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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:Cardiomegaly
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Accession:HP:0001640 term browser browse the term
Definition:Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.
Synonyms:exact_synonym: Enlarged heart;   Increased heart size;   cardiac hypertrophy
 xref: EFO:0002503;   MESH:D006332;   SNOMEDCT_US:8186001;   UMLS:C0018800


show annotations for term's descendants           Sort by:
Cardiomegaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS2 alanyl-tRNA synthetase 2, mitochondrial IAGP HPO OMIM:614096 NCBI chr 6:44,298,731...44,313,347
Ensembl chr 6:44,298,731...44,313,347 		JBrowse link
G ABCC6 ATP binding cassette subfamily C member 6 IAGP HPO OMIM:614473 ORPHA:51608 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522 		JBrowse link
G ABCC9 ATP binding cassette subfamily C member 9 IAGP HPO OMIM:239850 ORPHA:1517 NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543 		JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain IAGP HPO ORPHA:42 NCBI chr 1:75,724,709...75,763,679
Ensembl chr 1:75,724,431...75,787,575 		JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain IAGP HPO OMIM:201475 NCBI chr17:7,217,125...7,225,266
Ensembl chr17:7,217,125...7,225,266 		JBrowse link
G ACTA2 actin alpha 2, smooth muscle IAGP HPO ORPHA:91387 NCBI chr10:88,935,074...88,991,337
Ensembl chr10:88,934,822...88,991,339 		JBrowse link
G ACTN2 actinin alpha 2 IAGP HPO OMIM:618654 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 ALPK3 alpha kinase 3 IAGP HPO OMIM:618052 NCBI chr15:84,817,356...84,873,479
Ensembl chr15:84,817,356...84,873,479 		JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO ORPHA:97297 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G B3GAT3 beta-1,3-glucuronyltransferase 3 IAGP HPO OMIM:245600 NCBI chr11:62,615,296...62,621,986
Ensembl chr11:62,615,296...62,622,154 		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 BCL7B BAF chromatin remodeling complex subunit BCL7B IAGP HPO ORPHA:904 NCBI chr 7:73,536,356...73,557,690
Ensembl chr 7:73,536,356...73,557,690 		JBrowse link
G BMP2 bone morphogenetic protein 2 IAGP HPO OMIM: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 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 C1QBP complement C1q binding protein IAGP HPO OMIM:617713 NCBI chr17:5,432,777...5,439,155
Ensembl chr17:5,432,777...5,448,830 		JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C IAGP HPO OMIM:601005 NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950 		JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C IAGP HPO OMIM:130650 NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775 		JBrowse link
G CHST3 carbohydrate sulfotransferase 3 IAGP HPO OMIM:245600 NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G CLIC2 chloride intracellular channel 2 IAGP HPO OMIM:300886 ORPHA:324410 NCBI chr  X:155,276,211...155,334,614
Ensembl chr  X:155,276,211...155,334,657 		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 CLXN calaxin IAGP HPO OMIM:620642 NCBI chr 8:48,710,789...48,735,311
Ensembl chr 8:48,710,789...48,735,311 		JBrowse link
G COX5A cytochrome c oxidase subunit 5A IAGP HPO OMIM:619064 NCBI chr15:74,919,791...74,938,073
Ensembl chr15:74,919,791...74,938,083 		JBrowse link
G COX6B1 cytochrome c oxidase subunit 6B1 IAGP HPO OMIM:619051 NCBI chr19:35,648,323...35,658,782
Ensembl chr19:35,648,323...35,658,782 		JBrowse link
G CPT1A carnitine palmitoyltransferase 1A IAGP HPO OMIM:255120 NCBI chr11:68,754,620...68,844,277
Ensembl chr11:68,754,620...68,844,410 		JBrowse link
G CPT2 carnitine palmitoyltransferase 2 IAGP HPO OMIM:600649 OMIM:608836 ORPHA:228308 NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197 		JBrowse link
G DES desmin IAGP HPO OMIM:604765 NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735 		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 DOHH deoxyhypusine hydroxylase IAGP HPO OMIM:620066 NCBI chr19:3,490,824...3,500,674
Ensembl chr19:3,490,821...3,500,674 		JBrowse link
