907...1,395,584
Ensembl chr19:1,383,527...1,395,589 		JBrowse link
G NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 IAGP HPO MIM:618222 ORPHA:2609 NCBI chr11:68,030,681...68,036,644
Ensembl chr11:68,030,617...68,036,644 		JBrowse link
G NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 IAGP HPO ORPHA:2609 NCBI chr11:67,606,936...67,612,554
Ensembl chr11:67,605,653...67,612,554 		JBrowse link
G NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 IAGP HPO PMID:12754703 PMID:19167255 MIM:618229 ORPHA:2609 NCBI chr18:9,102,699...9,134,341
Ensembl chr18:9,102,630...9,134,345 		JBrowse link
G NEBL nebulette IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:20951326 PMID:24033266 PMID:25741868 PMID:25987543 PMID:27186169 More... NCBI chr10:20,779,973...21,293,050
Ensembl chr10:20,779,973...21,293,011 		JBrowse link
G NEK8 NIMA related kinase 8 IAGP HPO MIM:615415 NCBI chr17:28,728,788...28,743,455
Ensembl chr17:28,725,897...28,743,455 		JBrowse link
G NEXN nexilin F-actin binding protein IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
HPO		 PMID:19881492 PMID:20970104 PMID:24033266 PMID:24503780 PMID:25163546 More... MIM:613876 NCBI chr 1:77,888,624...77,943,895
Ensembl chr 1:77,888,513...77,943,895 		JBrowse link
G NEXN-AS1 NEXN antisense RNA 1 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chr 1:77,881,348...77,889,539
Ensembl chr 1:77,881,348...77,889,539 		JBrowse link
G NF1 neurofibromin 1 IAGP HPO PMID:29290338 MIM:162200 ORPHA:363700 ORPHA:638 ORPHA:97685 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G NFS1 NFS1 cysteine desulfurase IAGP HPO PMID:33457206 MIM:619386 NCBI chr20:35,668,052...35,699,352
Ensembl chr20:35,668,052...35,699,355 		JBrowse link
G NKX2-5 NK2 homeobox 5 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311 		JBrowse link
G NNT nicotinamide nucleotide transhydrogenase IAGP HPO ORPHA:361 NCBI chr 5:43,602,675...43,707,396
Ensembl chr 5:43,602,692...43,707,405 		JBrowse link
G NR1H3 nuclear receptor subfamily 1 group H member 3 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr11:47,248,300...47,269,033
Ensembl chr11:47,248,300...47,269,033 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP HPO PMID:26467218 MIM:613224 ORPHA:648 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207 		JBrowse link
G NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial IAGP HPO ORPHA:2609 NCBI chr14:31,561,404...31,861,224
Ensembl chr14:31,489,956...31,861,224 		JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase IAGP HPO PMID:26561570 MIM:616896 NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811 		JBrowse link
G OXTR oxytocin receptor IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:15580566 PMID:16770780 PMID:17060380 PMID:17210839 PMID:17275750 More... NCBI chr 3:8,741,269...8,769,613
Ensembl chr 3:8,750,381...8,769,628 		JBrowse link
G PACSIN3 protein kinase C and casein kinase substrate in neurons 3 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr11:47,177,522...47,186,434
Ensembl chr11:47,177,522...47,186,443 		JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP HPO ORPHA:84 NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321 		JBrowse link
G PDLIM3 PDZ and LIM domain 3 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:9536098 PMID:16199547 PMID:17254821 PMID:17576681 PMID:20801532 More... NCBI chr 4:185,500,660...185,535,507
Ensembl chr 4:185,500,660...185,535,507 		JBrowse link
G PKP2 plakophilin 2 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:16567567 PMID:17556197 PMID:19863551 PMID:19955750 PMID:20525856 More... NCBI chr12:32,790,755...32,896,777
Ensembl chr12:32,790,745...32,896,798 		JBrowse link
G PLN phospholamban IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
HPO		 PMID:12639993 PMID:12705874 PMID:16235537 PMID:16432188 PMID:17655857 More... MIM:613874 NCBI chr 6:118,548,296...118,561,716
Ensembl chr 6:118,548,296...118,561,716 		JBrowse link
G PMM2 phosphomannomutase 2 IAGP HPO ORPHA:79318 NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534 		JBrowse link
G PMPCA peptidase, mitochondrial processing subunit alpha IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:10528257 PMID:25808372 NCBI chr 9:136,410,658...136,423,761
Ensembl chr 9:136,410,630...136,427,992 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:1539879 PMID:7847370 PMID:11555352 PMID:12210792 PMID:12297582 More... NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G PPA2 inorganic pyrophosphatase 2 IAGP HPO PMID:27523598 MIM:617222 NCBI chr 4:105,369,077...105,474,070
Ensembl chr 4:105,369,077...105,474,067 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma IAGP HPO ORPHA:528 ORPHA:79083 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356 		JBrowse link
G PPP1CB protein phosphatase 1 catalytic subunit beta IAGP HPO PMID:27264673 MIM:617506 ORPHA:2701 NCBI chr 2:28,751,604...28,802,940
Ensembl chr 2:28,751,640...28,802,940 		JBrowse link
G PPP1R21 protein phosphatase 1 regulatory subunit 21 IAGP HPO PMID:30520571 MIM:619383 NCBI chr 2:48,440,766...48,515,386
Ensembl chr 2:48,440,598...48,515,391 		JBrowse link
G PPP6R1 protein phosphatase 6 regulatory subunit 1 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr19:55,228,218...55,259,017
Ensembl chr19:55,229,779...55,259,017 		JBrowse link
G PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
HPO		 PMID:762819 PMID:2526523 PMID:9536098 PMID:10355918 PMID:10368461 More... MIM:261740 MIM:600858 NCBI chr 7:151,556,127...151,877,115
Ensembl chr 7:151,556,124...151,877,214 		JBrowse link
G PRUNE1 prune exopolyphosphatase 1 IAGP HPO ORPHA:544469 NCBI chr 1:151,008,449...151,035,713
Ensembl chr 1:151,008,420...151,035,713 		JBrowse link
G PSMC3 proteasome 26S subunit, ATPase 3 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr11:47,418,775...47,426,439
Ensembl chr11:47,418,769...47,426,473 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
HPO		 PMID:11992261 PMID:12058348 PMID:12960218 PMID:14644997 PMID:14961557 More... MIM:151100 MIM:163950 ORPHA:500 ORPHA:648 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G PTPRH protein tyrosine phosphatase receptor type H IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr19:55,181,247...55,209,501
Ensembl chr19:55,181,247...55,209,506 		JBrowse link
G PYGL glycogen phosphorylase L IAGP HPO ORPHA:369 NCBI chr14:50,905,217...50,944,483
Ensembl chr14:50,857,891...50,944,483 		JBrowse link
G PYGM glycogen phosphorylase, muscle associated IAGP HPO ORPHA:368 NCBI chr11:64,746,389...64,760,715
Ensembl chr11:64,746,389...64,759,974 		JBrowse link
G QRSL1 glutaminyl-tRNA amidotransferase subunit QRSL1 IAGP HPO PMID:30283131 MIM:618835 NCBI chr 6:106,629,578...106,668,417
Ensembl chr 6:106,629,578...106,668,417 		JBrowse link
