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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:Abnormality of the pulmonary vasculature
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Accession:HP:0004930 term browser browse the term
Synonyms:exact_synonym: Abnormality of the lung blood vessels
 xref: UMLS:C4025271


show annotations for term's descendants           Sort by:
Abnormality of the pulmonary vasculature term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXC2 forkhead box C2 IAGP HPO ORPHA:33001 NCBI chr16:86,566,829...86,569,728
Ensembl chr16:86,566,829...86,569,728 		JBrowse link
G PORCN porcupine O-acyltransferase IAGP HPO ORPHA:2092 NCBI chr  X:48,508,992...48,520,814
Ensembl chr  X:48,508,959...48,520,814 		JBrowse link
Abnormal pulmonary vein morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GLCT beta 3-glucosyltransferase IAGP HPO ORPHA:709 NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276 		JBrowse link
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 IAGP HPO ORPHA:199241 NCBI chr15:39,934,115...40,035,591
Ensembl chr15:39,934,115...40,035,591 		JBrowse link
Abnormality of the pulmonary artery term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGGF1 angiogenic factor with G-patch and FHA domains 1 IAGP HPO ORPHA:90308 NCBI chr 5:77,030,404...77,065,234
Ensembl chr 5:77,029,251...77,065,234 		JBrowse link
G B3GLCT beta 3-glucosyltransferase IAGP HPO ORPHA:709 NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:500 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G EDNRB endothelin receptor type B IAGP HPO ORPHA:895 NCBI chr13:77,895,487...77,975,527
Ensembl chr13:77,895,481...77,975,529 		JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 IAGP HPO ORPHA:1065 NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,506 		JBrowse link
G KITLG KIT ligand IAGP HPO ORPHA:895 NCBI chr12:88,492,793...88,580,471
Ensembl chr12:88,492,793...88,580,851 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:363618 ORPHA:79474 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G MITF melanocyte inducing transcription factor IAGP HPO ORPHA:895 NCBI chr 3:69,739,464...69,968,332
Ensembl chr 3:69,739,456...69,968,336 		JBrowse link
G PAX6 paired box 6 IAGP HPO ORPHA:1065 NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:90308 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP HPO ORPHA:500 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:500 NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201 		JBrowse link
G SNAI2 snail family transcriptional repressor 2 IAGP HPO ORPHA:895 NCBI chr 8:48,917,598...48,921,429
Ensembl chr 8:48,917,598...48,921,740 		JBrowse link
G SOX10 SRY-box transcription factor 10 IAGP HPO ORPHA:895 NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422 		JBrowse link
G TYR tyrosinase IAGP HPO ORPHA:895 NCBI chr11:89,177,875...89,295,759
Ensembl chr11:89,177,875...89,295,759 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP HPO ORPHA:261537 ORPHA:261552 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057 		JBrowse link
Absent pulmonary artery term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRTAP cartilage associated protein IAGP HPO MIM:610682 NCBI chr 3:33,114,014...33,147,773
Ensembl chr 3:33,114,014...33,147,773 		JBrowse link
Agenesis of pulmonary vessels term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STRA6 signaling receptor and transporter of retinol STRA6 IAGP HPO MIM:601186 NCBI chr15:74,179,466...74,212,259
Ensembl chr15:74,179,466...74,212,267 		JBrowse link
Anomalous origin of one pulmonary artery from ascending aorta term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 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 TBX1 T-box transcription factor 1 IAGP HPO ORPHA:3384 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593 		JBrowse link
Anomalous pulmonary venous return term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFF4 ALF transcription elongation factor 4 IAGP HPO MIM:616368 NCBI chr 5:132,875,395...132,963,634
Ensembl chr 5:132,875,395...132,963,634 		JBrowse link
G CCDC39 coiled-coil domain 39 molecular ruler complex subunit IAGP HPO ORPHA:244 NCBI chr 3:180,614,008...180,679,489
Ensembl chr 3:180,602,858...180,684,942 		JBrowse link
G CCDC40 coiled-coil domain 40 molecular ruler complex subunit IAGP HPO ORPHA:244 NCBI chr17:80,036,642...80,100,613
Ensembl chr17:80,036,632...80,100,613 		JBrowse link
G CCDC65 coiled-coil domain containing 65 IAGP HPO ORPHA:244 NCBI chr12:48,904,133...48,921,576
Ensembl chr12:48,904,110...48,931,840 		JBrowse link
G CCNO cyclin O IAGP HPO ORPHA:244 NCBI chr 5:55,231,152...55,233,608
Ensembl chr 5:55,231,152...55,233,608 		JBrowse link
G CFAP221 cilia and flagella associated protein 221 IAGP HPO ORPHA:244 NCBI chr 2:119,544,449...119,660,323
Ensembl chr 2:119,544,432...119,662,251 		JBrowse link
G CFAP298 cilia and flagella associated protein 298 IAGP HPO ORPHA:244 NCBI chr21:32,599,354...32,612,377
Ensembl chr21:32,592,079...32,612,603 		JBrowse link
G CFAP300 cilia and flagella associated protein 300 IAGP HPO ORPHA:244 NCBI chr11:102,047,437...102,084,554
Ensembl chr11:102,047,437...102,084,554 		JBrowse link
G CFAP74 cilia and flagella associated protein 74 IAGP HPO ORPHA:244 NCBI chr 1:1,921,957...2,003,786
Ensembl chr 1:1,921,951...2,003,837 		JBrowse link
G CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 IAGP HPO MIM:614433 ORPHA:99105 NCBI chr 6:139,371,807...139,374,648
Ensembl chr 6:139,371,807...139,374,648 		JBrowse link
