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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:Abnormal myocardium morphology
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Accession:HP:0001637 term browser browse the term
Definition:A structural anomaly of the muscle layer of the heart wall.
Synonyms:exact_synonym: Abnormality of the myocardium
 xref: UMLS:C4025758


show annotations for term's descendants           Sort by:
Abnormal myocardium morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C4A complement C4A (Chido/Rodgers blood group) IAGP HPO ORPHA:117 NCBI chr 6:31,982,057...32,002,681
Ensembl chr 6:31,982,057...32,002,681 		JBrowse link
G CCR1 C-C motif chemokine receptor 1 IAGP HPO ORPHA:117 NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313 		JBrowse link
G CPT2 carnitine palmitoyltransferase 2 IAGP HPO ORPHA:228308 NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197 		JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 IAGP HPO ORPHA:117 NCBI chr 5:96,760,813...96,935,854
Ensembl chr 5:96,760,810...96,808,100 		JBrowse link
G FAS Fas cell surface death receptor IAGP HPO ORPHA:117 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO ORPHA:77261 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699 		JBrowse link
G GLA galactosidase alpha IAGP HPO ORPHA:324 NCBI chr  X:101,397,803...101,407,925
Ensembl chr  X:101,393,273...101,408,012 		JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP HPO ORPHA:117 ORPHA:36426 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G IFNGR1 interferon gamma receptor 1 IAGP HPO ORPHA:117 NCBI chr 6:137,197,484...137,219,385
Ensembl chr 6:137,197,483...137,219,449 		JBrowse link
G IKZF1 IKAROS family zinc finger 1 IAGP HPO ORPHA:36426 NCBI chr 7:50,303,455...50,405,101
Ensembl chr 7:50,304,068...50,405,101 		JBrowse link
G IL10 interleukin 10 IAGP HPO ORPHA:117 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IL12A interleukin 12A IAGP HPO ORPHA:117 NCBI chr 3:159,988,835...159,996,019
Ensembl chr 3:159,988,835...159,996,019 		JBrowse link
G IL12A-AS1 IL12A antisense RNA 1 IAGP HPO ORPHA:117 NCBI chr 3:159,913,400...160,207,092
Ensembl chr 3:159,902,045...160,226,966 		JBrowse link
G IL23R interleukin 23 receptor IAGP HPO ORPHA:117 NCBI chr 1:67,138,637...67,265,903
Ensembl chr 1:67,138,907...67,259,979 		JBrowse link
G KLRC4 killer cell lectin like receptor C4 IAGP HPO ORPHA:117 NCBI chr12:10,407,384...10,409,757
Ensembl chr12:10,403,059...10,409,757 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:300751 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP HPO ORPHA:117 NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633 		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 STAT4 signal transducer and activator of transcription 4 IAGP HPO ORPHA:117 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435 		JBrowse link
G TLR4 toll like receptor 4 IAGP HPO ORPHA:117 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A IAGP HPO ORPHA:32960 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114 		JBrowse link
G UBAC2 UBA domain containing 2 IAGP HPO ORPHA:117 NCBI chr13:99,200,854...99,386,504
Ensembl chr13:99,200,774...99,386,504 		JBrowse link
Abnormal morphology of right ventricular trabeculae term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
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 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 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 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 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 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 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 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 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
Cardiac amyloidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B2M beta-2-microglobulin IAGP HPO ORPHA:314652 NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851 		JBrowse link
G DSC1 desmocollin 1 IAGP ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY ClinVar PMID:28492532 NCBI chr18:31,129,236...31,162,856
Ensembl chr18:31,129,236...31,162,856 		JBrowse link
G DSC2 desmocollin 2 IAGP ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY ClinVar PMID:28492532 NCBI chr18:31,058,840...31,102,421
Ensembl chr18:31,058,545...31,102,600 		JBrowse link
G DSG1 desmoglein 1 IAGP ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY ClinVar PMID:28492532 NCBI chr18:31,318,160...31,359,246
Ensembl chr18:31,318,160...31,359,246 		JBrowse link
G DSG2 desmoglein 2 IAGP ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY ClinVar PMID:28492532 NCBI chr18:31,498,177...31,549,008
Ensembl chr18:31,497,624...31,551,351 		JBrowse link
G DSG3 desmoglein 3 IAGP ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY ClinVar PMID:28492532 NCBI chr18:31,447,741...31,478,702
Ensembl chr18:31,447,741...31,478,702 		JBrowse link