G RAB8B RAB8B, member RAS oncogene family IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr15:63,189,606...63,267,776
Ensembl chr15:63,189,560...63,267,776 		JBrowse link
G RAD51 RAD51 recombinase IAGP HPO ORPHA:84 NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340 		JBrowse link
G RAD51C RAD51 paralog C IAGP HPO ORPHA:84 NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP HPO PMID:17603482 PMID:17603483 MIM:611553 MIM:611554 ORPHA:500 ORPHA:648 NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201 		JBrowse link
G RAPSN receptor associated protein of the synapse IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143 		JBrowse link
G RASA2 RAS p21 protein activator 2 IAGP HPO ORPHA:648 NCBI chr 3:141,487,027...141,615,344
Ensembl chr 3:141,487,027...141,615,344 		JBrowse link
G RBM20 RNA binding motif protein 20 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:22004663 PMID:24033266 PMID:24503780 PMID:25637381 PMID:25741868 More... NCBI chr10:110,643,245...110,839,468
Ensembl chr10:110,644,336...110,839,471 		JBrowse link
G RFC2 replication factor C subunit 2 IAGP HPO ORPHA:904 NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458 		JBrowse link
G RFWD3 ring finger and WD repeat domain 3 IAGP HPO ORPHA:84 NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877 		JBrowse link
G RIT1 Ras like without CAAX 1 IAGP DNA:missense mutations:exon:multiple (human) HPO
RGD		 PMID:23791108 PMID:26757980 MIM:615355 ORPHA:648, RGD:11097409 NCBI chr 1:155,897,808...155,911,349
Ensembl chr 1:155,897,808...155,911,404 		JBrowse link
G RNASEH2A ribonuclease H2 subunit A IAGP HPO ORPHA:51 NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640 		JBrowse link
G RNASEH2B ribonuclease H2 subunit B IAGP HPO ORPHA:51 NCBI chr13:50,909,678...50,970,460
Ensembl chr13:50,909,747...51,024,120 		JBrowse link
G RNASEH2C ribonuclease H2 subunit C IAGP HPO ORPHA:51 NCBI chr11:65,717,673...65,720,798
Ensembl chr11:65,714,005...65,720,818 		JBrowse link
G RNF123 ring finger protein 123 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chr 3:49,689,557...49,721,529
Ensembl chr 3:49,689,538...49,721,529 		JBrowse link
G RNU7-1 RNA, U7 small nuclear 1 IAGP HPO ORPHA:51 NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878 		JBrowse link
G RPL36A-HNRNPH2 RPL36A-HNRNPH2 readthrough IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:7504405 PMID:7575533 PMID:7911050 PMID:8395937 PMID:8411052 More... NCBI chr  X:101,391,011...101,414,133
Ensembl chr  X:101,391,011...101,412,297 		JBrowse link
G RPS27L ribosomal protein S27 like IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr15:63,148,249...63,157,477
Ensembl chr15:63,125,872...63,158,021 		JBrowse link
G RRAS RAS related IAGP HPO ORPHA:648 NCBI chr19:49,635,292...49,640,143
Ensembl chr19:49,635,292...49,640,143 		JBrowse link
G RRAS2 RAS related 2 IAGP HPO ORPHA:648 NCBI chr11:14,277,920...14,364,506
Ensembl chr11:14,277,922...14,364,506 		JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP HPO ORPHA:96334 NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722 		JBrowse link
G RYR2 ryanodine receptor 2 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:12459180 PMID:18752142 PMID:19926015 PMID:22787013 PMID:23022705 More... NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988 		JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 IAGP HPO ORPHA:51 NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893 		JBrowse link
G SARDH sarcosine dehydrogenase IAGP HPO ORPHA:3129 NCBI chr 9:133,659,418...133,739,955
Ensembl chr 9:133,663,560...133,739,955 		JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:10807545 PMID:15689442 PMID:15851227 PMID:16155735 PMID:17227473 More... NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,743 		JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 IAGP HPO PMID:10545952 PMID:10749987 PMID:10805329 PMID:14994243 PMID:15210538 More... MIM:604377 NCBI chr22:50,523,568...50,526,442
Ensembl chr22:50,523,568...50,526,461 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP HPO MIM:252011 ORPHA:3208 NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082 		JBrowse link
G SDHAF1 succinate dehydrogenase complex assembly factor 1 IAGP HPO ORPHA:3208 NCBI chr19:35,995,188...35,996,312
Ensembl chr19:35,995,188...35,996,312 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP HPO ORPHA:3208 NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP HPO ORPHA:3208 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
G SGCA sarcoglycan alpha IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr17:50,166,005...50,175,928
Ensembl chr17:50,164,214...50,175,928 		JBrowse link
G SGCB sarcoglycan beta IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 4:52,020,706...52,038,299
Ensembl chr 4:52,020,706...52,038,299 		JBrowse link
G SHMT2 serine hydroxymethyltransferase 2 IAGP HPO PMID:33015733 MIM:619121 NCBI chr12:57,229,711...57,234,935
Ensembl chr12:57,229,573...57,234,935 		JBrowse link
G SHOC2 SHOC2 leucine rich repeat scaffold protein IAGP HPO PMID:19684605 PMID:20882035 PMID:23918763 MIM:607721 ORPHA:2701 NCBI chr10:110,919,370...111,013,665
Ensembl chr10:110,919,367...111,017,307 		JBrowse link
G SLC22A5 solute carrier family 22 member 5 IAGP HPO MIM:212140 NCBI chr 5:132,369,710...132,395,612
Ensembl chr 5:132,369,710...132,395,613 		JBrowse link
G SLC25A3 solute carrier family 25 member 3 IAGP HPO PMID:17273968 MIM:610773 ORPHA:91130 NCBI chr12:98,593,686...98,606,367
Ensembl chr12:98,593,591...98,606,379 		JBrowse link
G SLC25A4 solute carrier family 25 member 4 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
HPO		 PMID:16155110 PMID:21549803 PMID:22187496 PMID:22497660 PMID:25732997 More... MIM:615418 MIM:617184 ORPHA:1369 NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382 		JBrowse link
G SLC2A10 solute carrier family 2 member 10 IAGP HPO ORPHA:3342 NCBI chr20:46,708,320...46,736,347
Ensembl chr20:46,709,649...46,736,347 		JBrowse link
G SLC30A10 solute carrier family 30 member 10 IAGP HPO ORPHA:309854 NCBI chr 1:219,910,445...219,959,098
Ensembl chr 1:219,685,427...219,959,018 		JBrowse link
G SLC30A5 solute carrier family 30 member 5 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:33547425 NCBI chr 5:69,094,014...69,131,069
Ensembl chr 5:69,093,991...69,131,069 		JBrowse link
G SLC39A13 solute carrier family 39 member 13 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:19574547 PMID:28492532 PMID:30924982 NCBI chr11:47,407,276...47,416,500
Ensembl chr11:47,407,132...47,416,496 		JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit IAGP HPO ORPHA:84 NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP HPO MIM:300590 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728 		JBrowse link
G SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23143600 PMID:25820463 PMID:28492532 NCBI chr18:2,655,726...2,805,017
Ensembl chr18:2,655,726...2,805,017 		JBrowse link
G SNX25 sorting nexin 25 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:185,204,237...185,378,642
Ensembl chr 4:185,204,237...185,370,185 		JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
HPO		 PMID:17143282 PMID:17143285 PMID:17586837 PMID:21340158 PMID:21387466 More... MIM:610733 ORPHA:648 NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345 		JBrowse link
G SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 IAGP HPO ORPHA:648 NCBI chr14:50,117,130...50,231,882
Ensembl chr14:50,117,130...50,231,578 		JBrowse link
G SPI1 Spi-1 proto-oncogene IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:19574547 PMID:28492532 PMID:30924982 NCBI chr11:47,354,860...47,378,547
Ensembl chr11:47,354,860...47,409,369 		JBrowse link
G SPRED2 sprouty related EVH1 domain containing 2 IAGP HPO PMID:34626534 MIM:619745 ORPHA:648 NCBI chr 2:65,307,175...65,432,599
Ensembl chr 2:65,310,851...65,432,637 		JBrowse link
G STAR steroidogenic acute regulatory protein IAGP HPO ORPHA:361 NCBI chr 8:38,142,700...38,150,952
Ensembl chr 8:38,142,700...38,150,992 		JBrowse link
G STX1A syntaxin 1A IAGP HPO ORPHA:904 NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672 		JBrowse link
G SUCLG1 succinate-CoA ligase GDP/ADP-forming subunit alpha IAGP HPO ORPHA:17 NCBI chr 2:84,423,528...84,459,280
Ensembl chr 2:84,423,528...84,460,045 		JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP HPO PMID:28965847 MIM:617757 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535 		JBrowse link
G SURF1 SURF1 cytochrome c oxidase assembly factor IAGP HPO MIM:220110 NCBI chr 9:133,351,758...133,356,487
Ensembl chr 9:133,351,758...133,356,676 		JBrowse link
G SVIL supervillin IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chr10:29,457,338...29,736,936
Ensembl chr10:29,457,338...29,736,959 		JBrowse link
G SVIL-AS1 SVIL antisense RNA 1 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chr10:29,409,534...29,487,856
Ensembl chr10:29,409,618...29,415,412
Ensembl chr10:29,409,618...29,415,412 		JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP HPO ORPHA:98853 NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801 		JBrowse link
G SYNE2 spectrin repeat containing nuclear envelope protein 2 IAGP HPO ORPHA:98853 NCBI chr14:63,761,596...64,226,449
Ensembl chr14:63,761,899...64,226,433 		JBrowse link
G SYT5 synaptotagmin 5 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr19:55,171,196...55,180,289
Ensembl chr19:55,171,196...55,180,289 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase IAGP HPO PMID:34355125 MIM:302060 NCBI chr  X:154,411,539...154,421,726
Ensembl chr  X:154,411,524...154,421,726 		JBrowse link
G TANGO2 transport and golgi organization 2 homolog IAGP HPO MIM:616878 NCBI chr22:20,017,023...20,067,164
Ensembl chr22:20,017,014...20,067,164 		JBrowse link
G TAPT1 transmembrane anterior posterior transformation 1 IAGP HPO MIM:616897 NCBI chr 4:16,160,505...16,227,390
Ensembl chr 4:16,160,505...16,227,410 		JBrowse link
G TBL2 transducin beta like 2 IAGP HPO ORPHA:904 NCBI chr 7:73,567,537...73,578,579
Ensembl chr 7:73,567,537...73,578,791 		JBrowse link
G TCAP titin-cap IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
HPO		 PMID:15582318 PMID:16352453 PMID:17097056 PMID:19035361 PMID:20474083 More... MIM:607487 NCBI chr17:39,665,349...39,666,554
Ensembl chr17:39,665,349...39,666,554 		JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP HPO ORPHA:1328 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23861362 PMID:25637381 PMID:25741868 PMID:25835445 PMID:28492532 More... NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011 		JBrowse link
G TGIF1 TGFB induced factor homeobox 1 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23143600 PMID:25820463 PMID:28492532 NCBI chr18:3,412,009...3,459,978
Ensembl chr18:3,411,608...3,459,978 		JBrowse link
G TIMMDC1 translocase of inner mitochondrial membrane domain containing 1 IAGP HPO ORPHA:2609 NCBI chr 3:119,498,547...119,525,090
Ensembl chr 3:119,498,547...119,525,090 		JBrowse link
G TKFC triokinase and FMN cyclase IAGP HPO ORPHA:1369 NCBI chr11:61,333,228...61,353,426
Ensembl chr11:61,333,220...61,353,295 		JBrowse link
G TLN2 talin 2 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr15:62,390,550...62,844,631
Ensembl chr15:62,390,526...62,844,631 		JBrowse link
G TMEM126A transmembrane protein 126A IAGP HPO MIM:612989 NCBI chr11:85,647,967...85,656,542
Ensembl chr11:85,647,967...85,656,547 		JBrowse link
G TMEM126B transmembrane protein 126B IAGP HPO MIM:618250 ORPHA:2609 NCBI chr11:85,628,573...85,636,540
Ensembl chr11:85,628,573...85,636,539 		JBrowse link
G TMEM270 transmembrane protein 270 IAGP HPO ORPHA:904 NCBI chr 7:73,860,848...73,865,890
Ensembl chr 7:73,861,159...73,865,890 		JBrowse link
G TMEM43 transmembrane protein 43 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
HPO		 PMID:18313022 PMID:19467449 PMID:20010364 PMID:21214875 PMID:22458570 More... ORPHA:98853 NCBI chr 3:14,125,052...14,143,680
Ensembl chr 3:14,125,015...14,143,680 		JBrowse link
G TMEM70 transmembrane protein 70 IAGP HPO PMID:18953340 MIM:614052 ORPHA:1194 NCBI chr 8:73,976,195...73,982,783
Ensembl chr 8:73,972,437...73,982,783 		JBrowse link
G TMEM86B transmembrane protein 86B IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr19:55,226,638...55,228,763
Ensembl chr19:55,226,638...55,228,784 		JBrowse link
G TMPO thymopoietin IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:31983221 NCBI chr12:98,515,573...98,550,351
Ensembl chr12:98,515,561...98,550,351 		JBrowse link
G TNNC1 troponin C1, slow skeletal and cardiac type IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
HPO		 PMID:18572189 PMID:19439414 PMID:20459070 PMID:21056975 PMID:22489623 More... MIM:613243 NCBI chr 3:52,451,100...52,454,041
Ensembl chr 3:52,451,100...52,454,041 		JBrowse link
G TNNI3 troponin I3, cardiac type IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
HPO		 PMID:3144325 PMID:3349559 PMID:7592712 PMID:9241277 PMID:9536098 More... MIM:613690 ORPHA:75249 NCBI chr19:55,151,767...55,157,732
Ensembl chr19:55,151,767...55,157,773 		JBrowse link
G TNNT1 troponin T1, slow skeletal type IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:55,132,698...55,149,206
Ensembl chr19:55,132,698...55,149,206 		JBrowse link
G TNNT2 troponin T2, cardiac type IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
HPO		 PMID:209262 PMID:541918 PMID:2003160 PMID:2946667 PMID:7898523 More... MIM:115195 ORPHA:75249 NCBI chr 1:201,359,014...201,377,680
Ensembl chr 1:201,359,008...201,377,764 		JBrowse link
