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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:Pulmonic stenosis
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Accession:HP:0001642 term browser browse the term
Definition:A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).
Comment:Pulmonic stenosis is often seen as a part of Fallot' s tetralogy, in which case the events leading to the formation of the overriding aorta are also believed to be a cause of the pulmonic stenosis. The pulmonic stenosis is the major cause of the malformations seen in patients with Fallot tetralogy, with the other associated malformations acting as compensatory mechanisms to the pulmonic stenosis. The degree of stenosis varies between individuals with TOF, and is the primary determinant of symptoms and severity.
Synonyms:exact_synonym: Narrowing of pulmonic valve;   Pulmonary stenosis;   Pulmonary valve stenosis;   Pulmonic valve stenosis
 xref: Fyler:1611;   MESH:D011666;   SNOMEDCT_US:56786000;   UMLS:C1956257


show annotations for term's descendants           Sort by:
Pulmonic stenosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AC011095.1 novel transcript IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:76,122,998...76,145,255
Ensembl chr18:76,122,968...76,145,259 		JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 IAGP HPO ORPHA:79159 NCBI chr11:134,253,568...134,265,855
Ensembl chr11:134,253,548...134,265,855 		JBrowse link
G ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif 10 IAGP HPO OMIM:277600 ORPHA:3449 NCBI chr19:8,580,240...8,610,715
Ensembl chr19:8,580,240...8,610,735 		JBrowse link
G ADAMTS19 ADAM metallopeptidase with thrombospondin type 1 motif 19 IAGP HPO OMIM:620067 NCBI chr 5:129,460,298...129,738,683
Ensembl chr 5:129,460,281...129,738,683 		JBrowse link
G ADK adenosine kinase IAGP HPO OMIM:614300 NCBI chr10:74,151,221...74,709,290
Ensembl chr10:74,151,202...74,709,963 		JBrowse link
G ADNP2 ADNP homeobox 2 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:80,109,262...80,140,346
Ensembl chr18:80,109,262...80,147,523 		JBrowse link
G AGO2 argonaute RISC catalytic component 2 IAGP HPO OMIM:619149 NCBI chr 8:140,520,156...140,642,313
Ensembl chr 8:140,520,156...140,635,633 		JBrowse link
G ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 IAGP HPO OMIM:615382 NCBI chr 9:98,732,009...98,796,555
Ensembl chr 9:98,731,329...98,796,965 		JBrowse link
G ARHGAP31 Rho GTPase activating protein 31 IAGP HPO OMIM:100300 NCBI chr 3:119,294,383...119,420,714
Ensembl chr 3:119,294,383...119,420,714 		JBrowse link
G ARPC4 actin related protein 2/3 complex subunit 4 IAGP HPO OMIM:620141 NCBI chr 3:9,792,518...9,807,101
Ensembl chr 3:9,792,495...9,807,101 		JBrowse link
G ATP9B ATPase phospholipid transporting 9B (putative) IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,069,394...79,378,283
Ensembl chr18:79,069,285...79,378,287 		JBrowse link
G B3GLCT beta 3-glucosyltransferase IAGP HPO OMIM:261540 ORPHA:709 NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276 		JBrowse link
G B4GALT7 beta-1,4-galactosyltransferase 7 IAGP HPO ORPHA:75496 NCBI chr 5:177,600,132...177,610,330
Ensembl chr 5:177,600,132...177,610,330 		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 BCOR BCL6 corepressor IAGP HPO OMIM:300166 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329 		JBrowse link
G BMP2 bone morphogenetic protein 2 IAGP HPO OMIM:617877 NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246 		JBrowse link
G BPTF bromodomain PHD finger transcription factor IAGP HPO ORPHA:529962 NCBI chr17:67,825,503...67,984,378
Ensembl chr17:67,825,503...67,984,378 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Pulmonic stenosis ClinVar
HPO		 PMID:16439621 PMID:16474404 PMID:17366577 PMID:17483702 PMID:17704260 More... OMIM:115150 OMIM:163950 OMIM: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 BUB1B BUB1 mitotic checkpoint serine/threonine kinase B IAGP HPO OMIM:257300 NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123 		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 C18orf63 chromosome 18 open reading frame 63 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,315,839...74,359,189
Ensembl chr18:74,315,839...74,359,189 		JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C IAGP ClinVar Annotator: match by term: Narrowing of pulmonic valve ClinVar PMID:28492532 NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950 		JBrowse link
G CBLN2 cerebellin 2 precursor IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:72,536,681...72,638,521
Ensembl chr18:72,536,680...72,638,521 		JBrowse link
G CCDC186 coiled-coil domain containing 186 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:33259146 NCBI chr10:114,120,862...114,174,220
Ensembl chr10:114,120,862...114,174,232 		JBrowse link
G CCDC22 coiled-coil domain containing 22 IAGP HPO ORPHA:7 NCBI chr  X:49,235,470...49,250,520
Ensembl chr  X:49,235,470...49,250,520 		JBrowse link
G CCDC32 coiled-coil domain containing 32 IAGP HPO OMIM:619123 NCBI chr15:40,520,993...40,565,042
Ensembl chr15:40,528,683...40,565,054 		JBrowse link
G CD226 CD226 molecule IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:69,853,274...69,961,773
Ensembl chr18:69,831,158...69,961,803 		JBrowse link
G CDC42 cell division cycle 42 IAGP HPO OMIM:616737 NCBI chr 1:22,052,709...22,101,360
Ensembl chr 1:22,052,627...22,101,360 		JBrowse link
G CFC1B cryptic, EGF-CFC family member 1B IAGP DNA:CNVs::2q21.1 (human) RGD PMID:25423076 RGD:155226881 NCBI chr 2:130,521,222...130,528,603
Ensembl chr 2:130,521,197...130,528,604 		JBrowse link
G CHD3 chromodomain helicase DNA binding protein 3 IAGP HPO OMIM:618205 NCBI chr17:7,884,796...7,912,755
Ensembl chr17:7,884,796...7,912,760 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP HPO OMIM:214800 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G CHST3 carbohydrate sulfotransferase 3 IAGP HPO OMIM:143095 NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G CIC capicua transcriptional repressor IAGP HPO OMIM:617600 NCBI chr19:42,268,530...42,295,796
Ensembl chr19:42,268,537...42,295,797 		JBrowse link
G CIROP ciliated left-right organizer metallopeptidase IAGP HPO OMIM:619702 NCBI chr14:23,099,062...23,104,989
Ensembl chr14:23,099,062...23,104,989 		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 CNDP1 carnosine dipeptidase 1 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,534,500...74,587,212
Ensembl chr18:74,534,500...74,587,212 		JBrowse link
G CNDP2 carnosine dipeptidase 2 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,496,363...74,523,454
Ensembl chr18:74,495,816...74,523,454 		JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP HPO OMIM:618343 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746 		JBrowse link
G CREBBP CREB binding protein IAGP HPO ORPHA:353277 ORPHA:353281 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G CTDP1 CTD phosphatase subunit 1 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,676,768...79,756,625
Ensembl chr18:79,679,803...79,754,503 		JBrowse link
G CTDP1-DT CTDP1 divergent transcript IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,638,928...79,679,745
Ensembl chr18:79,638,928...79,679,745 		JBrowse link
G CUL3 cullin 3 IAGP HPO OMIM:619239 NCBI chr 2:224,470,150...224,585,363
Ensembl chr 2:224,470,150...224,585,397 		JBrowse link
G CYB5A cytochrome b5 type A IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,250,846...74,291,963
Ensembl chr18:74,250,846...74,291,973 		JBrowse link
G DAW1 dynein assembly factor with WD repeats 1 IAGP HPO OMIM:620570 NCBI chr 2:227,871,631...227,924,344
Ensembl chr 2:227,871,054...227,924,344 		JBrowse link
G DCHS1 dachsous cadherin-related 1 IAGP HPO ORPHA:314679 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 DIPK1C divergent protein kinase domain 1C IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,434,775...74,464,648
Ensembl chr18:74,434,775...74,457,944 		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 DOK6 docking protein 6 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:69,400,888...69,849,087
Ensembl chr18:69,400,888...69,849,087 		JBrowse link
G DPYSL5 dihydropyrimidinase like 5 IAGP HPO ORPHA:7 NCBI chr 2:26,847,995...26,950,351
Ensembl chr 2:26,847,747...26,950,351 		JBrowse link