G DSP desmoplakin IAGP HPO ORPHA:158687 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717 		JBrowse link
G DYSF dysferlin IAGP HPO ORPHA:268 NCBI chr 2:71,453,561...71,686,763
Ensembl chr 2:71,453,561...71,686,763 		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 ELN elastin IAGP HPO ORPHA:904 ORPHA:91387 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO OMIM:208000 ORPHA:51608 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
G ESAM endothelial cell adhesion molecule IAGP HPO OMIM:620371 NCBI chr11:124,753,126...124,762,290
Ensembl chr11:124,752,583...124,762,290 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO ORPHA:91387 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FHL1 four and a half LIM domains 1 IAGP HPO OMIM:300280 NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359 		JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO ORPHA:3472 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		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 FOCAD focadhesin IAGP HPO OMIM:619991 NCBI chr 9:20,655,625...20,995,950
Ensembl chr 9:20,658,309...20,995,955 		JBrowse link
G FOXE3 forkhead box E3 IAGP HPO ORPHA:91387 NCBI chr 1:47,416,285...47,418,052
Ensembl chr 1:47,416,285...47,418,052 		JBrowse link
G FUCA1 alpha-L-fucosidase 1 IAGP HPO OMIM:230000 ORPHA:349 NCBI chr 1:23,845,077...23,868,290
Ensembl chr 1:23,845,077...23,868,290 		JBrowse link
G GAA alpha glucosidase IAGP HPO OMIM:232300 ORPHA:308552 NCBI chr17:80,101,581...80,119,881
Ensembl chr17:80,101,533...80,119,881 		JBrowse link
G GATB glutamyl-tRNA amidotransferase subunit B IAGP HPO OMIM:618838 NCBI chr 4:151,670,504...151,761,007
Ensembl chr 4:151,670,504...151,761,007 		JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO OMIM:231005 OMIM:608013 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699 		JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP HPO OMIM:252500 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959 		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 H19-ICR H19/IGF2 imprinting control region IAGP HPO OMIM:130650 NCBI chr11:1,998,202...2,003,509 JBrowse link
G HBB hemoglobin subunit beta IAGP HPO OMIM:603903 NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395 		JBrowse link
G HEXB hexosaminidase subunit beta IAGP HPO OMIM:268800 NCBI chr 5:74,640,023...74,721,288
Ensembl chr 5:74,640,023...74,722,647 		JBrowse link
G HEY2 hes related family bHLH transcription factor with YRPW motif 2 IAGP HPO ORPHA:91387 NCBI chr 6:125,749,632...125,761,269
Ensembl chr 6:125,747,664...125,761,269 		JBrowse link
G HFE homeostatic iron regulator IAGP HPO OMIM:235200 ORPHA:465508 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343 		JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 IAGP HPO ORPHA:391428 NCBI chr  X:53,431,258...53,434,376
Ensembl chr  X:53,431,258...53,434,370 		JBrowse link
G HYMAI hydatidiform mole associated and imprinted IAGP HPO ORPHA:96191 NCBI chr 6:144,004,916...144,008,259
Ensembl chr 6:144,004,916...144,008,262 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO OMIM:182250 ORPHA:51 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
G IGF2 insulin like growth factor 2 IAGP HPO OMIM:130650 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391 		JBrowse link
G JUP junction plakoglobin IAGP HPO OMIM:601214 ORPHA:158687 NCBI chr17:41,754,609...41,786,711
Ensembl chr17:41,754,604...41,786,931 		JBrowse link
G KCNJ8 potassium inwardly rectifying channel subfamily J member 8 IAGP HPO ORPHA:1517 NCBI chr12:21,764,955...21,774,706
Ensembl chr12:21,764,955...21,775,600 		JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IAGP HPO OMIM: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 OMIM:130650 NCBI chr11:2,608,328...2,699,994
Ensembl chr11:2,597,308...2,700,003 		JBrowse link
G LAMP2 lysosomal associated membrane protein 2 IAGP HPO OMIM:300257 NCBI chr  X:120,426,148...120,469,349
Ensembl chr  X:120,426,148...120,469,365 		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 LOX lysyl oxidase IAGP HPO ORPHA:91387 NCBI chr 5:122,063,195...122,078,259