G TPI1 triosephosphate isomerase 1 IAGP HPO ORPHA:868 NCBI chr12:6,867,420...6,870,948
Ensembl chr12:6,867,119...6,870,948 		JBrowse link
G TPM1 tropomyosin 1 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
HPO		 PMID:07729014 PMID:07898523 PMID:08205619 PMID:08523464 PMID:08774330 More... MIM:115196 NCBI chr15:63,042,747...63,071,915
Ensembl chr15:63,042,620...63,071,915 		JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO ORPHA:51 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645 		JBrowse link
G TRIM63 tripartite motif containing 63 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:22821932 PMID:24436434 PMID:24436435 PMID:25741868 PMID:25801283 More... NCBI chr 1:26,051,301...26,067,630
Ensembl chr 1:26,051,301...26,068,436 		JBrowse link
G TRMT5 tRNA methyltransferase 5 IAGP HPO PMID:26189817 MIM:616539 NCBI chr14:60,971,441...60,981,690
Ensembl chr14:60,971,441...60,981,170 		JBrowse link
G TRPM4 transient receptor potential cation channel subfamily M member 4 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:23382873 PMID:25741868 PMID:28492532 NCBI chr19:49,157,792...49,211,836
Ensembl chr19:49,157,741...49,211,836 		JBrowse link
G TTN titin IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
HPO		 PMID:9536098 PMID:10462489 PMID:17344846 PMID:17576681 PMID:18414213 More... MIM:613765 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:25741868 PMID:26467025 NCBI chr 2:178,776,926...178,779,963
Ensembl chr 2:178,521,183...178,779,963 		JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:9536098 PMID:17344846 PMID:17576681 PMID:23396983 PMID:23861362 More... NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963 		JBrowse link
G TTPA alpha tocopherol transfer protein IAGP HPO ORPHA:96 NCBI chr 8:63,058,409...63,086,053
Ensembl chr 8:63,048,553...63,086,053 		JBrowse link
G TTR transthyretin IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy HPO
ClinVar		 PMID:2349941 PMID:7868124 PMID:14640030 PMID:20840742 PMID:25741868 More... ORPHA:85451 NCBI chr18:31,591,877...31,598,821
Ensembl chr18:31,557,009...31,598,833 		JBrowse link
G TULP3 TUB like protein 3 IAGP HPO PMID:35397207 MIM:619902 NCBI chr12:2,890,891...2,941,138
Ensembl chr12:2,877,223...2,941,138 		JBrowse link
G TXNRD2 thioredoxin reductase 2 IAGP HPO ORPHA:361 NCBI chr22:19,875,522...19,941,818
Ensembl chr22:19,875,517...19,941,820 		JBrowse link
G UBE2T ubiquitin conjugating enzyme E2 T IAGP HPO ORPHA:84 NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,544...202,341,984 		JBrowse link
G UBE3C ubiquitin protein ligase E3C IAGP HPO PMID:36401616 MIM:620270 NCBI chr 7:157,138,926...157,269,370
Ensembl chr 7:157,138,926...157,269,370 		JBrowse link
G UCP2 uncoupling protein 2 IAGP HPO ORPHA:276556 NCBI chr11:73,974,672...73,983,202
Ensembl chr11:73,974,061...73,982,843 		JBrowse link
G UFSP2 UFM1 specific peptidase 2 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr 4:185,399,537...185,425,964
Ensembl chr 4:185,399,537...185,425,979 		JBrowse link
G UQCRC1 ubiquinol-cytochrome c reductase core protein 1 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar NCBI chr 3:48,599,002...48,609,646
Ensembl chr 3:48,599,002...48,610,976 		JBrowse link
G UQCRFS1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 IAGP HPO PMID:31883641 MIM:618775 NCBI chr19:29,205,320...29,213,151
Ensembl chr19:29,205,320...29,213,151 		JBrowse link
G USP3 ubiquitin specific peptidase 3 IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr15:63,504,593...63,594,633
Ensembl chr15:63,504,511...63,594,640 		JBrowse link
G VARS2 valyl-tRNA synthetase 2, mitochondrial IAGP HPO PMID:27502409 MIM:615917 NCBI chr 6:30,914,238...30,926,459
Ensembl chr 6:30,914,205...30,926,459 		JBrowse link
G VCL vinculin IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar
HPO		 PMID:16236538 PMID:16712796 PMID:20474083 PMID:23299917 PMID:23396983 More... MIM:613255 NCBI chr10:73,998,116...74,121,363
Ensembl chr10:73,995,193...74,121,363 		JBrowse link
G VPS13C vacuolar protein sorting 13 homolog C IAGP ClinVar Annotator: match by term: Hypertrophic cardiomyopathy ClinVar PMID:28492532 NCBI chr15:61,852,389...62,060,447
Ensembl chr15:61,852,389...62,060,473 		JBrowse link
G VPS33A VPS33A core subunit of CORVET and HOPS complexes IAGP HPO PMID:28013294 MIM:617303 ORPHA:505248 NCBI chr12:122,229,564...122,266,494
Ensembl chr12:122,229,564...122,266,502 		JBrowse link
G VPS37D VPS37D subunit of ESCRT-I IAGP HPO ORPHA:904 NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112 		JBrowse link
G XRCC2 X-ray repair cross complementing 2 IAGP HPO ORPHA:84 NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193 		JBrowse link
G YARS2 tyrosyl-tRNA synthetase 2 IAGP HPO PMID:20598274 MIM:613561 NCBI chr12:32,746,544...32,755,897
Ensembl chr12:32,727,490...32,755,897 		JBrowse link
Left ventricular noncompaction cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTC1 actin alpha cardiac muscle 1 IAGP ClinVar Annotator: match by term: Left ventricular non-compaction cardiomyopathy
ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, left ventricular noncompaction 		ClinVar PMID:28492532 NCBI chr15:34,790,230...34,795,549
Ensembl chr15:34,790,107...34,795,589 		JBrowse link
G ACTN2 actinin alpha 2 IAGP ClinVar Annotator: match by term: Cardiomyopathy, left ventricular noncompaction
ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy 		ClinVar PMID:25741868 PMID:28492532 PMID:29447731 PMID:31110529 PMID:31333075 More... NCBI chr 1:236,686,499...236,764,631
Ensembl chr 1:236,664,141...236,764,631 		JBrowse link
G ALPK3 alpha kinase 3 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:28492532 NCBI chr15:84,817,356...84,873,479
Ensembl chr15:84,817,356...84,873,479 		JBrowse link
G C2orf49 chromosome 2 open reading frame 49 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:28492532 NCBI chr 2:105,337,540...105,385,899
Ensembl chr 2:105,337,532...105,350,712 		JBrowse link
G CBL Cbl proto-oncogene IAGP ClinVar Annotator: match by term: Cardiomyopathy, left ventricular noncompaction ClinVar PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926 		JBrowse link
G CRLS1 cardiolipin synthase 1 IAGP HPO PMID:35147173 MIM:620167 NCBI chr20:6,005,938...6,040,053
Ensembl chr20:6,006,093...6,040,053 		JBrowse link
G CTNNA3 catenin alpha 3 IAGP ClinVar Annotator: match by term: Cardiomyopathy, left ventricular noncompaction
ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy 		ClinVar PMID:28492532 NCBI chr10:65,912,523...67,763,594
Ensembl chr10:65,912,457...67,763,637 		JBrowse link
G DES desmin IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:27697855 PMID:27930701 PMID:28492532 More... NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735 		JBrowse link