G DSG1 desmoglein 1 IAGP HPO OMIM:615508 NCBI chr18:31,318,160...31,359,246
Ensembl chr18:31,318,160...31,359,246 		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 OMIM:185500 OMIM:194050 ORPHA:904 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:613312 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
G EP300 E1A binding protein p300 IAGP HPO ORPHA:353284 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077 		JBrowse link
G FAT4 FAT atypical cadherin 4 IAGP HPO ORPHA:314679 NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO OMIM:608328 ORPHA:3449 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FBXO15 F-box protein 15 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,073,368...74,147,834
Ensembl chr18:74,073,353...74,147,843 		JBrowse link
G FBXW11 F-box and WD repeat domain containing 11 IAGP HPO OMIM:618914 NCBI chr 5:171,861,549...172,006,638
Ensembl chr 5:171,861,549...172,006,873 		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 FKTN fukutin IAGP HPO OMIM:253800 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G FLT4 fms related receptor tyrosine kinase 4 IAGP HPO OMIM:618780 NCBI chr 5:180,601,506...180,650,298
Ensembl chr 5:180,601,506...180,649,624 		JBrowse link
G G6PC3 glucose-6-phosphatase catalytic subunit 3 IAGP HPO OMIM:612541 NCBI chr17:44,070,673...44,076,344
Ensembl chr17:44,070,620...44,082,151 		JBrowse link
G GALR1 galanin receptor 1 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:77,249,848...77,277,900
Ensembl chr18:77,249,848...77,277,900 		JBrowse link
G GATA4 GATA binding protein 4 IAGP ClinVar Annotator: match by term: Pulmonic stenosis ClinVar
HPO		 PMID:18055909 PMID:20981092 PMID:25741868 PMID:27535533 PMID:28492532 OMIM:607941 OMIM:614429 NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002 		JBrowse link
G GATA6 GATA binding protein 6 IAGP HPO OMIM:600001 ORPHA:2255 NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528 		JBrowse link
G GDF1 growth differentiation factor 1 IAGP HPO OMIM:208530 OMIM:613854 NCBI chr19:18,868,545...18,896,158
Ensembl chr19:18,868,545...18,896,158 		JBrowse link
G GPC3 glypican 3 IAGP HPO OMIM:312870 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 OMIM:312870 NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489 		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 GTSCR1 Gilles de la Tourette syndrome chromosome region, candidate 1 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:70,630,519...70,650,954
Ensembl chr18:70,630,519...70,650,953 		JBrowse link
G HIVEP2 HIVEP zinc finger 2 IAGP HPO OMIM:616977 NCBI chr 6:142,751,469...142,946,365
Ensembl chr 6:142,751,469...142,956,698 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Pulmonic stenosis ClinVar
HPO		 PMID:28492532 OMIM:218040 ORPHA:3071 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G HSBP1L1 heat shock factor binding protein 1 like 1 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,964,643...79,970,822
Ensembl chr18:79,964,582...79,970,822 		JBrowse link
G IGFBP7 insulin like growth factor binding protein 7 IAGP HPO OMIM:614224 NCBI chr 4:57,030,773...57,110,385
Ensembl chr 4:57,030,773...57,110,385 		JBrowse link
G KANSL1 KAT8 regulatory NSL complex subunit 1 IAGP HPO OMIM:610443 ORPHA:363958 ORPHA:363965 NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389 		JBrowse link
G KAT6A lysine acetyltransferase 6A IAGP HPO OMIM:616268 NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994 		JBrowse link
G KCNG2 potassium voltage-gated channel modifier subfamily G member 2 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,797,938...79,900,100
Ensembl chr18:79,797,938...79,900,184 		JBrowse link
G KCNH1 potassium voltage-gated channel subfamily H member 1 IAGP HPO OMIM:611816 NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165 		JBrowse link
G KDM6A lysine demethylase 6A IAGP HPO OMIM:300867 NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779 		JBrowse link
G KIF20A kinesin family member 20A IAGP HPO OMIM:619433 NCBI chr 5:138,179,112...138,187,723
Ensembl chr 5:138,178,719...138,187,723 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO OMIM:609942 ORPHA:1340 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		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 LINC00683 long intergenic non-protein coding RNA 683 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:76,619,777...76,623,559
Ensembl chr18:76,528,652...76,670,111 		JBrowse link
G LINC00908 long intergenic non-protein coding RNA 908 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:76,528,655...76,559,827
Ensembl chr18:76,528,652...76,670,111 		JBrowse link
G LINC01029 long intergenic non-protein coding RNA 1029 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:77,971,294...77,993,727
Ensembl chr18:77,970,637...77,993,731 		JBrowse link
G LINC01541 long intergenic non-protein coding RNA 1541 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:71,519,964...71,578,956
Ensembl chr18:71,519,962...71,578,956 		JBrowse link
G LINC01879 long intergenic non-protein coding RNA 1879 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:76,690,029...76,693,636
Ensembl chr18:76,686,058...76,693,636 		JBrowse link
G LINC01893 long intergenic non-protein coding RNA 1893 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:76,209,510...76,215,824
Ensembl chr18:76,209,422...76,221,718 		JBrowse link
G LINC01896 long intergenic non-protein coding RNA 1896 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:78,976,555...78,979,691
Ensembl chr18:78,976,555...78,979,074 		JBrowse link
G LINC01898 long intergenic non-protein coding RNA 1898 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:75,696,083...75,712,403
Ensembl chr18:75,696,044...75,712,851 		JBrowse link
G LINC01899 long intergenic non-protein coding RNA 1899 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:71,732,615...71,782,226
Ensembl chr18:71,732,615...71,788,128 		JBrowse link
G LINC01909 long intergenic non-protein coding RNA 1909 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:70,335,439...70,352,459
Ensembl chr18:70,335,439...70,352,459 		JBrowse link
G LINC01910 long intergenic non-protein coding RNA 1910 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:70,380,140...70,384,591
Ensembl chr18:70,380,140...70,384,591 		JBrowse link
G LINC01922 long intergenic non-protein coding RNA 1922 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,409,448...74,413,209
Ensembl chr18:74,409,415...74,413,209 		JBrowse link
G LINC01927 long intergenic non-protein coding RNA 1927 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:76,622,781...76,639,011
Ensembl chr18:76,622,136...76,639,030 		JBrowse link
G LINC02582 long intergenic non-protein coding RNA 2582 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:73,324,941...73,349,889
Ensembl chr18:73,324,941...73,349,879 		JBrowse link
G LINC02864 long intergenic non-protein coding RNA 2864 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:73,154,058...73,264,498
Ensembl chr18:73,151,241...73,264,480 		JBrowse link
G LIVAR liver cell viability associated lncRNA IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:70,335,508...70,338,180
Ensembl chr18:70,335,501...70,337,310 		JBrowse link
G LOC105372187 uncharacterized LOC105372187 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:71,215,626...71,237,158 JBrowse link
G LOC105372228 uncharacterized LOC105372228 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,610,658...79,615,961 JBrowse link
G LOC107992389 chr18 t(4;18)(q35;q18) HERV-H recombination region IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:73,325,048...73,328,058 JBrowse link
G LOC110120868 VISTA enhancer hs378 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,645,519...74,646,377 JBrowse link
G LOC110120915 VISTA enhancer hs634 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:78,246,820...78,248,476 JBrowse link
G LOC110120931 VISTA enhancer hs775 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,250,009...79,250,795 JBrowse link
G LOC110120935 VISTA enhancer hs824 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,855,716...74,857,326 JBrowse link
G LOC110121312 VISTA enhancer hs1011 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:78,701,276...78,702,723 JBrowse link