G DHCR24 24-dehydrocholesterol reductase IAGP HPO ORPHA:35107 NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195 		JBrowse link
G DLL3 delta like canonical Notch ligand 3 IAGP HPO ORPHA:2311 NCBI chr19:39,498,947...39,508,469
Ensembl chr19:39,498,895...39,508,481 		JBrowse link
G DNAAF1 dynein axonemal assembly factor 1 IAGP HPO ORPHA:244 NCBI chr16:84,145,308...84,177,920
Ensembl chr16:84,145,287...84,178,767 		JBrowse link
G DNAAF11 dynein axonemal assembly factor 11 IAGP HPO ORPHA:244 NCBI chr 8:132,570,416...132,702,913
Ensembl chr 8:132,570,416...132,675,592 		JBrowse link
G DNAAF2 dynein axonemal assembly factor 2 IAGP HPO ORPHA:244 NCBI chr14:49,625,174...49,635,244
Ensembl chr14:49,625,174...49,635,244 		JBrowse link
G DNAAF3 dynein axonemal assembly factor 3 IAGP HPO ORPHA:244 NCBI chr19:55,158,661...55,166,722
Ensembl chr19:55,158,661...55,166,722 		JBrowse link
G DNAAF4 dynein axonemal assembly factor 4 IAGP HPO ORPHA:244 NCBI chr15:55,417,755...55,508,234
Ensembl chr15:55,410,525...55,508,234 		JBrowse link
G DNAAF5 dynein axonemal assembly factor 5 IAGP HPO ORPHA:244 NCBI chr 7:726,699...786,475
Ensembl chr 7:726,699...786,475 		JBrowse link
G DNAAF6 dynein axonemal assembly factor 6 IAGP HPO ORPHA:244 NCBI chr  X:107,206,611...107,244,247
Ensembl chr  X:107,206,611...107,244,247 		JBrowse link
G DNAH1 dynein axonemal heavy chain 1 IAGP HPO ORPHA:244 NCBI chr 3:52,310,920...52,400,492
Ensembl chr 3:52,316,319...52,400,492 		JBrowse link
G DNAH11 dynein axonemal heavy chain 11 IAGP HPO ORPHA:244 NCBI chr 7:21,543,039...21,901,839
Ensembl chr 7:21,543,039...21,901,839 		JBrowse link
G DNAH5 dynein axonemal heavy chain 5 IAGP HPO ORPHA:244 NCBI chr 5:13,690,328...14,011,818
Ensembl chr 5:13,690,328...14,011,818 		JBrowse link
G DNAH9 dynein axonemal heavy chain 9 IAGP HPO ORPHA:244 NCBI chr17:11,598,470...11,969,748
Ensembl chr17:11,598,470...11,969,748 		JBrowse link
G DNAI1 dynein axonemal intermediate chain 1 IAGP HPO ORPHA:244 NCBI chr 9:34,458,805...34,520,984
Ensembl chr 9:34,457,414...34,520,988 		JBrowse link
G DNAI2 dynein axonemal intermediate chain 2 IAGP HPO ORPHA:244 NCBI chr17:74,274,234...74,314,884
Ensembl chr17:74,274,234...74,314,884 		JBrowse link
G DNAJB13 DnaJ heat shock protein family (Hsp40) member B13 IAGP HPO ORPHA:244 NCBI chr11:73,951,026...73,970,281
Ensembl chr11:73,951,026...73,970,366 		JBrowse link
G DNAL1 dynein axonemal light chain 1 IAGP HPO ORPHA:244 NCBI chr14:73,644,986...73,703,732
Ensembl chr14:73,644,875...73,703,732 		JBrowse link
G DRC1 dynein regulatory complex subunit 1 IAGP HPO ORPHA:244 NCBI chr 2:26,401,920...26,456,711
Ensembl chr 2:26,401,920...26,456,711 		JBrowse link
G FOXJ1 forkhead box J1 IAGP HPO ORPHA:244 NCBI chr17:76,136,333...76,141,245
Ensembl chr17:76,136,333...76,141,245 		JBrowse link
G GAS2L2 growth arrest specific 2 like 2 IAGP HPO ORPHA:244 NCBI chr17:35,744,511...35,753,239
Ensembl chr17:35,744,511...35,753,239 		JBrowse link
G GAS8 growth arrest specific 8 IAGP HPO ORPHA:244 NCBI chr16:90,019,633...90,044,960
Ensembl chr16:90,019,629...90,044,975 		JBrowse link
G HES7 hes family bHLH transcription factor 7 IAGP HPO ORPHA:2311 NCBI chr17:8,120,592...8,126,634
Ensembl chr17:8,120,592...8,124,106 		JBrowse link
G HYDIN HYDIN axonemal central pair apparatus protein IAGP HPO ORPHA:244 NCBI chr16:70,802,084...71,230,722
Ensembl chr16:70,802,084...71,230,722 		JBrowse link
G LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase IAGP HPO ORPHA:2311 NCBI chr 7:2,512,529...2,529,177
Ensembl chr 7:2,512,529...2,529,177 		JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP HPO ORPHA:244 NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912 		JBrowse link
G MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein IAGP HPO ORPHA:244 NCBI chr 5:55,219,564...55,227,315
Ensembl chr 5:55,219,564...55,227,315 		JBrowse link
G MESP2 mesoderm posterior bHLH transcription factor 2 IAGP HPO ORPHA:2311 NCBI chr15:89,776,332...89,778,754
Ensembl chr15:89,760,591...89,778,754 		JBrowse link
G NEK10 NIMA related kinase 10 IAGP HPO ORPHA:244 NCBI chr 3:27,106,484...27,369,383
Ensembl chr 3:27,106,484...27,369,460 		JBrowse link
G NME5 NME/NM23 family member 5 IAGP HPO ORPHA:244 NCBI chr 5:138,115,175...138,139,428
Ensembl chr 5:138,115,175...138,139,443 		JBrowse link
G NME8 NME/NM23 family member 8 IAGP HPO ORPHA:244 NCBI chr 7:37,848,597...37,900,397
Ensembl chr 7:37,848,597...37,900,397 		JBrowse link
G ODAD1 outer dynein arm docking complex subunit 1 IAGP HPO ORPHA:244 NCBI chr19:48,296,452...48,321,971
Ensembl chr19:48,296,457...48,321,971 		JBrowse link
G ODAD2 outer dynein arm docking complex subunit 2 IAGP HPO ORPHA:244 NCBI chr10:27,812,168...27,999,675
Ensembl chr10:27,775,186...27,999,079 		JBrowse link
G ODAD3 outer dynein arm docking complex subunit 3 IAGP HPO ORPHA:244 NCBI chr19:11,420,605...11,435,782
Ensembl chr19:11,420,604...11,435,782 		JBrowse link
G ODAD4 outer dynein arm docking complex subunit 4 IAGP HPO ORPHA:244 NCBI chr17:41,930,617...41,966,503
Ensembl chr17:41,930,617...41,966,503 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO ORPHA:244 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955 		JBrowse link
G RERE arginine-glutamic acid dipeptide repeats IAGP HPO MIM:616975 NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921 		JBrowse link
G RIPPLY2 ripply transcriptional repressor 2 IAGP HPO ORPHA:2311 NCBI chr 6:83,853,229...83,857,515
Ensembl chr 6:83,853,360...83,857,515 		JBrowse link
G RPGR retinitis pigmentosa GTPase regulator IAGP HPO ORPHA:244 NCBI chr  X:38,269,163...38,327,509