G DMD dystrophin IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:19937601 PMID:28492532 NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G DNASE1L1 deoxyribonuclease 1 like 1 IAGP ClinVar Annotator: match by term: Left ventricular non-compaction cardiomyopathy
ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy 		ClinVar PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 NCBI chr  X:154,401,236...154,412,101
Ensembl chr  X:154,401,236...154,412,112 		JBrowse link
G DSG2 desmoglein 2 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:31333075 More... NCBI chr18:31,498,177...31,549,008
Ensembl chr18:31,497,624...31,551,351 		JBrowse link
G DSP desmoplakin IAGP ClinVar Annotator: match by term: Left ventricular non-compaction cardiomyopathy
ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy 		ClinVar PMID:20129281 PMID:20152563 PMID:21606396 PMID:21636032 PMID:21723241 More... NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717 		JBrowse link
G DTNA dystrobrevin alpha IAGP ClinVar Annotator: match by term: Left ventricular non-compaction cardiomyopathy
ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, left ventricular noncompaction 		ClinVar
HPO		 PMID:11238270 PMID:25741868 PMID:28492532 MIM:604169 NCBI chr18:34,493,312...34,891,844
Ensembl chr18:34,493,291...34,891,844 		JBrowse link
G EYA4 EYA transcriptional coactivator and phosphatase 4 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:31333075 More... NCBI chr 6:133,240,593...133,532,128
Ensembl chr 6:133,240,514...133,532,128 		JBrowse link
G FHL2 four and a half LIM domains 2 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:28492532 NCBI chr 2:105,357,712...105,438,529
Ensembl chr 2:105,357,712...105,438,513 		JBrowse link
G GJD2-DT GJD2 divergent transcript IAGP ClinVar Annotator: match by term: Left ventricular non-compaction cardiomyopathy
ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, left ventricular noncompaction 		ClinVar PMID:28492532 NCBI chr15:34,755,084...34,812,923
Ensembl chr15:34,755,062...34,813,505 		JBrowse link
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 IAGP ClinVar Annotator: match by term: Cardiomyopathy, left ventricular noncompaction
ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy 		ClinVar PMID:17646576 PMID:20662977 PMID:24569893 PMID:25741868 PMID:26688388 More... NCBI chr15:73,319,859...73,368,958
Ensembl chr15:73,319,859...73,368,958 		JBrowse link
G JPH2 junctophilin 2 IAGP ClinVar Annotator: match by term: Cardiomyopathy, left ventricular noncompaction
ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy 		ClinVar PMID:28492532 PMID:34814702 NCBI chr20:44,106,590...44,187,188
Ensembl chr20:44,106,590...44,187,188 		JBrowse link
G JUP junction plakoglobin IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:26220970 PMID:28492532 PMID:29334134 More... NCBI chr17:41,754,609...41,786,711
Ensembl chr17:41,754,604...41,786,931 		JBrowse link
G LAMA4 laminin subunit alpha 4 IAGP ClinVar Annotator: match by term: Left ventricular non-compaction cardiomyopathy ClinVar PMID:28492532 NCBI chr 6:112,107,931...112,254,985
Ensembl chr 6:112,107,931...112,254,939 		JBrowse link
G LDB3 LIM domain binding 3 IAGP ClinVar Annotator: match by term: Left ventricular non-compaction cardiomyopathy
ClinVar Annotator: match by term: left ventricular non-compaction cardiomyopathy
ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, left ventricular noncompaction 		ClinVar PMID:9536098 PMID:17576681 PMID:23861362 PMID:24033266 PMID:25741868 More... NCBI chr10:86,666,788...86,736,072
Ensembl chr10:86,666,785...86,736,072 		JBrowse link
G LOC110121486 VISTA enhancer hs2143 IAGP ClinVar Annotator: match by term: Left ventricular non-compaction cardiomyopathy
ClinVar Annotator: match by term: left ventricular non-compaction cardiomyopathy
ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, left ventricular noncompaction 		ClinVar PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:86,684,072...86,689,569 JBrowse link
G LOC114827851 VISTA enhancer hs2155 IAGP ClinVar Annotator: match by term: Left ventricular non-compaction cardiomyopathy
ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy 		ClinVar PMID:25741868 NCBI chr14:23,404,568...23,409,443 JBrowse link
G LOC126806424 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179456337-179457536 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:23975875 PMID:25589632 PMID:25741868 PMID:28492532 PMID:32659924 More... NCBI chr 2:178,591,610...178,592,809 JBrowse link
G LOC126806431 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179595719-179596918 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:178,730,992...178,732,191 JBrowse link
G LOC126861897 BRD4-independent group 4 enhancer GRCh37_chr14:23884455-23885654 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy
ClinVar Annotator: match by term: left ventricular non-compaction cardiomyopathy 		ClinVar PMID:12707239 PMID:15556047 PMID:19412328 PMID:22958901 PMID:24033266 More... NCBI chr14:23,415,246...23,416,445 JBrowse link
G LOC126861898 BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:12707239 PMID:15858117 PMID:17125710 PMID:18403758 PMID:18953637 More... NCBI chr14:23,424,400...23,425,599 JBrowse link
G LOC129935184 ATAC-STARR-seq lymphoblastoid active region 16809 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:32880476 NCBI chr 2:178,531,045...178,531,124 JBrowse link
G LOC130068869 ATAC-STARR-seq lymphoblastoid silent region 21101 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 NCBI chr  X:154,411,526...154,412,065 JBrowse link
G MHRT myosin heavy chain associated RNA transcript IAGP ClinVar Annotator: match by term: Left ventricular non-compaction cardiomyopathy
ClinVar Annotator: match by term: left ventricular non-compaction cardiomyopathy
ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy 		ClinVar PMID:12707239 PMID:15556047 PMID:19412328 PMID:22958901 PMID:23861362 More... NCBI chr14:23,415,450...23,417,595 JBrowse link
G MIB1 MIB E3 ubiquitin protein ligase 1 IAGP HPO PMID:23314057 MIM:615092 NCBI chr18:21,704,916...21,870,953
Ensembl chr18:21,704,957...21,870,953 		JBrowse link
G MLYCD malonyl-CoA decarboxylase IAGP HPO PMID:31395333 MIM:248360 NCBI chr16:83,899,115...83,927,031
Ensembl chr16:83,899,115...83,951,445 		JBrowse link
G MYBPC3 myosin binding protein C3 IAGP ClinVar Annotator: match by term: Left ventricular non-compaction cardiomyopathy
ClinVar Annotator: match by term: left ventricular non-compaction cardiomyopathy
ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, left ventricular noncompaction 		ClinVar PMID:925171 PMID:12818575 PMID:18258667 PMID:19574547 PMID:20624503 More... NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702 		JBrowse link