G LOC110121314 VISTA enhancer hs1020 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:77,784,243...77,786,551 JBrowse link
G LOC110121318 VISTA enhancer hs1056 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:78,721,722...78,723,806 JBrowse link
G LOC110121330 VISTA enhancer hs1186 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:77,857,617...77,858,906 JBrowse link
G LOC112543433 MED14-independent group 3 enhancer GRCh37_chr18:68004081-68005280 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:70,336,845...70,338,044 JBrowse link
G LOC116276492 CRISPRi-validated cis-regulatory element chr18.1476 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,480,039...74,480,717 JBrowse link
G LOC121627836 Sharpr-MPRA regulatory region 3365 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:73,189,774...73,190,068 JBrowse link
G LOC121627838 Sharpr-MPRA regulatory region 9472 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,040,794...74,041,092 JBrowse link
G LOC121627839 Sharpr-MPRA regulatory region 12176 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,242,614...74,242,908 JBrowse link
G LOC121627840 Sharpr-MPRA regulatory region 3936 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:75,210,614...75,210,908 JBrowse link
G LOC121627841 Sharpr-MPRA regulatory region 15651 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:80,012,809...80,013,103 JBrowse link
G LOC121852970 Sharpr-MPRA regulatory region 1017 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,856,709...79,857,003 JBrowse link
G LOC124904333 octapeptide-repeat protein T2 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,419,249...79,422,903 JBrowse link
G LOC125371438 Sharpr-MPRA regulatory region 7597 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:70,072,653...70,072,947 JBrowse link
G LOC125371439 Sharpr-MPRA regulatory region 9768 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:75,286,694...75,286,988 JBrowse link
G LOC125371440 Sharpr-MPRA regulatory region 8201 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:76,522,192...76,522,486 JBrowse link
G LOC125371441 Sharpr-MPRA regulatory region 926 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:77,447,993...77,448,287 JBrowse link
G LOC125371442 Sharpr-MPRA regulatory region 1467 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,899,289...79,899,583 JBrowse link
G LOC125371443 Sharpr-MPRA regulatory region 11655 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,900,549...79,900,843 JBrowse link
G LOC126862784 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:67602408-67603607 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:69,935,172...69,936,371 JBrowse link
G LOC126862785 MED14-independent group 3 enhancer GRCh37_chr18:67714790-67715989 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:70,047,554...70,048,753 JBrowse link
G LOC126862786 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:68024559-68025758 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:70,357,323...70,358,522 JBrowse link
G LOC126862787 MED14-independent group 3 enhancer GRCh37_chr18:68051227-68052426 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:70,383,991...70,385,190 JBrowse link
G LOC126862788 BRD4-independent group 4 enhancer GRCh37_chr18:68781710-68782909 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:71,114,474...71,115,673 JBrowse link
G LOC126862789 BRD4-independent group 4 enhancer GRCh37_chr18:69673999-69675198 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:72,006,764...72,007,963 JBrowse link
G LOC126862790 MED14-independent group 3 enhancer GRCh37_chr18:70100942-70102141 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:72,433,707...72,434,906 JBrowse link
G LOC126862791 CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:70916635-70917834 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:73,249,400...73,250,599 JBrowse link
G LOC126862792 CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:71230790-71231989 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:73,563,555...73,564,754 JBrowse link
G LOC126862793 MED14-independent group 3 enhancer GRCh37_chr18:71362654-71363853 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:73,695,419...73,696,618 JBrowse link
G LOC126862794 CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:71382077-71383276 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:73,714,842...73,716,041 JBrowse link
G LOC126862795 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:71384186-71385385 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:73,716,951...73,718,150 JBrowse link
G LOC126862796 BRD4-independent group 4 enhancer GRCh37_chr18:71817752-71818951 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,150,517...74,151,716 JBrowse link
G LOC126862797 BRD4-independent group 4 enhancer GRCh37_chr18:71822138-71823337 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,154,903...74,156,102 JBrowse link
G LOC126862798 MED14-independent group 3 enhancer GRCh37_chr18:72345358-72346557 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,633,402...74,634,601 JBrowse link
G LOC126862799 BRD4-independent group 4 enhancer GRCh37_chr18:72517901-72519100 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,805,945...74,807,144 JBrowse link
G LOC126862800 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:72641053-72642252 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,928,913...74,930,296 JBrowse link
G LOC126862801 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:72782275-72783474 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:75,070,319...75,071,518 JBrowse link
G LOC126862802 BRD4-independent group 4 enhancer GRCh37_chr18:72947291-72948490 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:75,235,336...75,236,535 JBrowse link
G LOC126862803 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:73120415-73121614 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:75,408,460...75,409,659 JBrowse link
G LOC126862804 BRD4-independent group 4 enhancer GRCh37_chr18:73141751-73142950 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:75,429,796...75,430,995 JBrowse link
G LOC126862805 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:73201370-73202569 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:75,489,415...75,490,614 JBrowse link
G LOC126862806 BRD4-independent group 4 enhancer GRCh37_chr18:73337297-73338496 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:75,625,342...75,626,541 JBrowse link
G LOC126862807 MED14-independent group 3 enhancer GRCh37_chr18:73423789-73424988 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:75,711,834...75,713,033 JBrowse link
G LOC126862808 MED14-independent group 3 enhancer GRCh37_chr18:73766732-73767931 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:76,054,777...76,055,976 JBrowse link
G LOC126862809 BRD4-independent group 4 enhancer GRCh37_chr18:73843050-73844249 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:76,131,095...76,132,294 JBrowse link
G LOC126862810 MED14-independent group 3 enhancer GRCh37_chr18:73920680-73921879 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:76,208,725...76,209,924 JBrowse link
G LOC126862811 MED14-independent group 3 enhancer GRCh37_chr18:74188803-74190002 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:76,476,847...76,478,046 JBrowse link
G LOC126862812 CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:74700218-74701417 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:76,988,262...76,989,461 JBrowse link
G LOC126862813 BRD4-independent group 4 enhancer GRCh37_chr18:74748403-74749602 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:77,036,447...77,037,646 JBrowse link
G LOC126862814 MED14-independent group 3 enhancer GRCh37_chr18:74776675-74777874 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:77,064,719...77,065,918 JBrowse link
G LOC126862815 MED14-independent group 3 enhancer GRCh37_chr18:74938546-74939745 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:77,226,590...77,227,789 JBrowse link
G LOC126862816 MED14-independent group 3 enhancer GRCh37_chr18:75065347-75066546 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:77,353,391...77,354,590 JBrowse link