Ensembl chr  X:38,269,163...38,327,544 		JBrowse link
G RSPH1 radial spoke head component 1 IAGP HPO ORPHA:244 NCBI chr21:42,472,486...42,496,224
Ensembl chr21:42,472,486...42,496,246 		JBrowse link
G RSPH3 radial spoke head 3 IAGP HPO ORPHA:244 NCBI chr 6:158,962,980...159,000,202
Ensembl chr 6:158,970,084...159,000,202 		JBrowse link
G RSPH4A radial spoke head component 4A IAGP HPO ORPHA:244 NCBI chr 6:116,616,479...116,632,985
Ensembl chr 6:116,616,479...116,632,985 		JBrowse link
G RSPH9 radial spoke head component 9 IAGP HPO ORPHA:244 NCBI chr 6:43,645,036...43,672,600
Ensembl chr 6:43,645,036...43,672,600 		JBrowse link
G SMAD2 SMAD family member 2 IAGP ClinVar Annotator: match by term: Anomalous pulmonary venous return ClinVar
HPO		 MIM:619657 NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146 		JBrowse link
G SPAG1 sperm associated antigen 1 IAGP HPO ORPHA:244 NCBI chr 8:100,158,038...100,241,904
Ensembl chr 8:100,157,906...100,259,278 		JBrowse link
G SPEF2 sperm flagellar 2 IAGP HPO ORPHA:244 NCBI chr 5:35,617,863...35,814,611
Ensembl chr 5:35,617,844...35,814,611 		JBrowse link
G STK36 serine/threonine kinase 36 IAGP HPO ORPHA:244 NCBI chr 2:218,672,086...218,702,717
Ensembl chr 2:218,672,069...218,702,716 		JBrowse link
G TBX5 T-box transcription factor 5 IAGP HPO ORPHA:392 NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442 		JBrowse link
G TTC12 tetratricopeptide repeat domain 12 IAGP HPO ORPHA:244 NCBI chr11:113,314,583...113,373,297
Ensembl chr11:113,314,579...113,383,544 		JBrowse link
G WT1 WT1 transcription factor IAGP HPO ORPHA:3097 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
G ZMYND10 zinc finger MYND-type containing 10 IAGP HPO ORPHA:244 NCBI chr 3:50,341,112...50,345,732
Ensembl chr 3:50,341,110...50,345,732 		JBrowse link
Cardiac total anomalous pulmonary venous connection term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WT1 WT1 transcription factor IAGP HPO MIM:608978 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
Hypoplastic pulmonary veins term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRTAP cartilage associated protein IAGP HPO MIM:610682 NCBI chr 3:33,114,014...33,147,773
Ensembl chr 3:33,114,014...33,147,773 		JBrowse link
G GDF1 growth differentiation factor 1 IAGP HPO MIM:613854 NCBI chr19:18,868,545...18,896,158
Ensembl chr19:18,868,545...18,896,158 		JBrowse link
G RSPO2 R-spondin 2 IAGP HPO MIM:618021 NCBI chr 8:107,899,316...108,083,620
Ensembl chr 8:107,899,316...108,083,642 		JBrowse link
Misalignment of the pulmonary veins term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXF1 forkhead box F1 IAGP HPO MIM:265380 NCBI chr16:86,510,527...86,515,422
Ensembl chr16:86,510,527...86,515,422 		JBrowse link
G SFTPB surfactant protein B IAGP HPO MIM:265120 NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741 		JBrowse link
Partial anomalous pulmonary venous return term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CIROP ciliated left-right organizer metallopeptidase IAGP HPO MIM:619702 NCBI chr14:23,099,062...23,104,989
Ensembl chr14:23,099,062...23,104,989 		JBrowse link
G FOXF1 forkhead box F1 IAGP HPO MIM:265380 NCBI chr16:86,510,527...86,515,422
Ensembl chr16:86,510,527...86,515,422 		JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO MIM:301068 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G MYRF myelin regulatory factor IAGP HPO MIM:618280 NCBI chr11:61,752,636...61,788,518
Ensembl chr11:61,752,636...61,788,518 		JBrowse link
G NODAL nodal growth differentiation factor IAGP HPO MIM:270100 NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951 		JBrowse link
G SMAD2 SMAD family member 2 IAGP HPO MIM:619657 NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP HPO MIM:301044 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728 		JBrowse link
G TMEM260 transmembrane protein 260 IAGP HPO MIM:617478 NCBI chr14:56,579,525...56,663,165
Ensembl chr14:56,488,354...56,650,606 		JBrowse link
G WT1 WT1 transcription factor IAGP HPO MIM:608978 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
Peripheral pulmonary artery stenosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 IAGP HPO ORPHA:90348 NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711 		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 BCOR BCL6 corepressor IAGP HPO ORPHA:2712 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329 		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 CCNQ cyclin Q IAGP HPO MIM:300707 NCBI chr  X:153,587,925...153,599,139
Ensembl chr  X:153,587,925...153,600,045 		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 DLX3 distal-less homeobox 3 IAGP ClinVar Annotator: match by term: Narrowing of peripheral lung artery ClinVar PMID:25741868 NCBI chr17:49,990,005...49,995,224
Ensembl chr17:49,990,005...49,995,224 		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 EFEMP2 EGF containing fibulin extracellular matrix protein 2 IAGP HPO ORPHA:90349 NCBI chr11:65,866,441...65,872,800
Ensembl chr11:65,866,441...65,873,592 		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 MIM:123700 MIM:194050 ORPHA:90348 ORPHA:904 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G FBLN5 fibulin 5 IAGP HPO MIM:219100 ORPHA:90348 ORPHA:90349 NCBI chr14:91,869,411...91,947,694
Ensembl chr14:91,869,411...91,947,987 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO MIM:613001 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		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 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 IFT43 intraflagellar transport 43 IAGP HPO MIM:614099 NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585 		JBrowse link