G MYH6 myosin heavy chain 6 IAGP ClinVar Annotator: match by term: Cardiomyopathy, left ventricular noncompaction
ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy 		ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:27789736 PMID:28491533 More... NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273 		JBrowse link
G MYH7 myosin heavy chain 7 IAGP ClinVar Annotator: match by term: Left ventricular non-compaction cardiomyopathy
ClinVar Annotator: match by term: left ventricular non-compaction cardiomyopathy
ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, left ventricular noncompaction 		ClinVar PMID:1430197 PMID:1430834 PMID:1552912 PMID:7731997 PMID:8533830 More... NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
G MYL2 myosin light chain 2 IAGP HPO PMID:23365102 MIM:619424 NCBI chr12:110,910,845...110,921,449
Ensembl chr12:110,909,996...111,052,434 		JBrowse link
G MYLK2 myosin light chain kinase 2 IAGP ClinVar Annotator: match by term: Left ventricular non-compaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 NCBI chr20:31,819,356...31,834,684
Ensembl chr20:31,819,308...31,834,689 		JBrowse link
G MYOCD myocardin IAGP HPO PMID:31513549 MIM:618719 NCBI chr17:12,665,890...12,768,949
Ensembl chr17:12,665,890...12,768,949 		JBrowse link
G MYPN myopalladin IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:29447731 PMID:30847666 PMID:31110529 More... NCBI chr10:68,087,897...68,212,017
Ensembl chr10:68,087,897...68,212,017 		JBrowse link
G NEXN nexilin F-actin binding protein IAGP ClinVar Annotator: match by term: Cardiomyopathy, left ventricular noncompaction
ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy 		ClinVar PMID:25741868 PMID:28492532 PMID:32058062 PMID:32814711 PMID:32870709 More... NCBI chr 1:77,888,624...77,943,895
Ensembl chr 1:77,888,513...77,943,895 		JBrowse link
G NONO non-POU domain containing octamer binding IAGP HPO PMID:27329731 MIM:300967 NCBI chr  X:71,283,635...71,301,168
Ensembl chr  X:71,254,814...71,301,522 		JBrowse link
G PKP2 plakophilin 2 IAGP ClinVar Annotator: match by term: Cardiomyopathy, left ventricular noncompaction
ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy 		ClinVar PMID:15489853 PMID:25741868 PMID:28492532 PMID:34540771 NCBI chr12:32,790,755...32,896,777
Ensembl chr12:32,790,745...32,896,798 		JBrowse link
G PRDM16 PR/SET domain 16 IAGP ClinVar Annotator: match by term: Cardiomyopathy, left ventricular noncompaction
ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy 		ClinVar PMID:23768516 PMID:25741868 PMID:31333075 PMID:31568572 PMID:34540771 NCBI chr 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Cardiomyopathy, left ventricular noncompaction ClinVar PMID:25741868 PMID:34540771 NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201 		JBrowse link
G RBM20 RNA binding motif protein 20 IAGP ClinVar Annotator: match by term: Cardiomyopathy, left ventricular noncompaction
ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy 		ClinVar PMID:24033266 PMID:24503780 PMID:25741868 PMID:27496873 PMID:27531932 More... NCBI chr10:110,643,245...110,839,468
Ensembl chr10:110,644,336...110,839,471 		JBrowse link
G RYR2 ryanodine receptor 2 IAGP ClinVar Annotator: match by term: Cardiomyopathy, left ventricular noncompaction ClinVar
HPO		 PMID:25741868 PMID:28492532 PMID:33536282 MIM:115000 NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988 		JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP ClinVar Annotator: match by term: Left ventricular non-compaction cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, left ventricular noncompaction 		ClinVar PMID:12354768 PMID:12820704 PMID:15466642 PMID:15840476 PMID:16540748 More... NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,743 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase IAGP ClinVar Annotator: match by term: Left ventricular non-compaction cardiomyopathy
ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, left ventricular noncompaction 		ClinVar PMID:19438153 PMID:19700766 PMID:20530761 PMID:24033266 PMID:24342716 More... NCBI chr  X:154,411,539...154,421,726
Ensembl chr  X:154,411,524...154,421,726 		JBrowse link
G TBX5 T-box transcription factor 5 IAGP HPO PMID:10842287 PMID:26401820 PMID:29755943 PMID:34490705 MIM:142900 NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442 		JBrowse link
G TCAP titin-cap IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:30847666 PMID:31983221 NCBI chr17:39,665,349...39,666,554
Ensembl chr17:39,665,349...39,666,554 		JBrowse link
G TMEM43 transmembrane protein 43 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:31333075 PMID:31568572 PMID:37477868 NCBI chr 3:14,125,052...14,143,680
Ensembl chr 3:14,125,015...14,143,680 		JBrowse link
G TNNI3 troponin I3, cardiac type IAGP ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy ClinVar PMID:7592712 PMID:15774859 PMID:17010989 PMID:17872964 PMID:23690394 More... NCBI chr19:55,151,767...55,157,732
Ensembl chr19:55,151,767...55,157,773 		JBrowse link
G TNNT2 troponin T2, cardiac type IAGP ClinVar Annotator: match by term: Left ventricular non-compaction cardiomyopathy
ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy
ClinVar Annotator: match by term: Cardiomyopathy, left ventricular noncompaction 		ClinVar PMID:2025668 PMID:7898523 PMID:9536098 PMID:12818575 PMID:12881443 More... NCBI chr 1:201,359,014...201,377,680
Ensembl chr 1:201,359,008...201,377,764 		JBrowse link
G TPM1 tropomyosin 1 IAGP ClinVar Annotator: match by term: Cardiomyopathy, left ventricular noncompaction
ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy 		ClinVar
HPO		 PMID:21551322 PMID:25741868 PMID:28492532 PMID:29024827 PMID:31333075 More... MIM:611878 NCBI chr15:63,042,747...63,071,915
Ensembl chr15:63,042,620...63,071,915 		JBrowse link
G TTN titin IAGP ClinVar Annotator: match by term: Cardiomyopathy, left ventricular noncompaction
ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy
ClinVar Annotator: match by term: left ventricular non-compaction cardiomyopathy
ClinVar Annotator: match by term: Left ventricular non-compaction cardiomyopathy 		ClinVar PMID:18948003 PMID:22335739 PMID:23975875 PMID:24033266 PMID:24395473 More... NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: left ventricular non-compaction cardiomyopathy ClinVar PMID:25589632 PMID:25741868 PMID:27869827 PMID:28492532 PMID:32964742 More... NCBI chr 2:178,776,926...178,779,963
Ensembl chr 2:178,521,183...178,779,963 		JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Cardiomyopathy, left ventricular noncompaction
ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy 		ClinVar PMID:18948003 PMID:22335739 PMID:23975875 PMID:24395473 PMID:25589632 More... NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963 		JBrowse link