G LOC126862817 CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:75115171-75116370 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:77,403,215...77,404,414 JBrowse link
G LOC126862818 BRD4-independent group 4 enhancer GRCh37_chr18:75535169-75536368 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:77,823,213...77,824,412 JBrowse link
G LOC126862819 MED14-independent group 3 enhancer GRCh37_chr18:75844334-75845533 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:78,084,334...78,085,533 JBrowse link
G LOC126862820 CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:75936086-75937285 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:78,176,086...78,177,285 JBrowse link
G LOC126862821 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:76254093-76255292 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:78,494,093...78,495,292 JBrowse link
G LOC126862822 CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:76302140-76303339 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:78,542,140...78,543,339 JBrowse link
G LOC126862823 BRD4-independent group 4 enhancer GRCh37_chr18:76336458-76337657 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:78,576,458...78,577,657 JBrowse link
G LOC126862824 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:76391650-76392849 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:78,631,650...78,632,849 JBrowse link
G LOC126862825 CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:76406811-76408010 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:78,646,811...78,648,010 JBrowse link
G LOC126862826 BRD4-independent group 4 enhancer GRCh37_chr18:76610953-76612152 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:78,850,953...78,852,152 JBrowse link
G LOC126862827 BRD4-independent group 4 enhancer GRCh37_chr18:76669815-76671014 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:78,909,815...78,911,014 JBrowse link
G LOC126862828 MED14-independent group 3 enhancer GRCh37_chr18:76686389-76687588 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:78,926,389...78,927,588 JBrowse link
G LOC126862829 BRD4-independent group 4 enhancer GRCh37_chr18:76766909-76768108 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,006,909...79,008,108 JBrowse link
G LOC126862830 MED14-independent group 3 enhancer GRCh37_chr18:77005320-77006519 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,245,320...79,246,519 JBrowse link
G LOC126862831 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:77121413-77122612 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,361,413...79,362,612 JBrowse link
G LOC126862832 CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:77330216-77331415 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,570,216...79,571,415 JBrowse link
G LOC126862833 BRD4-independent group 4 enhancer GRCh37_chr18:77585975-77587174 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,825,975...79,827,174 JBrowse link
G LOC126862834 BRD4-independent group 4 enhancer GRCh37_chr18:77808538-77809737 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:80,048,538...80,049,737 JBrowse link
G LOC129391005 MPRA-validated peak3184 silencer IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,300,481...74,300,681 JBrowse link
G LOC129391006 MPRA-validated peak3188 silencer IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:77,772,160...77,772,360 JBrowse link
G LOC129391007 MPRA-validated peak3193 silencer IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,235,646...79,235,846 JBrowse link
G LOC129391008 MPRA-validated peak3194 silencer IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,335,800...79,336,000 JBrowse link
G LOC129456126 CRISPR/Cas9-targeted silencer 8 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,592,826...79,592,910 JBrowse link
G LOC130062694 ATAC-STARR-seq lymphoblastoid active region 13475 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:69,864,826...69,864,895 JBrowse link
G LOC130062695 ATAC-STARR-seq lymphoblastoid active region 13477 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:69,939,822...69,940,161 JBrowse link
G LOC130062696 ATAC-STARR-seq lymphoblastoid active region 13478 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:69,945,453...69,945,582 JBrowse link
G LOC130062697 ATAC-STARR-seq lymphoblastoid active region 13479 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:69,945,593...69,945,642 JBrowse link
G LOC130062698 ATAC-STARR-seq lymphoblastoid active region 13480 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:69,946,143...69,946,192 JBrowse link
G LOC130062699 ATAC-STARR-seq lymphoblastoid silent region 9538 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:70,024,997...70,025,046 JBrowse link
G LOC130062700 ATAC-STARR-seq lymphoblastoid silent region 9539 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:70,025,057...70,025,116 JBrowse link
G LOC130062701 ATAC-STARR-seq lymphoblastoid active region 13481 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:70,036,896...70,037,305 JBrowse link
G LOC130062702 ATAC-STARR-seq lymphoblastoid active region 13482 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:70,166,208...70,166,337 JBrowse link
G LOC130062703 ATAC-STARR-seq lymphoblastoid active region 13483 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:70,194,349...70,194,398 JBrowse link
G LOC130062704 ATAC-STARR-seq lymphoblastoid active region 13484 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:70,205,387...70,205,516 JBrowse link
G LOC130062705 ATAC-STARR-seq lymphoblastoid silent region 9540 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:70,288,881...70,289,780 JBrowse link
G LOC130062706 ATAC-STARR-seq lymphoblastoid active region 13487 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:70,598,907...70,598,986 JBrowse link
G LOC130062707 ATAC-STARR-seq lymphoblastoid active region 13488 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:71,011,645...71,011,724 JBrowse link
G LOC130062708 ATAC-STARR-seq lymphoblastoid active region 13489 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:72,674,600...72,674,739 JBrowse link
G LOC130062709 ATAC-STARR-seq lymphoblastoid silent region 9541 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,147,564...74,147,713 JBrowse link
G LOC130062710 ATAC-STARR-seq lymphoblastoid active region 13491 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,148,404...74,148,523 JBrowse link
G LOC130062711 ATAC-STARR-seq lymphoblastoid active region 13492 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,148,554...74,148,603 JBrowse link
G LOC130062712 ATAC-STARR-seq lymphoblastoid active region 13493 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,148,684...74,148,773 JBrowse link
G LOC130062713 ATAC-STARR-seq lymphoblastoid active region 13494 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,163,542...74,163,601 JBrowse link
G LOC130062714 ATAC-STARR-seq lymphoblastoid active region 13495 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,292,463...74,292,522 JBrowse link
G LOC130062715 ATAC-STARR-seq lymphoblastoid silent region 9542 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,493,728...74,493,777 JBrowse link
G LOC130062716 ATAC-STARR-seq lymphoblastoid active region 13496 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,495,649...74,495,918 JBrowse link
G LOC130062717 ATAC-STARR-seq lymphoblastoid active region 13497 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,497,372...74,497,471 JBrowse link
G LOC130062718 ATAC-STARR-seq lymphoblastoid active region 13498 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,499,391...74,499,590 JBrowse link
G LOC130062719 ATAC-STARR-seq lymphoblastoid active region 13499 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,499,631...74,499,800 JBrowse link
G LOC130062720 ATAC-STARR-seq lymphoblastoid active region 13500 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,597,646...74,597,855 JBrowse link
G LOC130062721 ATAC-STARR-seq lymphoblastoid silent region 9545 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,597,956...74,598,255 JBrowse link
G LOC130062722 ATAC-STARR-seq lymphoblastoid active region 13501 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,598,646...74,598,865 JBrowse link
G LOC130062723 ATAC-STARR-seq lymphoblastoid active region 13502 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,773,219...74,773,428 JBrowse link