G JAG1 jagged canonical Notch ligand 1 IAGP HPO MIM:118450 MIM:617992 NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999 		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 LTBP1 latent transforming growth factor beta binding protein 1 IAGP HPO ORPHA:90349 NCBI chr 2:32,946,953...33,399,509
Ensembl chr 2:32,946,953...33,399,509 		JBrowse link
G LTBP4 latent transforming growth factor beta binding protein 4 IAGP HPO MIM:613177 NCBI chr19:40,593,166...40,629,820
Ensembl chr19:40,592,883...40,629,818 		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 MIM:245150 NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857 		JBrowse link
G MLXIPL MLX interacting protein like IAGP HPO MIM:194050 NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP HPO MIM:300855 NCBI chr  X:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080 		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 NOTCH2 notch receptor 2 IAGP HPO MIM:610205 NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779 		JBrowse link
G PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP HPO MIM:280000 NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797 		JBrowse link
G PIGN phosphatidylinositol glycan anchor biosynthesis class N IAGP HPO ORPHA:280633 NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118 		JBrowse link
G PIGO phosphatidylinositol glycan anchor biosynthesis class O IAGP HPO MIM:614749 NCBI chr 9:35,088,688...35,096,591
Ensembl chr 9:35,085,493...35,096,619 		JBrowse link
G PPP1CB protein phosphatase 1 catalytic subunit beta IAGP HPO MIM:617506 NCBI chr 2:28,751,604...28,802,940
Ensembl chr 2:28,751,640...28,802,940 		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 SKIC2 SKI2 subunit of superkiller complex IAGP HPO ORPHA:84064 NCBI chr 6:31,959,175...31,969,751
Ensembl chr 6:31,959,116...31,969,818 		JBrowse link
G SKIC3 SKI3 subunit of superkiller complex IAGP HPO ORPHA:84064 NCBI chr 5:95,463,894...95,554,977
Ensembl chr 5:95,461,755...95,555,050 		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 TAOK1 TAO kinase 1 IAGP HPO MIM:619575 NCBI chr17:29,390,363...29,551,903
Ensembl chr17:29,390,363...29,551,903 		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 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 UBE2A ubiquitin conjugating enzyme E2 A IAGP HPO ORPHA:163956 NCBI chr  X:119,574,563...119,584,423
Ensembl chr  X:119,474,802...119,591,083 		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
Peripheral pulmonary vessel aplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WNT3 Wnt family member 3 IAGP HPO MIM:273395 NCBI chr17:46,762,506...46,818,692
Ensembl chr17:46,762,506...46,833,154 		JBrowse link
Pulmonary arterial medial hypertrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPR2 bone morphogenetic protein receptor type 2 IAGP HPO MIM:178600 NCBI chr 2:202,376,327...202,567,749
Ensembl chr 2:202,376,327...202,567,751 		JBrowse link
G LIFR LIF receptor subunit alpha IAGP HPO MIM:601559 NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354 		JBrowse link
Pulmonary arteriovenous malformation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVRL1 activin A receptor like type 1 IAGP HPO MIM:600376 ORPHA:774 NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361 		JBrowse link
G CAV1 caveolin 1 IAGP HPO MIM:606721 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179 		JBrowse link
G CIAO3 cytosolic iron-sulfur assembly component 3 IAGP ClinVar Annotator: match by term: Pulmonary arteriovenous malformation ClinVar NCBI chr16:729,765...740,997
Ensembl chr16:729,760...741,329 		JBrowse link
G ENG endoglin IAGP DNA:mutations:multiple:
associated with Telangiectasia, Hereditary Hemorrhagic;DNA:mutations:		 HPO
RGD		 PMID:9245986 PMID:16752392 MIM:187300 ORPHA:774, RGD:11041183, RGD:11035216 NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773 		JBrowse link
G GDF2 growth differentiation factor 2 IAGP HPO ORPHA:774 NCBI chr10:47,322,454...47,327,588
Ensembl chr10:47,322,454...47,327,588 		JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO MIM:175050 ORPHA:774 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
Pulmonary artery aneurysm term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BGN biglycan IAGP HPO MIM:300989 NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,494,980...153,509,546 		JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP HPO ORPHA:286 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746 		JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP HPO MIM:619329 NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843 		JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 IAGP HPO MIM:614437 NCBI chr11:65,866,441...65,872,800
Ensembl chr11:65,866,441...65,873,592 		JBrowse link
G IPO8 importin 8 IAGP HPO MIM:619472 NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869 		JBrowse link
G POLR1A RNA polymerase I subunit A IAGP HPO MIM:616462 NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP HPO MIM:609192 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 MIM:610168 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
Pulmonary artery atresia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVR2B activin A receptor type 2B IAGP HPO MIM:613751 NCBI chr 3:38,453,890...38,493,142
Ensembl chr 3:38,453,890...38,493,142 		JBrowse link
G ARHGAP31 Rho GTPase activating protein 31 IAGP HPO ORPHA:974 NCBI chr 3:119,294,383...119,420,714