Noncompaction cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DHX9 DExH-box helicase 9 IAGP HPO PMID:37369308 MIM:620988 NCBI chr 1:182,839,347...182,887,982
Ensembl chr 1:182,839,347...182,887,982 		JBrowse link
G DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 IAGP HPO MIM:610198 NCBI chr 3:180,983,709...180,989,838
Ensembl chr 3:180,983,697...180,989,774 		JBrowse link
G DTNA dystrobrevin alpha IAGP ClinVar Annotator: match by term: Noncompaction cardiomyopathy ClinVar
HPO		 PMID:21520333 PMID:25741868 PMID:28492532 PMID:29118297 MIM:604169 NCBI chr18:34,493,312...34,891,844
Ensembl chr18:34,493,291...34,891,844 		JBrowse link
G MYBPC3 myosin binding protein C3 IAGP ClinVar Annotator: match by term: Noncompaction cardiomyopathy ClinVar PMID:203979 PMID:2943217 PMID:9536098 PMID:17576681 PMID:20433692 More... NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702 		JBrowse link
G MYSM1 Myb like, SWIRM and MPN domains 1 IAGP HPO ORPHA:508542 NCBI chr 1:58,654,743...58,700,062
Ensembl chr 1:58,643,440...58,700,090 		JBrowse link
G NKX2-5 NK2 homeobox 5 IAGP ClinVar Annotator: match by term: Noncompaction cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO PMID:26522830 MIM:616651 ORPHA:353298 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP HPO ORPHA:3208 NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082 		JBrowse link
G SDHAF1 succinate dehydrogenase complex assembly factor 1 IAGP HPO ORPHA:3208 NCBI chr19:35,995,188...35,996,312
Ensembl chr19:35,995,188...35,996,312 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP HPO ORPHA:3208 NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP HPO ORPHA:3208 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
G TTN titin IAGP ClinVar Annotator: match by term: Spongiform cardiomyopathy
ClinVar Annotator: match by term: Noncompaction cardiomyopathy
ClinVar Annotator: match by term: Non-compaction cardiomyopathy 		ClinVar PMID:23975875 PMID:25589632 PMID:25741868 PMID:28492532 PMID:37652022 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Spongiform cardiomyopathy
ClinVar Annotator: match by term: Noncompaction cardiomyopathy
ClinVar Annotator: match by term: Non-compaction cardiomyopathy 		ClinVar PMID:23975875 PMID:25589632 PMID:25741868 PMID:28492532 PMID:37652022 NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963 		JBrowse link
Restrictive cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 IAGP HPO PMID:3342167 MIM:264800 ORPHA:758 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522 		JBrowse link
G ACTC1 actin alpha cardiac muscle 1 IAGP HPO MIM:613424 NCBI chr15:34,790,230...34,795,549
Ensembl chr15:34,790,107...34,795,589 		JBrowse link
G AKAP9 A-kinase anchoring protein 9 IAGP ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:91,940,862...92,110,673
Ensembl chr 7:91,940,840...92,110,673 		JBrowse link
G ANK1 ankyrin 1 IAGP HPO ORPHA:822 NCBI chr 8:41,653,225...41,896,741
Ensembl chr 8:41,653,220...41,896,741 		JBrowse link
G BAG3 BAG cochaperone 3 IAGP HPO PMID:19085932 MIM:612954 NCBI chr10:119,651,380...119,677,819
Ensembl chr10:119,651,380...119,677,819 		JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C IAGP ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:20817017 PMID:22840528 PMID:23861362 PMID:25633834 PMID:25741868 More... NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950 		JBrowse link
G CACNA1C-AS1 CACNA1C antisense RNA 1 IAGP ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:20817017 PMID:22840528 PMID:23861362 PMID:25633834 PMID:25741868 More... NCBI chr12:2,676,001...2,691,157
Ensembl chr12:2,668,500...2,812,944 		JBrowse link
G CENPE centromere protein E IAGP HPO PMID:24748105 MIM:616051 NCBI chr 4:103,105,811...103,198,343
Ensembl chr 4:103,105,349...103,198,445 		JBrowse link
G DES desmin IAGP HPO PMID:17221859 MIM:601419 NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735 		JBrowse link
G DMD dystrophin IAGP ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:14695533 PMID:15643612 PMID:25741868 PMID:28492532 NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G DSG2 desmoglein 2 IAGP ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr18:31,498,177...31,549,008
Ensembl chr18:31,497,624...31,551,351 		JBrowse link
G DSG2-AS1 DSG2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr18:31,542,146...31,556,911
Ensembl chr18:31,542,146...31,556,948 		JBrowse link
G DSP desmoplakin IAGP ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:11063735 PMID:16628197 PMID:21636032 PMID:24033266 PMID:25741868 More... NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO ORPHA:758 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
G EPB42 erythrocyte membrane protein band 4.2 IAGP HPO ORPHA:822 NCBI chr15:43,197,227...43,225,737
Ensembl chr15:43,197,227...43,221,018 		JBrowse link
G FLNA filamin A IAGP HPO ORPHA:88630 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FLNC filamin C IAGP ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:29212899 PMID:29650767 PMID:30260051 More... NCBI chr 7:128,830,406...128,859,272
Ensembl chr 7:128,830,406...128,859,274 		JBrowse link
G FLNC-AS1 FLNC antisense RNA 1 IAGP ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:29212899 PMID:29650767 PMID:30260051 More... NCBI chr 7:128,850,162...128,862,626
Ensembl chr 7:128,850,162...128,862,626 		JBrowse link
G KIF20A kinesin family member 20A IAGP HPO PMID:29357359 MIM:619433 NCBI chr 5:138,179,112...138,187,723
Ensembl chr 5:138,178,719...138,187,723 		JBrowse link
G LOC126807246 BRD4-independent group 4 enhancer GRCh37_chr4:186434842-186436041 IAGP ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:25741868 NCBI chr 4:185,513,688...185,514,887 JBrowse link
G LOC126861898 BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808 IAGP ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:12707239 PMID:17125710 PMID:18076673 PMID:18380764 PMID:20394946 More... NCBI chr14:23,424,400...23,425,599 JBrowse link
G MCM10 minichromosome maintenance 10 replication initiation factor IAGP HPO PMID:33712616 MIM:619313 NCBI chr10:13,161,558...13,211,110
Ensembl chr10:13,161,558...13,211,110 		JBrowse link
G MHRT myosin heavy chain associated RNA transcript IAGP ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:11861413 PMID:15358028 PMID:15483641 PMID:15769782 PMID:17336526 More... NCBI chr14:23,415,450...23,417,595 JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:1613771 PMID:7689389 PMID:8285309 PMID:8414970 PMID:8687424 More... NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G MT-RNR1 mitochondrially encoded 12S rRNA IAGP ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:1613771 PMID:7689389 PMID:8285309 PMID:8414970 PMID:8687424 More... NCBI chr MT:648...1,601