G LOC130062724 ATAC-STARR-seq lymphoblastoid active region 13503 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,797,227...74,797,586 JBrowse link
G LOC130062725 ATAC-STARR-seq lymphoblastoid active region 13504 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,807,129...74,807,178 JBrowse link
G LOC130062726 ATAC-STARR-seq lymphoblastoid silent region 9549 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:75,211,791...75,212,110 JBrowse link
G LOC130062727 ATAC-STARR-seq lymphoblastoid active region 13506 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:75,262,101...75,262,150 JBrowse link
G LOC130062728 ATAC-STARR-seq lymphoblastoid silent region 9550 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:76,410,747...76,410,846 JBrowse link
G LOC130062729 ATAC-STARR-seq lymphoblastoid active region 13507 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:76,411,037...76,411,116 JBrowse link
G LOC130062730 ATAC-STARR-seq lymphoblastoid silent region 9551 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:76,411,227...76,411,276 JBrowse link
G LOC130062731 ATAC-STARR-seq lymphoblastoid silent region 9552 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:76,456,095...76,456,174 JBrowse link
G LOC130062732 ATAC-STARR-seq lymphoblastoid silent region 9553 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:76,456,195...76,456,254 JBrowse link
G LOC130062733 ATAC-STARR-seq lymphoblastoid silent region 9554 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:76,491,554...76,491,643 JBrowse link
G LOC130062734 ATAC-STARR-seq lymphoblastoid active region 13508 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:76,492,304...76,492,353 JBrowse link
G LOC130062735 ATAC-STARR-seq lymphoblastoid active region 13509 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:76,493,034...76,493,173 JBrowse link
G LOC130062736 ATAC-STARR-seq lymphoblastoid silent region 9555 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:76,494,272...76,494,361 JBrowse link
G LOC130062737 ATAC-STARR-seq lymphoblastoid silent region 9556 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:76,495,062...76,495,161 JBrowse link
G LOC130062738 ATAC-STARR-seq lymphoblastoid silent region 9557 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:76,495,292...76,495,351 JBrowse link
G LOC130062739 ATAC-STARR-seq lymphoblastoid active region 13510 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:76,499,912...76,499,961 JBrowse link
G LOC130062740 ATAC-STARR-seq lymphoblastoid active region 13512 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:76,721,238...76,721,407 JBrowse link
G LOC130062741 ATAC-STARR-seq lymphoblastoid silent region 9558 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:76,802,276...76,802,325 JBrowse link
G LOC130062742 ATAC-STARR-seq lymphoblastoid active region 13513 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:76,811,591...76,811,680 JBrowse link
G LOC130062743 ATAC-STARR-seq lymphoblastoid silent region 9559 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:76,820,362...76,820,441 JBrowse link
G LOC130062744 ATAC-STARR-seq lymphoblastoid active region 13514 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:76,821,839...76,821,918 JBrowse link
G LOC130062745 ATAC-STARR-seq lymphoblastoid active region 13515 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:76,821,959...76,822,068 JBrowse link
G LOC130062746 ATAC-STARR-seq lymphoblastoid silent region 9560 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:76,822,139...76,822,328 JBrowse link
G LOC130062747 ATAC-STARR-seq lymphoblastoid silent region 9561 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:76,822,449...76,823,188 JBrowse link
G LOC130062748 ATAC-STARR-seq lymphoblastoid silent region 9562 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:76,964,222...76,964,271 JBrowse link
G LOC130062749 ATAC-STARR-seq lymphoblastoid active region 13516 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:76,981,308...76,981,367 JBrowse link
G LOC130062750 ATAC-STARR-seq lymphoblastoid active region 13521 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:77,063,214...77,063,303 JBrowse link
G LOC130062751 ATAC-STARR-seq lymphoblastoid active region 13522 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:77,067,324...77,067,413 JBrowse link
G LOC130062752 ATAC-STARR-seq lymphoblastoid active region 13523 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:77,070,102...77,070,281 JBrowse link
G LOC130062753 ATAC-STARR-seq lymphoblastoid active region 13524 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:77,080,256...77,080,305 JBrowse link
G LOC130062754 ATAC-STARR-seq lymphoblastoid active region 13526 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:77,101,541...77,101,670 JBrowse link
G LOC130062755 ATAC-STARR-seq lymphoblastoid active region 13527 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:77,101,761...77,101,830 JBrowse link
G LOC130062756 ATAC-STARR-seq lymphoblastoid silent region 9563 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:77,102,121...77,102,240 JBrowse link
G LOC130062757 ATAC-STARR-seq lymphoblastoid active region 13528 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:77,106,405...77,106,454 JBrowse link
G LOC130062758 ATAC-STARR-seq lymphoblastoid active region 13529 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:77,124,667...77,124,726 JBrowse link
G LOC130062759 ATAC-STARR-seq lymphoblastoid active region 13530 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:77,124,767...77,124,876 JBrowse link
G LOC130062760 ATAC-STARR-seq lymphoblastoid active region 13531 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:77,127,878...77,127,927 JBrowse link
G LOC130062761 ATAC-STARR-seq lymphoblastoid active region 13532 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:77,127,948...77,128,007 JBrowse link
G LOC130062762 ATAC-STARR-seq lymphoblastoid active region 13533 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:77,128,098...77,128,157 JBrowse link
G LOC130062763 ATAC-STARR-seq lymphoblastoid silent region 9564 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:77,131,748...77,133,047 JBrowse link
G LOC130062764 ATAC-STARR-seq lymphoblastoid active region 13534 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:77,209,326...77,209,385 JBrowse link
G LOC130062765 ATAC-STARR-seq lymphoblastoid active region 13535 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:77,622,202...77,622,251 JBrowse link
G LOC130062766 ATAC-STARR-seq lymphoblastoid silent region 9565 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:77,650,901...77,650,950 JBrowse link
G LOC130062767 ATAC-STARR-seq lymphoblastoid silent region 9566 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:77,651,011...77,651,070 JBrowse link
G LOC130062768 ATAC-STARR-seq lymphoblastoid active region 13536 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,156,753...79,157,022 JBrowse link
G LOC130062769 ATAC-STARR-seq lymphoblastoid silent region 9568 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,186,717...79,186,776 JBrowse link
G LOC130062770 ATAC-STARR-seq lymphoblastoid silent region 9569 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,246,581...79,246,790 JBrowse link
G LOC130062771 ATAC-STARR-seq lymphoblastoid active region 13537 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,276,336...79,276,405 JBrowse link
G LOC130062772 ATAC-STARR-seq lymphoblastoid silent region 9570 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,394,051...79,394,340 JBrowse link
G LOC130062773 ATAC-STARR-seq lymphoblastoid active region 13538 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,394,561...79,394,680 JBrowse link
G LOC130062774 ATAC-STARR-seq lymphoblastoid silent region 9571 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,395,766...79,396,165 JBrowse link
G LOC130062775 ATAC-STARR-seq lymphoblastoid silent region 9573 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,399,668...79,399,867 JBrowse link
G LOC130062776 ATAC-STARR-seq lymphoblastoid silent region 9574 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,400,288...79,400,527 JBrowse link