Ensembl chr 3:119,294,383...119,420,714 		JBrowse link
G ARHGAP5 Rho GTPase activating protein 5 IAGP ClinVar Annotator: match by term: Pulmonary artery atresia ClinVar NCBI chr14:32,077,304...32,159,728
Ensembl chr14:32,076,114...32,159,728 		JBrowse link
G BCLAF1 BCL2 associated transcription factor 1 IAGP ClinVar Annotator: match by term: Pulmonary artery atresia ClinVar NCBI chr 6:136,256,627...136,289,846
Ensembl chr 6:136,256,627...136,289,851 		JBrowse link
G BRD4 bromodomain containing 4 IAGP HPO MIM:620568 NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545 		JBrowse link
G CDC27 cell division cycle 27 IAGP ClinVar Annotator: match by term: Pulmonary artery atresia ClinVar NCBI chr17:47,117,703...47,189,295
Ensembl chr17:47,117,703...47,189,422 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP ClinVar Annotator: match by term: Pulmonary atresia ClinVar
HPO		 PMID:25741868 MIM:214800 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G CIROP ciliated left-right organizer metallopeptidase IAGP HPO MIM:619702 NCBI chr14:23,099,062...23,104,989
Ensembl chr14:23,099,062...23,104,989 		JBrowse link
G CNN2 calponin 2 IAGP ClinVar Annotator: match by term: Pulmonary artery atresia ClinVar NCBI chr19:1,026,608...1,039,065
Ensembl chr19:1,026,586...1,039,068 		JBrowse link
G CRELD1 cysteine rich with EGF like domains 1 IAGP HPO MIM:606217 NCBI chr 3:9,933,834...9,945,406
Ensembl chr 3:9,933,793...9,945,413 		JBrowse link
G CTBP2 C-terminal binding protein 2 IAGP ClinVar Annotator: match by term: Pulmonary artery atresia ClinVar PMID:25741868 NCBI chr10:124,984,317...125,162,463
Ensembl chr10:124,984,317...125,161,170 		JBrowse link
G DGCR2 DiGeorge syndrome critical region gene 2 IAGP HPO MIM:192430 NCBI chr22:19,036,286...19,122,412
Ensembl chr22:19,036,282...19,122,454 		JBrowse link
G DGCR6 DiGeorge syndrome critical region gene 6 IAGP HPO MIM:192430 NCBI chr22:18,906,223...18,912,088
Ensembl chr22:18,906,028...18,914,238 		JBrowse link
G DGCR8 DGCR8 microprocessor complex subunit IAGP HPO MIM:192430 NCBI chr22:20,080,241...20,111,872
Ensembl chr22:20,080,221...20,111,877 		JBrowse link
G DLL4 delta like canonical Notch ligand 4 IAGP HPO ORPHA:974 NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073 		JBrowse link
G DOCK6 dedicator of cytokinesis 6 IAGP HPO ORPHA:974 NCBI chr19:11,199,295...11,262,524
Ensembl chr19:11,199,295...11,262,524 		JBrowse link
G DVL3 dishevelled segment polarity protein 3 IAGP HPO MIM:616894 NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,377...184,173,614 		JBrowse link
G EOGT EGF domain specific O-linked N-acetylglucosamine transferase IAGP HPO ORPHA:974 NCBI chr 3:68,975,225...69,013,684
Ensembl chr 3:68,975,217...69,013,684 		JBrowse link
G ESAM endothelial cell adhesion molecule IAGP HPO MIM:620371 NCBI chr11:124,753,126...124,762,290
Ensembl chr11:124,752,583...124,762,290 		JBrowse link
G ESS2 ess-2 splicing factor homolog IAGP HPO MIM:192430 NCBI chr22:19,130,279...19,144,651
Ensembl chr22:19,130,279...19,144,684 		JBrowse link
G FADD Fas associated via death domain IAGP HPO MIM:613759 ORPHA:306550 NCBI chr11:70,203,296...70,207,390
Ensembl chr11:70,203,296...70,207,390 		JBrowse link
G FLT4 fms related receptor tyrosine kinase 4 IAGP HPO MIM:618780 NCBI chr 5:180,601,506...180,650,298
Ensembl chr 5:180,601,506...180,649,624 		JBrowse link
G FRA10AC1 FRA10A associated CGG repeat 1 IAGP HPO MIM:620113 NCBI chr10:93,667,883...93,702,959
Ensembl chr10:93,667,883...93,702,592 		JBrowse link
G FRG1 FSHD region gene 1 IAGP ClinVar Annotator: match by term: Pulmonary artery atresia ClinVar NCBI chr 4:189,940,872...189,963,192
Ensembl chr 4:189,940,855...189,963,202 		JBrowse link
G GDF1 growth differentiation factor 1 IAGP HPO MIM:208530 MIM:613854 NCBI chr19:18,868,545...18,896,158
Ensembl chr19:18,868,545...18,896,158 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP ClinVar Annotator: match by term: Pulmonary artery atresia ClinVar NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G MMP21 matrix metallopeptidase 21 IAGP HPO MIM:616749 NCBI chr10:125,766,453...125,775,821
Ensembl chr10:125,753,580...125,775,821 		JBrowse link
G NKX2-5 NK2 homeobox 5 IAGP HPO MIM:108900 NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311 		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 NODAL nodal growth differentiation factor IAGP HPO MIM:270100 NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951 		JBrowse link
G NOTCH1 notch receptor 1 IAGP HPO ORPHA:974 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048 		JBrowse link
G NUP153 nucleoporin 153 IAGP ClinVar Annotator: match by term: Pulmonary artery atresia ClinVar NCBI chr 6:17,615,037...17,706,925
Ensembl chr 6:17,615,035...17,706,925 		JBrowse link
G OTUD5 OTU deubiquitinase 5 IAGP HPO MIM:301056 NCBI chr  X:48,922,024...48,958,381
Ensembl chr  X:48,922,024...48,958,386 		JBrowse link
G PABPC1 poly(A) binding protein cytoplasmic 1 IAGP ClinVar Annotator: match by term: Pulmonary artery atresia ClinVar NCBI chr 8:100,702,916...100,722,088
Ensembl chr 8:100,685,816...100,722,809 		JBrowse link
G PKD1L1 polycystin 1 like 1, transient receptor potential channel interacting IAGP HPO MIM:617205 NCBI chr 7:47,774,614...47,960,906
Ensembl chr 7:47,740,202...47,948,466 		JBrowse link
G PLD1 phospholipase D1 IAGP HPO MIM: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 MIM:620294 ORPHA:3384 NCBI chr 3:129,555,214...129,606,676
Ensembl chr 3:129,555,214...129,606,676 		JBrowse link