Ensembl chr MT:648...1,601 		JBrowse link
G MYH6 myosin heavy chain 6 IAGP ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273 		JBrowse link
G MYH7 myosin heavy chain 7 IAGP ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:11861413 PMID:12707239 PMID:15358028 PMID:15483641 PMID:15769782 More... NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
G MYL2 myosin light chain 2 IAGP HPO PMID:23365102 MIM:619424 NCBI chr12:110,910,845...110,921,449
Ensembl chr12:110,909,996...111,052,434 		JBrowse link
G MYL3 myosin light chain 3 IAGP ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar
HPO		 PMID:12021217 PMID:24111713 PMID:25132132 PMID:25741868 PMID:27532257 More... MIM:608751 NCBI chr 3:46,857,872...46,882,182
Ensembl chr 3:46,835,110...46,882,178 		JBrowse link
G MYOZ2 myozenin 2 IAGP ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:119,135,832...119,187,789
Ensembl chr 4:119,135,832...119,187,789 		JBrowse link
G MYPN myopalladin IAGP ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:25741868 PMID:28492532 PMID:30775854 PMID:31568572 NCBI chr10:68,087,897...68,212,017
Ensembl chr10:68,087,897...68,212,017 		JBrowse link
G PDGFRA platelet derived growth factor receptor alpha IAGP HPO MIM:607685 NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245 		JBrowse link
G PDLIM3 PDZ and LIM domain 3 IAGP ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:25741868 NCBI chr 4:185,500,660...185,535,507
Ensembl chr 4:185,500,660...185,535,507 		JBrowse link
G PIGT phosphatidylinositol glycan anchor biosynthesis class T IAGP HPO MIM:615398 ORPHA:369837 NCBI chr20:45,416,141...45,426,241
Ensembl chr20:45,416,084...45,456,934 		JBrowse link
G SLC25A4 solute carrier family 25 member 4 IAGP ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382 		JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) IAGP HPO ORPHA:822 NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141 		JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 IAGP HPO ORPHA:822 NCBI chr 1:158,610,704...158,686,715
Ensembl chr 1:158,610,704...158,686,715 		JBrowse link
G SPTB spectrin beta, erythrocytic IAGP HPO ORPHA:822 NCBI chr14:64,746,283...64,879,907
Ensembl chr14:64,746,283...64,879,907 		JBrowse link
G SYNE2 spectrin repeat containing nuclear envelope protein 2 IAGP ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:28492532 NCBI chr14:63,761,596...64,226,449
Ensembl chr14:63,761,899...64,226,433 		JBrowse link
G TNNI3 troponin I3, cardiac type IAGP ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar
HPO		 PMID:9241277 PMID:10098965 PMID:11735257 PMID:12531876 PMID:12746413 More... MIM:115210 NCBI chr19:55,151,767...55,157,732
Ensembl chr19:55,151,767...55,157,773 		JBrowse link
G TNNT2 troponin T2, cardiac type IAGP ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar
HPO		 PMID:10525521 PMID:10978365 PMID:11606294 PMID:14654368 PMID:14722098 More... MIM:612422 NCBI chr 1:201,359,014...201,377,680
Ensembl chr 1:201,359,008...201,377,764 		JBrowse link
G TRPM4 transient receptor potential cation channel subfamily M member 4 IAGP ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr19:49,157,792...49,211,836
Ensembl chr19:49,157,741...49,211,836 		JBrowse link
G TTN titin IAGP ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:25741868 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Restrictive cardiomyopathy ClinVar PMID:25741868 NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963 		JBrowse link
G TTR transthyretin IAGP HPO ORPHA:85451 NCBI chr18:31,591,877...31,598,821
Ensembl chr18:31,557,009...31,598,833 		JBrowse link
G XYLT1 xylosyltransferase 1 IAGP HPO PMID:3342167 MIM:264800 NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960 		JBrowse link
G XYLT2 xylosyltransferase 2 IAGP HPO PMID:3342167 MIM:264800 NCBI chr17:50,346,126...50,361,185
Ensembl chr17:50,346,126...50,363,138 		JBrowse link
Right ventricular cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSC2 desmocollin 2 IAGP HPO PMID:17033975 MIM:610476 NCBI chr18:31,058,840...31,102,421
Ensembl chr18:31,058,545...31,102,600 		JBrowse link
G DSG2 desmoglein 2 IAGP HPO PMID:16505173 MIM:610193 NCBI chr18:31,498,177...31,549,008
Ensembl chr18:31,497,624...31,551,351 		JBrowse link
G DSP desmoplakin IAGP ClinVar Annotator: match by term: Cardiomyopathy, esp. right ventricular
ClinVar Annotator: match by term: CARDIOMYOPATHY, ESP. RIGHT VENTRICULAR 		ClinVar
HPO		 PMID:12373648 PMID:16917092 PMID:20129281 PMID:20152563 PMID:20716751 More... MIM:607450 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717 		JBrowse link
G DSP-AS1 DSP antisense RNA 1 IAGP ClinVar Annotator: match by term: Right ventricular cardiomyopathy ClinVar PMID:16917092 PMID:20129281 PMID:20152563 PMID:21636032 PMID:23137101 More... NCBI chr 6:7,540,451...7,543,083
Ensembl chr 6:7,539,659...7,543,119 		JBrowse link
G JUP junction plakoglobin IAGP HPO PMID:17924338 PMID:32212272 MIM:601214 MIM:611528 NCBI chr17:41,754,609...41,786,711
Ensembl chr17:41,754,604...41,786,931 		JBrowse link
G LMNA lamin A/C IAGP ClinVar Annotator: match by term: CARDIOMYOPATHY, ESP. RIGHT VENTRICULAR ClinVar NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G PKP2 plakophilin 2 IAGP HPO PMID:15489853 MIM:609040 NCBI chr12:32,790,755...32,896,777
Ensembl chr12:32,790,745...32,896,798 		JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP HPO PMID:15639475 MIM:107970 NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011 		JBrowse link
G TMEM43 transmembrane protein 43 IAGP HPO PMID:18313022 MIM:604400 NCBI chr 3:14,125,052...14,143,680
Ensembl chr 3:14,125,015...14,143,680 		JBrowse link
G TTN titin IAGP ClinVar Annotator: match by term: CARDIOMYOPATHY, ESP. RIGHT VENTRICULAR ClinVar PMID:25741868 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
Takotsubo cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADORA2A adenosine A2a receptor IAGP HPO ORPHA:363549 NCBI chr22:24,423,597...24,442,357
Ensembl chr22:24,417,879...24,442,357 		JBrowse link
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  Human phenotype 98856
    Phenotypic abnormality 98459
      Abnormality of the cardiovascular system 15816
        Abnormal cardiovascular system morphology 8670
          Abnormal heart morphology 2355
            Abnormal myocardium morphology 1180
              Cardiomyopathy 1140
                Atrial cardiomyopathy 3
                Dilated cardiomyopathy 273
                Histiocytoid cardiomyopathy 7
                Hypertrophic cardiomyopathy + 739
                Noncompaction cardiomyopathy + 66
                Restrictive cardiomyopathy 47
                Right ventricular cardiomyopathy 10
                Takotsubo cardiomyopathy 6
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