G LOC130062777 ATAC-STARR-seq lymphoblastoid active region 13539 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,404,837...79,404,896 JBrowse link
G LOC130062778 ATAC-STARR-seq lymphoblastoid active region 13540 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,460,397...79,460,756 JBrowse link
G LOC130062779 ATAC-STARR-seq lymphoblastoid silent region 9575 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,465,435...79,465,604 JBrowse link
G LOC130062780 ATAC-STARR-seq lymphoblastoid active region 13541 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,465,755...79,465,804 JBrowse link
G LOC130062781 ATAC-STARR-seq lymphoblastoid active region 13542 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,506,149...79,506,428 JBrowse link
G LOC130062782 ATAC-STARR-seq lymphoblastoid active region 13543 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,509,237...79,509,326 JBrowse link
G LOC130062783 ATAC-STARR-seq lymphoblastoid active region 13544 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,509,397...79,509,446 JBrowse link
G LOC130062784 ATAC-STARR-seq lymphoblastoid silent region 9576 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,524,714...79,524,783 JBrowse link
G LOC130062785 ATAC-STARR-seq lymphoblastoid active region 13545 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,819,898...79,820,037 JBrowse link
G LOC130062786 ATAC-STARR-seq lymphoblastoid silent region 9578 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,855,190...79,855,269 JBrowse link
G LOC130062787 ATAC-STARR-seq lymphoblastoid silent region 9579 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,944,265...79,944,324 JBrowse link
G LOC130062788 ATAC-STARR-seq lymphoblastoid silent region 9580 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,950,935...79,951,054 JBrowse link
G LOC130062789 ATAC-STARR-seq lymphoblastoid silent region 9581 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,951,095...79,951,174 JBrowse link
G LOC130062790 ATAC-STARR-seq lymphoblastoid silent region 9582 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,951,495...79,952,004 JBrowse link
G LOC130062791 ATAC-STARR-seq lymphoblastoid silent region 9583 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,952,135...79,952,184 JBrowse link
G LOC130062792 ATAC-STARR-seq lymphoblastoid active region 13547 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,963,125...79,963,204 JBrowse link
G LOC130062793 ATAC-STARR-seq lymphoblastoid silent region 9584 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,964,300...79,964,869 JBrowse link
G LOC130062794 ATAC-STARR-seq lymphoblastoid silent region 9585 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,988,376...79,988,615 JBrowse link
G LOC130062795 ATAC-STARR-seq lymphoblastoid silent region 9586 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,988,656...79,988,945 JBrowse link
G LOC130062796 ATAC-STARR-seq lymphoblastoid silent region 9587 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:80,033,720...80,033,889 JBrowse link
G LOC130062797 ATAC-STARR-seq lymphoblastoid silent region 9589 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:80,034,290...80,034,369 JBrowse link
G LOC130062798 ATAC-STARR-seq lymphoblastoid silent region 9590 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:80,034,480...80,034,629 JBrowse link
G LOC130062799 ATAC-STARR-seq lymphoblastoid active region 13548 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:80,105,249...80,105,358 JBrowse link
G LOC130062800 ATAC-STARR-seq lymphoblastoid silent region 9592 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:80,109,684...80,109,783 JBrowse link
G LOC130062801 ATAC-STARR-seq lymphoblastoid silent region 9593 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:80,147,481...80,147,640 JBrowse link
G LOC130062802 ATAC-STARR-seq lymphoblastoid active region 13549 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:80,148,331...80,148,430 JBrowse link
G LOC130062803 ATAC-STARR-seq lymphoblastoid active region 13550 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:80,148,451...80,148,530 JBrowse link
G LOC130062804 ATAC-STARR-seq lymphoblastoid silent region 9594 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:80,159,750...80,159,819 JBrowse link
G LOC130062805 ATAC-STARR-seq lymphoblastoid silent region 9595 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:80,247,680...80,247,739 JBrowse link
G LOC130062806 ATAC-STARR-seq lymphoblastoid active region 13551 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:80,258,073...80,258,122 JBrowse link
G LOC132090508 Neanderthal introgressed variant-containing enhancer experimental_49392 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:69,726,198...69,726,367 JBrowse link
G LOC132090509 Neanderthal introgressed variant-containing enhancer experimental_49413 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:70,430,291...70,430,460 JBrowse link
G LOC132090510 Neanderthal introgressed variant-containing enhancer experimental_49614 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:71,230,265...71,230,434 JBrowse link
G LOC132090511 Neanderthal introgressed variant-containing enhancer experimental_49625 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:71,242,681...71,242,850 JBrowse link
G LOC132090512 Neanderthal introgressed variant-containing enhancer experimental_49782 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:71,361,347...71,361,516 JBrowse link
G LOC132090513 Neanderthal introgressed variant-containing enhancer experimental_49950 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:73,342,517...73,342,686 JBrowse link
G LOC132090514 Neanderthal introgressed variant-containing enhancer experimental_49980 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:73,425,318...73,425,487 JBrowse link
G LOC132090515 Neanderthal introgressed variant-containing enhancer experimental_49987 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:73,450,579...73,450,748 JBrowse link
G LOC132090516 Neanderthal introgressed variant-containing enhancer experimental_50021 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:73,528,737...73,528,906 JBrowse link
G LOC132090517 Neanderthal introgressed variant-containing enhancer experimental_50059 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,012,248...74,012,417 JBrowse link
G LOC132090518 Neanderthal introgressed variant-containing enhancer experimental_50247 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,166,300...74,166,469 JBrowse link
G LOC132090519 Neanderthal introgressed variant-containing enhancer experimental_50279 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,275,984...74,276,153 JBrowse link
G LOC132090520 Neanderthal introgressed variant-containing enhancer experimental_50293 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,285,885...74,286,054 JBrowse link
G LOC132090521 Neanderthal introgressed variant-containing enhancer experimental_50301 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,291,755...74,291,924 JBrowse link
G LOC132090522 Neanderthal introgressed variant-containing enhancer experimental_50303 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,292,004...74,292,173 JBrowse link
G LOC132090523 Neanderthal introgressed variant-containing enhancer experimental_50307 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,292,882...74,293,051 JBrowse link
G LOC132090524 Neanderthal introgressed variant-containing enhancer experimental_50330 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,309,819...74,309,988 JBrowse link
G LOC132090525 Neanderthal introgressed variant-containing enhancer experimental_50334 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,310,864...74,311,033 JBrowse link
G LOC132090526 Neanderthal introgressed variant-containing enhancer experimental_50341 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,316,047...74,316,216 JBrowse link
G LOC132090527 Neanderthal introgressed variant-containing enhancer experimental_50347 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,348,955...74,349,124 JBrowse link
G LOC132090528 Neanderthal introgressed variant-containing enhancer experimental_50380 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:76,433,450...76,433,619 JBrowse link