G DSG4 desmoglein 4 IAGP ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY ClinVar PMID:28492532 NCBI chr18:31,376,777...31,414,909
Ensembl chr18:31,376,777...31,414,912 		JBrowse link
G GSN gelsolin IAGP HPO MIM:105120 NCBI chr 9:121,201,483...121,332,842
Ensembl chr 9:121,207,794...121,332,843 		JBrowse link
G MYBPC3 myosin binding protein C3 IAGP ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY ClinVar PMID:11499719 PMID:12974739 PMID:15519027 PMID:17560888 PMID:22464770 More... NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702 		JBrowse link
G MYL3 myosin light chain 3 IAGP ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY ClinVar PMID:24033266 PMID:24510615 PMID:25741868 PMID:28492532 PMID:32815737 NCBI chr 3:46,857,872...46,882,182
Ensembl chr 3:46,835,110...46,882,178 		JBrowse link
G PACS1 phosphofurin acidic cluster sorting protein 1 IAGP ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY ClinVar PMID:23159249 PMID:25326635 PMID:25356970 PMID:25522177 PMID:25533962 More... NCBI chr11:66,070,272...66,244,744
Ensembl chr11:66,070,272...66,244,744 		JBrowse link
G PKP2 plakophilin 2 IAGP ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY ClinVar PMID:25351510 PMID:25741868 PMID:28492532 PMID:28600387 PMID:30847666 NCBI chr12:32,790,755...32,896,777
Ensembl chr12:32,790,745...32,896,798 		JBrowse link
G SAA1 serum amyloid A1 IAGP HPO ORPHA:85445 NCBI chr11:18,266,264...18,269,967
Ensembl chr11:18,266,260...18,269,977 		JBrowse link
G TNNI3 troponin I3, cardiac type IAGP ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY ClinVar PMID:11815426 PMID:12860912 PMID:15524171 PMID:15607392 PMID:18175163 More... NCBI chr19:55,151,767...55,157,732
Ensembl chr19:55,151,767...55,157,773 		JBrowse link
G TTN titin IAGP ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 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: AMYLOID CARDIOMYOPATHY ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 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: AMYLOID CARDIOMYOPATHY ClinVar
HPO		 PMID:192115 PMID:1301926 PMID:1330202 PMID:1335038 PMID:1350083 More... ORPHA:85451 NCBI chr18:31,591,877...31,598,821
Ensembl chr18:31,557,009...31,598,833 		JBrowse link
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 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 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 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:25741868 PMID:26846950 PMID:27106955 PMID:28492532 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 ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622 		JBrowse link
G APOA1-AS APOA1 antisense RNA IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr11:116,836,117...116,855,729
Ensembl chr11:116,836,117...116,856,210 		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 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:17655857 PMID:18056057 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 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 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 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 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 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 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 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 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 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 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: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 HFE homeostatic iron regulator IAGP ClinVar Annotator: match by term: Cardiomyopathy HPO
ClinVar		 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 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 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 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 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 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: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 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 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:22335739 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 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 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:9536098 PMID:11861413 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:08673105 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:8673105 PMID:9536098 PMID:11174330 PMID:12021217 PMID:16754800 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 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 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 NRAP nebulin related anchoring protein IAGP ClinVar Annotator: match by term: Cardiomyopathy ClinVar PMID:25741868 PMID:33534821 NCBI chr10:113,588,714...113,664,041
Ensembl chr10:113,588,714...113,664,070 		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 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