G RBPJ recombination signal binding protein for immunoglobulin kappa J region IAGP HPO ORPHA:974 NCBI chr 4:26,105,449...26,435,131
Ensembl chr 4:26,163,455...26,435,131 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP ClinVar Annotator: match by term: Pulmonary artery atresia ClinVar PMID:25741868 NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082 		JBrowse link
G SMARCA4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 IAGP HPO MIM:614609 NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426 		JBrowse link
G STRA6 signaling receptor and transporter of retinol STRA6 IAGP HPO MIM:601186 NCBI chr15:74,179,466...74,212,259
Ensembl chr15:74,179,466...74,212,267 		JBrowse link
G TBX1 T-box transcription factor 1 IAGP HPO MIM:192430 ORPHA:3384 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593 		JBrowse link
G TMEM94 transmembrane protein 94 IAGP HPO MIM:618316 NCBI chr17:75,456,635...75,500,452
Ensembl chr17:75,441,159...75,500,452 		JBrowse link
G TRAF7 TNF receptor associated factor 7 IAGP HPO MIM:618164 NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129 		JBrowse link
Pulmonary artery dilatation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA2 actin alpha 2, smooth muscle IAGP HPO MIM:613834 NCBI chr10:88,935,074...88,991,337
Ensembl chr10:88,934,822...88,991,339 		JBrowse link
G ADAMTS19 ADAM metallopeptidase with thrombospondin type 1 motif 19 IAGP HPO MIM:620067 NCBI chr 5:129,460,298...129,738,683
Ensembl chr 5:129,460,281...129,738,683 		JBrowse link
G BMPR2 bone morphogenetic protein receptor type 2 IAGP ClinVar Annotator: match by term: Pulmonary artery dilatation ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:202,376,327...202,567,749
Ensembl chr 2:202,376,327...202,567,751 		JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 IAGP HPO MIM:614437 NCBI chr11:65,866,441...65,872,800
Ensembl chr11:65,866,441...65,873,592 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO MIM:154700 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FOXF1 forkhead box F1 IAGP HPO MIM:265380 NCBI chr16:86,510,527...86,515,422
Ensembl chr16:86,510,527...86,515,422 		JBrowse link
G IFT56 intraflagellar transport 56 IAGP HPO MIM:619534 NCBI chr 7:139,133,778...139,191,986
Ensembl chr 7:139,133,744...139,191,986 		JBrowse link
G TLL1 tolloid like 1 IAGP HPO ORPHA:99106 NCBI chr 4:165,873,237...166,104,457
Ensembl chr 4:165,873,237...166,104,457 		JBrowse link
Pulmonary artery hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AASS aminoadipate-semialdehyde synthase IAGP HPO ORPHA:2203 NCBI chr 7:122,073,549...122,144,249
Ensembl chr 7:122,064,583...122,144,308 		JBrowse link
G ALDH1A2 aldehyde dehydrogenase 1 family member A2 IAGP HPO MIM:620025 NCBI chr15:57,953,429...58,065,711
Ensembl chr15:57,953,424...58,497,866 		JBrowse link
G CCDC22 coiled-coil domain containing 22 IAGP HPO MIM:300963 NCBI chr  X:49,235,470...49,250,520
Ensembl chr  X:49,235,470...49,250,520 		JBrowse link
G MGP matrix Gla protein IAGP HPO MIM:245150 NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857 		JBrowse link
G MMP21 matrix metallopeptidase 21 IAGP HPO MIM:616749 NCBI chr10:125,766,453...125,775,821
Ensembl chr10:125,753,580...125,775,821 		JBrowse link
G MYH7 myosin heavy chain 7 IAGP HPO MIM:613426 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		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 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 TBX1 T-box transcription factor 1 IAGP HPO ORPHA:3384 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593 		JBrowse link
G TRAIP TRAF interacting protein IAGP HPO MIM:616777 NCBI chr 3:49,828,601...49,856,564
Ensembl chr 3:49,828,601...49,856,574 		JBrowse link
Pulmonary artery sling term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMG8 SMG8 nonsense mediated mRNA decay factor IAGP HPO MIM:619268 NCBI chr17:59,210,035...59,215,230
Ensembl chr17:59,209,400...59,215,239 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP HPO MIM: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
Pulmonary artery stenosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARHGAP31 Rho GTPase activating protein 31 IAGP HPO MIM:100300 NCBI chr 3:119,294,383...119,420,714
Ensembl chr 3:119,294,383...119,420,714 		JBrowse link
G ARSL arylsulfatase L IAGP HPO ORPHA:79345 NCBI chr  X:2,934,521...2,968,245
Ensembl chr  X:2,934,045...2,968,475 		JBrowse link
G BCL11B BCL11 transcription factor B IAGP HPO MIM:617237 NCBI chr14:99,169,287...99,272,197
Ensembl chr14:99,169,287...99,272,197 		JBrowse link
G CBL Cbl proto-oncogene IAGP HPO ORPHA:648 NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926 		JBrowse link
G CCNQ cyclin Q IAGP HPO ORPHA:140952 NCBI chr  X:153,587,925...153,599,139
Ensembl chr  X:153,587,925...153,600,045 		JBrowse link
G CEP295 centrosomal protein 295 IAGP HPO MIM:620767 NCBI chr11:93,661,682...93,730,358
Ensembl chr11:93,661,682...93,730,358 		JBrowse link
G CLCN7 chloride voltage-gated channel 7 IAGP HPO ORPHA:667 NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077 		JBrowse link
G CNTN1 contactin 1 IAGP HPO MIM:612540 NCBI chr12:40,692,439...41,072,415
Ensembl chr12:40,692,439...41,072,415 		JBrowse link
G DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit IAGP HPO MIM:620504 NCBI chr22:31,753,968...31,908,033
Ensembl chr22:31,753,867...31,908,033 		JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IAGP HPO ORPHA:96334 NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224 		JBrowse link