G LOC132090529 Neanderthal introgressed variant-containing enhancer experimental_50500 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:77,956,470...77,956,639 JBrowse link
G LOC132090530 Neanderthal introgressed variant-containing enhancer experimental_50638 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,493,634...79,493,803 JBrowse link
G LOC132090900 Neanderthal introgressed variant-containing enhancer experimental_50263 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,269,107...74,269,276 JBrowse link
G LOC132090901 Neanderthal introgressed variant-containing enhancer experimental_50709 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,747,410...79,747,579 JBrowse link
G LOC132211114 Neanderthal introgressed variant-containing enhancers experimental_50353 and experimental_50354 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,364,662...74,364,956 JBrowse link
G LOC284240 uncharacterized LOC284240 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,579,282...79,589,018 JBrowse link
G LRP4 LDL receptor related protein 4 IAGP HPO OMIM:212780 NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642 		JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: Pulmonic stenosis ClinVar PMID:28492532 NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912 		JBrowse link
G LTBP2 latent transforming growth factor beta binding protein 2 IAGP HPO OMIM:614819 ORPHA:3449 NCBI chr14:74,498,183...74,612,237
Ensembl chr14:74,498,183...74,612,378 		JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 IAGP HPO OMIM:605275 OMIM:616564 NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 IAGP HPO OMIM:163950 OMIM: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 HPO OMIM:615280 ORPHA:1340 ORPHA:638 NCBI chr19:4,090,321...4,124,122
Ensembl chr19:4,090,321...4,124,122 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP HPO OMIM:617137 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086 		JBrowse link
G MBP myelin basic protein IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:76,978,833...77,133,708
Ensembl chr18:76,978,827...77,133,683 		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 MGP matrix Gla protein IAGP HPO OMIM:245150 NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857 		JBrowse link
G MIR548AV microRNA 548av IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:72,853,321...72,853,382
Ensembl chr18:72,853,321...72,853,382 		JBrowse link
G MLXIPL MLX interacting protein like IAGP HPO OMIM:194050 ORPHA:904 NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543 		JBrowse link
G MRAS muscle RAS oncogene homolog IAGP HPO OMIM:618499 NCBI chr 3:138,347,648...138,405,535
Ensembl chr 3:138,347,648...138,405,534 		JBrowse link
G MYH11 myosin heavy chain 11 IAGP ClinVar Annotator: match by term: Pulmonic stenosis ClinVar PMID:25741868 PMID:28492532 PMID:34498425 NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,857,028 		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 NEK8 NIMA related kinase 8 IAGP HPO OMIM:615415 NCBI chr17:28,728,788...28,743,455
Ensembl chr17:28,725,897...28,743,455 		JBrowse link
G NEK9 NIMA related kinase 9 IAGP HPO OMIM:614262 NCBI chr14:75,079,353...75,127,202
Ensembl chr14:75,079,353...75,127,344 		JBrowse link
G NETO1 neuropilin and tolloid like 1 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:72,742,314...72,867,987
Ensembl chr18:72,742,314...72,868,146 		JBrowse link
G NETO1-DT NETO1 divergent transcript IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:72,868,388...72,881,399
Ensembl chr18:72,868,388...72,881,404 		JBrowse link
G NF1 neurofibromin 1 IAGP HPO OMIM:193520 OMIM:601321 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 NFATC1 nuclear factor of activated T cells 1 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,395,930...79,529,323
Ensembl chr18:79,395,856...79,529,325 		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 NOTCH1 notch receptor 1 IAGP HPO OMIM:616028 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048 		JBrowse link
G NOTCH2 notch receptor 2 IAGP HPO OMIM:610205 NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP HPO OMIM:613224 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G NRXN1 neurexin 1 IAGP HPO OMIM:614325 NCBI chr 2:49,918,503...51,032,132
Ensembl chr 2:49,918,503...51,225,575 		JBrowse link
G OTUD5 OTU deubiquitinase 5 IAGP HPO OMIM:301056 NCBI chr  X:48,922,024...48,958,381
Ensembl chr  X:48,922,024...48,958,386 		JBrowse link
G PARD6G par-6 family cell polarity regulator gamma IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:80,157,232...80,247,514
Ensembl chr18:80,157,232...80,247,514 		JBrowse link
G PARD6G-AS1 PARD6G antisense RNA 1 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:80,147,924...80,178,432
Ensembl chr18:80,147,908...80,179,839 		JBrowse link
G PGAP1 post-GPI attachment to proteins inositol deacylase 1 IAGP HPO OMIM:615802 NCBI chr 2:196,833,004...196,926,707
Ensembl chr 2:196,833,004...196,927,796 		JBrowse link
G PLD1 phospholipase D1 IAGP HPO OMIM:212093 NCBI chr 3:171,600,404...171,810,483
Ensembl chr 3:171,600,404...171,810,950 		JBrowse link
G PLXND1 plexin D1 IAGP HPO OMIM:620294 ORPHA:3384 NCBI chr 3:129,555,214...129,606,676
Ensembl chr 3:129,555,214...129,606,676 		JBrowse link
G POLR3A RNA polymerase III subunit A IAGP HPO ORPHA:3455 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522 		JBrowse link
G PPP1CB protein phosphatase 1 catalytic subunit beta IAGP HPO OMIM:617506 ORPHA:2701 NCBI chr 2:28,751,604...28,802,940
Ensembl chr 2:28,751,640...28,802,940 		JBrowse link
G PRDM5 PR/SET domain 5 IAGP HPO ORPHA:90354 NCBI chr 4:120,684,291...120,922,726
Ensembl chr 4:120,684,919...120,922,870 		JBrowse link
G PSMD12 proteasome 26S subunit, non-ATPase 12 IAGP HPO ORPHA:529962 NCBI chr17:67,337,916...67,366,577
Ensembl chr17:67,337,916...67,366,605 		JBrowse link
G PTGR3 prostaglandin reductase 3 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:75,195,108...75,209,139
Ensembl chr18:75,195,113...75,209,139 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 susceptibility IAGP DNA:snp:intron:c.757-4333A>G (rs11066320) HPO
RGD		 PMID:22503907 OMIM:151100 OMIM:156250 OMIM:163950 ORPHA:500, RGD:12743641 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G RAB23 RAB23, member RAS oncogene family IAGP HPO OMIM:201000 NCBI chr 6:57,186,992...57,222,307
Ensembl chr 6:57,186,992...57,222,307 		JBrowse link
G RAD21 RAD21 cohesin complex component IAGP HPO OMIM:611376 NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP HPO OMIM:611553 ORPHA:500 NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201 		JBrowse link
G RAP1B RAP1B, member of RAS oncogene family IAGP HPO OMIM:620654 NCBI chr12:68,610,899...68,671,901
Ensembl chr12:68,610,855...68,671,901 		JBrowse link
G RBFA ribosome binding factor A IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:80,034,434...80,050,651
Ensembl chr18:80,034,389...80,050,651 		JBrowse link
G RBFADN RBFA downstream neighbor IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:80,067,256...80,081,304
Ensembl chr18:80,046,900...80,095,482 		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 RIT1 Ras like without CAAX 1 IAGP DNA:missense mutation:exon:multiple 9human) HPO
RGD		 PMID:26714497 OMIM:615355, RGD:11086309 NCBI chr 1:155,897,808...155,911,349
Ensembl chr 1:155,897,808...155,911,404 		JBrowse link
G RNF135 ring finger protein 135 IAGP HPO ORPHA:137634 NCBI chr17:30,958,921...30,999,911
Ensembl chr17:30,970,984...30,999,911 		JBrowse link
G RPL27 ribosomal protein L27 IAGP HPO OMIM:617408 NCBI chr17:42,998,273...43,002,959
Ensembl chr17:42,998,273...43,002,959 		JBrowse link
G RTTN rotatin IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:70,003,031...70,205,687
Ensembl chr18:70,003,031...70,205,726 		JBrowse link
G SALL3 spalt like transcription factor 3 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:78,979,818...78,998,969
Ensembl chr18:78,979,818...79,002,677 		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 SGO1 shugoshin 1 IAGP HPO OMIM:616201 NCBI chr 3:20,160,593...20,186,886
Ensembl chr 3:20,160,593...20,186,206 		JBrowse link
G SHOC2 SHOC2 leucine rich repeat scaffold protein IAGP HPO OMIM:607721 ORPHA:2701 NCBI chr10:110,919,370...111,013,665
Ensembl chr10:110,919,367...111,017,307 		JBrowse link
G SKIC3 SKI3 subunit of superkiller complex IAGP HPO OMIM:222470 NCBI chr 5:95,463,894...95,554,977