Ensembl chr 5:122,063,195...122,078,413 		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 LYN LYN proto-oncogene, Src family tyrosine kinase IAGP HPO OMIM:620376 NCBI chr 8:55,879,835...56,014,169
Ensembl chr 8:55,879,835...56,014,169 		JBrowse link
G MAT2A methionine adenosyltransferase 2A IAGP HPO ORPHA:91387 NCBI chr 2:85,539,168...85,545,281
Ensembl chr 2:85,539,168...85,545,281 		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 MFAP5 microfibril associated protein 5 IAGP HPO ORPHA:91387 NCBI chr12:8,645,943...8,662,826
Ensembl chr12:8,637,346...8,662,888 		JBrowse link
G MLXIPL MLX interacting protein like IAGP HPO ORPHA:904 NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543 		JBrowse link
G MOGS mannosyl-oligosaccharide glucosidase IAGP HPO ORPHA:79330 NCBI chr 2:74,461,057...74,465,382
Ensembl chr 2:74,461,057...74,465,410 		JBrowse link
G MT-CYB mitochondrially encoded cytochrome b IAGP HPO ORPHA:137675 NCBI chr MT:14,747...15,887
Ensembl chr MT:14,747...15,887 		JBrowse link
G MTO1 mitochondrial tRNA translation optimization 1 IAGP HPO OMIM:614702 NCBI chr 6:73,461,737...73,509,236
Ensembl chr 6:73,461,578...73,509,236 		JBrowse link
G MTTP microsomal triglyceride transfer protein IAGP HPO ORPHA:14 NCBI chr 4:99,564,130...99,623,997
Ensembl chr 4:99,564,081...99,623,997 		JBrowse link
G MYBPC3 myosin binding protein C3 IAGP HPO OMIM:115197 NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702 		JBrowse link
G MYH11 myosin heavy chain 11 IAGP HPO ORPHA:229 ORPHA:91387 NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,858,438 		JBrowse link
G MYLK myosin light chain kinase IAGP HPO ORPHA:91387 NCBI chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP HPO OMIM:300855 NCBI chr  X:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080 		JBrowse link
G NAGA alpha-N-acetylgalactosaminidase IAGP HPO ORPHA:79280 NCBI chr22:42,058,334...42,070,842
Ensembl chr22:42,058,334...42,070,842 		JBrowse link
G NAGLU N-acetyl-alpha-glucosaminidase IAGP HPO OMIM:252920 NCBI chr17:42,536,241...42,544,449
Ensembl chr17:42,536,241...42,544,449 		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 NDUFB7 NADH:ubiquinone oxidoreductase subunit B7 IAGP HPO OMIM:620135 NCBI chr19:14,566,078...14,572,066
Ensembl chr19:14,566,078...14,572,066 		JBrowse link
G NDUFC2 NADH:ubiquinone oxidoreductase subunit C2 IAGP HPO OMIM:619170 NCBI chr11:78,068,297...78,079,862
Ensembl chr11:78,068,297...78,079,862 		JBrowse link
G NEK9 NIMA related kinase 9 IAGP HPO OMIM:617022 NCBI chr14:75,079,353...75,127,202
Ensembl chr14:75,079,353...75,127,344 		JBrowse link
G NEU1 neuraminidase 1 IAGP HPO OMIM:256550 NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,659...31,862,905 		JBrowse link
G NHLRC2 NHL repeat containing 2 IAGP HPO OMIM:618278 NCBI chr10:113,854,661...113,917,194
Ensembl chr10:113,854,661...113,917,194 		JBrowse link
G NKX2-6 NK2 homeobox 6 IAGP HPO ORPHA:3384 NCBI chr 8:23,701,740...23,706,756
Ensembl chr 8:23,701,740...23,706,756 		JBrowse link
G NONO non-POU domain containing octamer binding IAGP HPO OMIM:300967 NCBI chr  X:71,283,635...71,301,168
Ensembl chr  X:71,254,814...71,301,522 		JBrowse link
G PAM16 presequence translocase associated motor 16 IAGP HPO OMIM:613320 NCBI chr16:4,340,251...4,351,321
Ensembl chr16:4,331,549...4,355,607 		JBrowse link
G PEX7 peroxisomal biogenesis factor 7 IAGP HPO OMIM:266500 NCBI chr 6:136,822,592...136,913,934
Ensembl chr 6:136,822,564...136,913,934 		JBrowse link
G PGM1 phosphoglucomutase 1 IAGP HPO OMIM:614921 NCBI chr 1:63,593,411...63,660,245
Ensembl chr 1:63,593,411...63,660,245 		JBrowse link
G PHYH phytanoyl-CoA 2-hydroxylase IAGP HPO OMIM:266500 NCBI chr10:13,277,799...13,300,064
Ensembl chr10:13,277,796...13,302,412 		JBrowse link
G PIGS phosphatidylinositol glycan anchor biosynthesis class S IAGP HPO OMIM:618143 NCBI chr17:28,553,387...28,571,524
Ensembl chr17:28,553,383...28,571,794 		JBrowse link
G PLAGL1 PLAG1 like zinc finger 1 IAGP HPO ORPHA:96191 NCBI chr 6:143,940,300...144,064,599
Ensembl chr 6:143,940,300...144,064,599 		JBrowse link
G PLXND1 plexin D1 IAGP HPO ORPHA:3384 NCBI chr 3:129,555,214...129,606,676