G ELN elastin IAGP HPO MIM:185500 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G FOXF1 forkhead box F1 IAGP HPO MIM:265380 NCBI chr16:86,510,527...86,515,422
Ensembl chr16:86,510,527...86,515,422 		JBrowse link
G GATA4 GATA binding protein 4 IAGP HPO ORPHA:251071 NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002 		JBrowse link
G GATA6 GATA binding protein 6 IAGP HPO MIM:600001 ORPHA:2255 NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528 		JBrowse link
G GPC6 glypican 6 IAGP HPO MIM:258315 NCBI chr13:93,216,529...94,408,020
Ensembl chr13:93,226,807...94,408,020 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO ORPHA:648 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 IAGP HPO MIM:605275 ORPHA:648 NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032 		JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO MIM:301068 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G MEG3 maternally expressed 3 IAGP HPO ORPHA:96334 NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,206...100,861,031 		JBrowse link
G MGP matrix Gla protein IAGP HPO ORPHA:85202 NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857 		JBrowse link
G MRAS muscle RAS oncogene homolog IAGP HPO ORPHA:648 NCBI chr 3:138,347,648...138,405,535
Ensembl chr 3:138,347,648...138,405,534 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP HPO MIM:300855 ORPHA:276432 NCBI chr  X:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080 		JBrowse link
G NKX2-5 NK2 homeobox 5 IAGP HPO MIM:614432 NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311 		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 NRAS NRAS proto-oncogene, GTPase IAGP HPO ORPHA:648 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G ODAD1 outer dynein arm docking complex subunit 1 IAGP HPO MIM:615067 NCBI chr19:48,296,452...48,321,971
Ensembl chr19:48,296,457...48,321,971 		JBrowse link
G PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP HPO MIM:280000 NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797 		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 POLA1 DNA polymerase alpha 1, catalytic subunit IAGP HPO MIM:301030 NCBI chr  X:24,693,918...24,996,986
Ensembl chr  X:24,693,873...24,996,986 		JBrowse link
G POLR1A RNA polymerase I subunit A IAGP HPO MIM:616462 NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP HPO ORPHA:648 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:648 NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201 		JBrowse link
G RASA2 RAS p21 protein activator 2 IAGP HPO ORPHA:648 NCBI chr 3:141,487,027...141,615,344
Ensembl chr 3:141,487,027...141,615,344 		JBrowse link
G RIT1 Ras like without CAAX 1 IAGP HPO ORPHA:648 NCBI chr 1:155,897,808...155,911,349
Ensembl chr 1:155,897,808...155,911,404 		JBrowse link
G RPL10 ribosomal protein L10 IAGP HPO MIM:300998 ORPHA:435938 ORPHA:459070 NCBI chr  X:154,398,065...154,402,339
Ensembl chr  X:154,389,955...154,409,168 		JBrowse link
G RRAS RAS related IAGP HPO ORPHA:648 NCBI chr19:49,635,292...49,640,143
Ensembl chr19:49,635,292...49,640,143 		JBrowse link
G RRAS2 RAS related 2 IAGP HPO ORPHA:648 NCBI chr11:14,277,920...14,364,506
Ensembl chr11:14,277,922...14,364,506 		JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP HPO ORPHA:96334 NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722 		JBrowse link
G SLC2A10 solute carrier family 2 member 10 IAGP HPO MIM:208050 ORPHA:3342 NCBI chr20:46,708,320...46,736,347
Ensembl chr20:46,709,649...46,736,347 		JBrowse link
G SNX10 sorting nexin 10 IAGP HPO ORPHA:667 NCBI chr 7:26,291,862...26,374,383
Ensembl chr 7:26,291,862...26,374,383 		JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP HPO ORPHA:648 NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345 		JBrowse link
G SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 IAGP HPO ORPHA:648 NCBI chr14:50,117,130...50,231,882
Ensembl chr14:50,117,130...50,231,578 		JBrowse link
G SPRED2 sprouty related EVH1 domain containing 2 IAGP HPO ORPHA:648 NCBI chr 2:65,307,175...65,432,599
Ensembl chr 2:65,310,851...65,432,637 		JBrowse link
G TBX1 T-box transcription factor 1 IAGP HPO ORPHA:3384 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593 		JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP HPO ORPHA:667 NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895 		JBrowse link
G TNFSF11 TNF superfamily member 11 IAGP HPO ORPHA:667 NCBI chr13:42,562,736...42,608,013
Ensembl chr13:42,562,736...42,608,013 		JBrowse link
G WNT4 Wnt family member 4 IAGP HPO MIM:611812 NCBI chr 1:22,117,313...22,143,097
Ensembl chr 1:22,117,313...22,143,969 		JBrowse link
G WRN WRN RecQ like helicase IAGP HPO ORPHA:902 NCBI chr 8:31,033,810...31,176,138
Ensembl chr 8:31,033,788...31,176,138 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP HPO MIM:235730 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057 		JBrowse link
Pulmonary artery vasoconstriction term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPR2 bone morphogenetic protein receptor type 2 IAGP HPO MIM:178600 NCBI chr 2:202,376,327...202,567,749
Ensembl chr 2:202,376,327...202,567,751 		JBrowse link
Pulmonary aterial intimal fibrosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPR2 bone morphogenetic protein receptor type 2 IAGP HPO MIM:178600 NCBI chr 2:202,376,327...202,567,749
Ensembl chr 2:202,376,327...202,567,751 		JBrowse link
Pulmonary capillary hemangiomatosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAPNS1 calpain small subunit 1 IAGP HPO MIM:620777 NCBI chr19:36,140,066...36,150,353
Ensembl chr19:36,139,953...36,150,353 		JBrowse link