Ensembl chr 5:95,461,755...95,555,050 		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 SLC66A2 solute carrier family 66 member 2 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,902,420...79,951,653
Ensembl chr18:79,902,420...79,951,657 		JBrowse link
G SMAD2 SMAD family member 2 IAGP HPO OMIM:619657 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 OMIM:613795 ORPHA:284984 NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173 		JBrowse link
G SMAD6 SMAD family member 6 IAGP HPO OMIM:614823 NCBI chr15:66,702,236...66,782,849
Ensembl chr15:66,702,236...66,782,849 		JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 IAGP HPO OMIM:614609 NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426 		JBrowse link
G SMC3 structural maintenance of chromosomes 3 IAGP HPO OMIM:610759 NCBI chr10:110,567,695...110,606,048
Ensembl chr10:110,567,684...110,606,048 		JBrowse link
G SMC5 structural maintenance of chromosomes 5 IAGP HPO OMIM:620185 NCBI chr 9:70,258,978...70,354,873
Ensembl chr 9:70,258,978...70,354,873 		JBrowse link
G SMIM21 small integral membrane protein 21 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:75,409,476...75,427,703
Ensembl chr18:75,409,476...75,427,703 		JBrowse link
G SOCS6 suppressor of cytokine signaling 6 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:70,289,045...70,330,199
Ensembl chr18:70,289,045...70,330,199 		JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP associated with Noonan Syndrome;DNA:missense mutations:CDS:multiple
ClinVar Annotator: match by term: Pulmonic stenosis		 HPO
ClinVar
RGD		 PMID:17143285 PMID:17586837 PMID:20186801 PMID:21387466 PMID:22494877 More... OMIM:610733, RGD:11063543, RGD:11068376 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 OMIM:616559 NCBI chr14:50,117,130...50,231,882
Ensembl chr14:50,117,130...50,231,578 		JBrowse link
G SOX3 SRY-box transcription factor 3 IAGP ClinVar Annotator: match by term: Narrowing of pulmonic valve ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr  X:140,502,985...140,505,069
Ensembl chr  X:140,502,985...140,505,069 		JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 IAGP HPO ORPHA:137605 NCBI chr15:38,252,836...38,357,249
Ensembl chr15:38,252,836...38,357,249 		JBrowse link
G SPRED2 sprouty related EVH1 domain containing 2 IAGP HPO OMIM:619745 NCBI chr 2:65,307,175...65,432,599
Ensembl chr 2:65,310,851...65,432,637 		JBrowse link
G STRA6 signaling receptor and transporter of retinol STRA6 IAGP HPO OMIM:601186 NCBI chr15:74,179,466...74,212,259
Ensembl chr15:74,179,466...74,212,267 		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 TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 IAGP HPO ORPHA:228410 NCBI chr 6:149,217,926...149,411,607
Ensembl chr 6:149,218,641...149,411,613 		JBrowse link
G TBCK TBC1 domain containing kinase IAGP HPO ORPHA:488632 NCBI chr 4:106,041,599...106,316,683
Ensembl chr 4:106,041,599...106,316,683 		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 TBX2 T-box transcription factor 2 IAGP HPO OMIM:618223 NCBI chr17:61,399,843...61,409,466
Ensembl chr17:61,399,843...61,409,466 		JBrowse link
G TBX5 T-box transcription factor 5 IAGP HPO OMIM:142900 NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442 		JBrowse link
G TIMM21 translocase of inner mitochondrial membrane 21 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,148,523...74,160,531
Ensembl chr18:74,148,523...74,160,531 		JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 IAGP ClinVar Annotator: match by term: Narrowing of pulmonic valve ClinVar PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227 NCBI chr 1:165,724,291...165,768,922
Ensembl chr 1:165,724,293...165,827,755 		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 TSHZ1 teashirt zinc finger homeobox 1 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:75,210,797...75,289,944
Ensembl chr18:75,210,755...75,289,950 		JBrowse link
G TXNL4A thioredoxin like 4A IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:79,970,813...80,033,936
Ensembl chr18:79,970,813...80,033,949 		JBrowse link
G VPS35L VPS35 endosomal protein sorting factor like IAGP HPO ORPHA:7 NCBI chr16:19,555,703...19,701,163
Ensembl chr16:19,555,240...19,706,793 		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 WAC WW domain containing adaptor with coiled-coil IAGP HPO ORPHA:284169 NCBI chr10:28,532,779...28,623,112
Ensembl chr10:28,532,493...28,623,112 		JBrowse link
G WASHC5 WASH complex subunit 5 IAGP HPO OMIM:220210 ORPHA:7 NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819 		JBrowse link
G WNT4 Wnt family member 4 IAGP HPO ORPHA:139466 NCBI chr 1:22,117,313...22,143,097
Ensembl chr 1:22,117,313...22,143,969 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP HPO OMIM:235730 ORPHA:261537 ORPHA:261552 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057 		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
G ZNF236 zinc finger protein 236 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:76,822,557...76,972,901
Ensembl chr18:76,822,557...76,972,901 		JBrowse link
G ZNF236-DT ZNF236 divergent transcript IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:76,794,732...76,822,295
Ensembl chr18:76,794,732...76,822,295 		JBrowse link
G ZNF341 zinc finger protein 341 IAGP HPO OMIM:618282 NCBI chr20:33,731,996...33,792,269
Ensembl chr20:33,731,657...33,792,269 		JBrowse link
G ZNF407 zinc finger protein 407 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,597,870...75,065,671
Ensembl chr18:74,597,870...75,065,671 		JBrowse link
G ZNF407-AS1 ZNF407 antisense RNA 1 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:74,591,774...74,597,835
Ensembl chr18:74,590,317...74,598,885 		JBrowse link
G ZNF469 zinc finger protein 469 IAGP HPO ORPHA:90354 NCBI chr16:88,100,931...88,440,753
Ensembl chr16:88,382,959...88,440,757 		JBrowse link
G ZNF516 zinc finger protein 516 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:76,357,682...76,496,419
Ensembl chr18:76,357,682...76,495,242 		JBrowse link
G ZNF516-AS1 ZNF516 antisense RNA 1 IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:76,491,652...76,493,918
Ensembl chr18:76,491,629...76,493,920 		JBrowse link
G ZNF516-DT ZNF516 divergent transcript IAGP ClinVar Annotator: match by term: Pulmonary valve stenosis ClinVar PMID:25741868 NCBI chr18:76,495,339...76,498,089
Ensembl chr18:76,495,521...76,498,088 		JBrowse link
G ZNF526 zinc finger protein 526 IAGP ClinVar Annotator: match by term: Pulmonic stenosis ClinVar PMID:25558065 PMID:25741868 NCBI chr19:42,220,312...42,228,201
Ensembl chr19:42,220,292...42,228,201 		JBrowse link
G ZNF699 zinc finger protein 699 IAGP HPO OMIM:619488 NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838 		JBrowse link
Subpulmonary stenosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLD1 phospholipase D1 IAGP HPO OMIM:212093 NCBI chr 3:171,600,404...171,810,483
Ensembl chr 3:171,600,404...171,810,950 		JBrowse link
Supravalvar pulmonary stenosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMC5 structural maintenance of chromosomes 5 IAGP HPO OMIM:620185 NCBI chr 9:70,258,978...70,354,873
Ensembl chr 9:70,258,978...70,354,873 		JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 IAGP HPO OMIM:611431 NCBI chr15:38,252,836...38,357,249
Ensembl chr15:38,252,836...38,357,249 		JBrowse link
G TRAF7 TNF receptor associated factor 7 IAGP HPO OMIM:618164 NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129 		JBrowse link
Valvular pulmonary stenosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCNQ cyclin Q IAGP HPO OMIM:300707 NCBI chr  X:153,587,925...153,599,139
Ensembl chr  X:153,587,925...153,600,045 		JBrowse link
G PLD1 phospholipase D1 IAGP HPO OMIM:212093 NCBI chr 3:171,600,404...171,810,483
Ensembl chr 3:171,600,404...171,810,950 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21564
    Phenotypic abnormality 21554
      Abnormality of the cardiovascular system 3983
        Abnormal cardiovascular system physiology 2257
          Abnormal heart valve physiology 705
            Abnormal pulmonary valve physiology 451
              Pulmonic stenosis 425
                Subpulmonary stenosis 1
                Supravalvar pulmonary stenosis 3
                Valvular pulmonary stenosis 2
paths to the root