Ensembl chr 3:129,555,214...129,606,676 		JBrowse link
G PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 IAGP HPO OMIM:261740 NCBI chr 7:151,556,127...151,877,115
Ensembl chr 7:151,556,124...151,877,214 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO ORPHA:615 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
G PRKG1 protein kinase cGMP-dependent 1 IAGP HPO ORPHA:91387 NCBI chr10:50,990,888...52,298,350
Ensembl chr10:50,990,888...52,298,423 		JBrowse link
G PSMB8 proteasome 20S subunit beta 8 IAGP HPO OMIM:256040 NCBI chr 6:32,840,717...32,844,679
Ensembl chr 6:32,840,717...32,844,679 		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 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 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 RRAGC Ras related GTP binding C IAGP HPO OMIM:620609 NCBI chr 1:38,838,198...38,859,772
Ensembl chr 1:38,838,198...38,859,772 		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 SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP HPO OMIM:619259 NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082 		JBrowse link
G SLC17A5 solute carrier family 17 member 5 IAGP HPO OMIM:269920 NCBI chr 6:73,593,379...73,653,992
Ensembl chr 6:73,593,379...73,653,992 		JBrowse link
G SLC22A5 solute carrier family 22 member 5 IAGP HPO OMIM:212140 NCBI chr 5:132,369,710...132,395,612
Ensembl chr 5:132,369,710...132,395,613 		JBrowse link
G SLC29A3 solute carrier family 29 member 3 IAGP HPO OMIM:602782 NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423 		JBrowse link
G SLC31A1 solute carrier family 31 member 1 IAGP HPO OMIM:620306 NCBI chr 9:113,221,544...113,264,492
Ensembl chr 9:113,221,544...113,264,492 		JBrowse link
G SMAD2 SMAD family member 2 IAGP HPO ORPHA:91387 NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146 		JBrowse link
G SMAD3 SMAD family member 3 IAGP HPO ORPHA:91387 NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173 		JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO ORPHA:91387 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G STAT2 signal transducer and activator of transcription 2 IAGP HPO OMIM:618886 NCBI chr12:56,341,597...56,360,107
Ensembl chr12:56,341,597...56,360,203 		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 TAPT1 transmembrane anterior posterior transformation 1 IAGP HPO OMIM: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 TET3 tet methylcytosine dioxygenase 3 IAGP HPO OMIM:618798 NCBI chr 2:73,983,631...74,135,498
Ensembl chr 2:73,984,910...74,108,176 		JBrowse link
G TGFB2 transforming growth factor beta 2 IAGP HPO ORPHA:91387 NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619 		JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP HPO ORPHA:91387 NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP HPO ORPHA:91387 NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP HPO ORPHA:91387 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
G THSD4 thrombospondin type 1 domain containing 4 IAGP HPO ORPHA:91387 NCBI chr15:71,096,894...71,783,383
Ensembl chr15:71,096,952...71,783,383 		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 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 TRIM37 tripartite motif containing 37 IAGP HPO OMIM:253250 NCBI chr17:58,967,201...59,106,880
Ensembl chr17:58,982,638...59,106,921 		JBrowse link
G TTR transthyretin IAGP HPO OMIM:105210 ORPHA:85447 ORPHA:85451 NCBI chr18:31,591,877...31,598,821
Ensembl chr18:31,557,009...31,598,833 		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 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 WDR37 WD repeat domain 37 IAGP HPO OMIM:618652 NCBI chr10:1,056,385...1,132,372
Ensembl chr10:1,049,538...1,160,991 		JBrowse link
G ZIC3 Zic family member 3 IAGP HPO OMIM:306955 NCBI chr  X:137,566,127...137,577,691
Ensembl chr  X:137,566,127...137,577,691 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21568
    Phenotypic abnormality 21558
      Abnormality of the cardiovascular system 3985
        Abnormal cardiovascular system morphology 2343
          Abnormal heart morphology 1801
            Cardiomegaly 134
paths to the root