G CCND1 cyclin D1 IAGP HPO MIM:193300 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474 		JBrowse link
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 IAGP HPO MIM:234810 ORPHA:199241 NCBI chr15:39,934,115...40,035,591
Ensembl chr15:39,934,115...40,035,591 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP HPO MIM:193300 NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,676 		JBrowse link
Pulmonary venous occlusion term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPR2 bone morphogenetic protein receptor type 2 IAGP HPO MIM:265450 NCBI chr 2:202,376,327...202,567,749
Ensembl chr 2:202,376,327...202,567,751 		JBrowse link
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 IAGP HPO MIM:234810 NCBI chr15:39,934,115...40,035,591
Ensembl chr15:39,934,115...40,035,591 		JBrowse link
Scimitar anomaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KDM6A lysine demethylase 6A IAGP HPO MIM:147920 NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779 		JBrowse link
G KMT2D lysine methyltransferase 2D IAGP HPO MIM:147920 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794 		JBrowse link
G MYRF myelin regulatory factor IAGP ClinVar Annotator: match by term: Scimitar anomaly ClinVar
HPO		 PMID:25741868 MIM:618280 NCBI chr11:61,752,636...61,788,518
Ensembl chr11:61,752,636...61,788,518 		JBrowse link
G WT1 WT1 transcription factor IAGP HPO MIM:608978 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
Total anomalous pulmonary venous return term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVR2B activin A receptor type 2B IAGP HPO MIM:613751 NCBI chr 3:38,453,890...38,493,142
Ensembl chr 3:38,453,890...38,493,142 		JBrowse link
G ANKRD1 ankyrin repeat domain 1 IAGP ClinVar Annotator: match by term: Total anomalous pulmonary venous return
ClinVar Annotator: match by term: Total anomalous pulmonary venous drainage		 ClinVar PMID:19525294 PMID:19608031 PMID:23299917 PMID:23861362 PMID:24033266 More... NCBI chr10:90,912,096...90,921,087
Ensembl chr10:90,912,096...90,921,087 		JBrowse link
G BMP7 bone morphogenetic protein 7 IAGP ClinVar Annotator: match by term: Total anomalous pulmonary venous return ClinVar PMID:25741868 PMID:28492532 NCBI chr20:57,168,753...57,266,641
Ensembl chr20:57,168,753...57,266,641 		JBrowse link
G CDC42 cell division cycle 42 IAGP HPO ORPHA:487796 NCBI chr 1:22,052,709...22,101,360
Ensembl chr 1:22,052,627...22,101,360 		JBrowse link
G CFAP53 cilia and flagella associated protein 53 IAGP HPO MIM:614779 NCBI chr18:50,227,193...50,266,495
Ensembl chr18:50,227,193...50,266,495 		JBrowse link
G DAW1 dynein assembly factor with WD repeats 1 IAGP HPO MIM:620570 NCBI chr 2:227,871,631...227,924,344
Ensembl chr 2:227,871,054...227,924,344 		JBrowse link
G DHCR24 24-dehydrocholesterol reductase IAGP HPO MIM:602398 NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195 		JBrowse link
G GDF1 growth differentiation factor 1 IAGP HPO MIM:208530 MIM: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 MIM: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 MIM:312870 NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489 		JBrowse link
G MMP21 matrix metallopeptidase 21 IAGP HPO MIM:616749 NCBI chr10:125,766,453...125,775,821
Ensembl chr10:125,753,580...125,775,821 		JBrowse link
G NIPA1 NIPA magnesium transporter 1 IAGP HPO ORPHA:261183 NCBI chr15:22,786,225...22,829,789
Ensembl chr15:22,773,063...22,829,789 		JBrowse link
G NIPA2 NIPA magnesium transporter 2 IAGP HPO ORPHA:261183 NCBI chr15:22,838,666...22,868,384
Ensembl chr15:22,838,644...22,869,362 		JBrowse link
G NODAL nodal growth differentiation factor IAGP HPO MIM:270100 NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951 		JBrowse link
G RPS15A ribosomal protein S15a IAGP HPO MIM:618313 NCBI chr16:18,781,295...18,790,334
Ensembl chr16:18,781,295...18,790,383 		JBrowse link
G TUBG1 tubulin gamma 1 IAGP HPO ORPHA:261183 NCBI chr17:42,609,683...42,615,238
Ensembl chr17:42,609,641...42,615,238 		JBrowse link
G ZIC3 Zic family member 3 IAGP HPO MIM: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 73834
    Phenotypic abnormality 73529
      Abnormality of the cardiovascular system 12034
        Abnormality of the vasculature 6948
          Abnormality of the pulmonary vasculature 251
            Abnormality of the pulmonary artery + 160
            Abnormality of the pulmonary veins + 90
            Agenesis of pulmonary vessels 1
            Bronchial telangiectasia 0
            Peripheral lung neovascularity 0
            Peripheral pulmonary vessel aplasia 1
            Pulmonary arteriovenous malformation 6
            Pulmonary capillary angioectasia 0
            Pulmonary capillary hemangiomatosis 4
Path 2
Term Annotations click to browse term
  Human phenotype 73834
    Phenotypic abnormality 73529
      Abnormality of the respiratory system 4927
        Abnormal respiratory system physiology 4812
          Abnormal respiratory system morphology 2597
            Abnormal lung morphology 2312
              Abnormality of the pulmonary vasculature 251
                Abnormality of the pulmonary artery + 160
                Abnormality of the pulmonary veins + 90
                Agenesis of pulmonary vessels 1
                Bronchial telangiectasia 0
                Peripheral lung neovascularity 0
                Peripheral pulmonary vessel aplasia 1
                Pulmonary arteriovenous malformation 6
                Pulmonary capillary angioectasia 0
                Pulmonary capillary hemangiomatosis 4
paths to the root