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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Abnormal vascular physiology
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Accession:HP:0030163 term browser browse the term
Definition:Abnormality of vascular function.
Synonyms:xref: UMLS:C4022603


show annotations for term's descendants           Sort by:
Abnormal aortic physiology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PHACTR1 phosphatase and actin regulator 1 IAGP absent dicrotic notch;DNA:SNP:intron:g.12903957 (rs9349379) RGD PMID:36580284 RGD:401901177 NCBI chr 6:12,716,767...13,287,837
Ensembl chr 6:12,716,312...13,290,446 		JBrowse link
Abnormal arterial physiology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTHFR methylenetetrahydrofolate reductase severity IAGP DNA:transition:cds:g.677C>T RGD PMID:21394321 RGD:6893475 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
Abnormal capillary physiology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G XPNPEP2 X-prolyl aminopeptidase 2 IAGP HPO ORPHA:100057 NCBI chr  X:129,738,979...129,769,536
Ensembl chr  X:129,738,949...129,769,536 		JBrowse link
Abnormal coronary artery physiology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALMS1 ALMS1 centrosome and basal body associated protein IAGP HPO ORPHA:64 NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166 		JBrowse link
Abnormal pulse pressure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RYR1 ryanodine receptor 1 IAGP HPO ORPHA:466650 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
Absent pulse term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HLA-B major histocompatibility complex, class I, B IAGP HPO ORPHA:3287 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G IL12B interleukin 12B IAGP HPO ORPHA:3287 NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,863 		JBrowse link
G MLX MAX dimerization protein MLX IAGP HPO ORPHA:3287 NCBI chr17:42,567,100...42,573,203
Ensembl chr17:42,567,072...42,573,239 		JBrowse link
Aortic stiffness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMPD1 adenosine monophosphate deaminase 1 susceptibility IAGP DNA:SNP:exon:34C>T (human) RGD PMID:24508110 PMID:24508110 RGD:329412480, RGD:329412480 NCBI chr 1:114,673,098...114,695,546
Ensembl chr 1:114,673,090...114,695,618 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 IAGP RGD PMID:29452132 RGD:14700976 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039 		JBrowse link
G IGF1 insulin like growth factor 1 IAGP RGD PMID:12791939 RGD:1580477 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744 		JBrowse link
Arterial occlusion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGXT alanine--glyoxylate aminotransferase IAGP HPO MIM:259900 NCBI chr 2:240,868,824...240,880,500
Ensembl chr 2:240,868,824...240,880,502 		JBrowse link
G NT5E 5'-nucleotidase ecto IAGP HPO ORPHA:289601 NCBI chr 6:85,450,083...85,495,784
Ensembl chr 6:85,449,584...85,495,791 		JBrowse link
G SERPINC1 serpin family C member 1 IAGP HPO MIM:613118 NCBI chr 1:173,903,800...173,917,327
Ensembl chr 1:173,903,800...173,917,327 		JBrowse link
Arterial rupture term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL1A1 collagen type I alpha 1 chain IAGP HPO MIM:619115 ORPHA:287 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP HPO MIM:619120 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227 		JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP HPO MIM:130050 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 ORPHA:287 NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843 		JBrowse link
G COL5A2 collagen type V alpha 2 chain IAGP HPO ORPHA:287 NCBI chr 2:189,031,898...189,441,111
Ensembl chr 2:189,031,898...189,225,312 		JBrowse link
G FKBP14 FKBP prolyl isomerase 14 IAGP HPO ORPHA:300179 NCBI chr 7:30,005,923...30,026,702
Ensembl chr 7:30,010,587...30,026,702 		JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 IAGP HPO MIM:225400 ORPHA:1900 NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538 		JBrowse link
G PLOD3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 IAGP HPO MIM:612394 NCBI chr 7:101,205,984...101,217,581
Ensembl chr 7:101,205,977...101,218,420 		JBrowse link
Bounding pulse term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RASA1 RAS p21 protein activator 1 IAGP HPO ORPHA:90307 NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931 		JBrowse link
Budd-Chiari syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD55 CD55 molecule (Cromer blood group) IAGP HPO MIM:226300 NCBI chr 1:207,321,678...207,360,966
Ensembl chr 1:207,321,519...207,386,804 		JBrowse link
G F5 coagulation factor V IAGP ClinVar Annotator: match by term: Budd-Chiari syndrome ClinVar
HPO		 PMID:11950065 PMID:16246256 PMID:19486170 PMID:24033266 PMID:25741868 More... MIM:600880 NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588 		JBrowse link
G INSL6 insulin like 6 IAGP ClinVar Annotator: match by term: Budd-Chiari syndrome ClinVar PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... NCBI chr 9:4,991,976...5,185,639
Ensembl chr 9:5,123,880...5,185,647 		JBrowse link
G JAK2 Janus kinase 2 IAGP ClinVar Annotator: match by term: Budd-Chiari syndrome ClinVar
HPO		 PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... MIM:263300 MIM:600880 ORPHA:729 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948 		JBrowse link
G LOC130001497 ATAC-STARR-seq lymphoblastoid silent region 19752 IAGP ClinVar Annotator: match by term: Budd-Chiari syndrome ClinVar NCBI chr 9:4,985,365...4,985,694 JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO ORPHA:447 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
G TERC telomerase RNA component IAGP HPO MIM:127550 NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047
Ensembl chr 3:169,764,610...169,765,047 		JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO MIM:127550 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 IAGP HPO MIM:127550 NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663 		JBrowse link
Capillary fragility term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATRX ATRX chromatin remodeler IAGP HPO ORPHA:96253 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:96253 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G CDH23 cadherin related 23 IAGP HPO ORPHA:96253 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 IAGP HPO ORPHA:96253 NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512 		JBrowse link
G TP53 tumor protein p53 IAGP HPO ORPHA:96253 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G USP48 ubiquitin specific peptidase 48 IAGP HPO ORPHA:96253 NCBI chr 1:21,678,298...21,783,149
Ensembl chr 1:21,678,298...21,783,606 		JBrowse link
G USP8 ubiquitin specific peptidase 8 IAGP HPO ORPHA:96253 NCBI chr15:50,424,405...50,514,421
Ensembl chr15:50,424,380...50,514,421 		JBrowse link
Capillary leak term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FSHR follicle stimulating hormone receptor IAGP HPO ORPHA:64739 NCBI chr 2:48,962,157...49,154,515
Ensembl chr 2:48,962,157...49,154,527 		JBrowse link
G LCK LCK proto-oncogene, Src family tyrosine kinase IAGP HPO MIM:615758 NCBI chr 1:32,251,265...32,286,165
Ensembl chr 1:32,251,244...32,286,165 		JBrowse link
G TLN1 talin 1 IAGP ClinVar Annotator: match by term: Systemic capillary leak syndrome ClinVar PMID:25741868 NCBI chr 9:35,696,948...35,732,195
Ensembl chr 9:35,696,948...35,732,195 		JBrowse link
Cerebral ischemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APP amyloid beta precursor protein IAGP HPO MIM:605714 NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,535...26,171,128 		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 BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:54595 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		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 C4A complement C4A (Chido/Rodgers blood group) IAGP HPO ORPHA:117 NCBI chr 6:31,982,057...32,002,681
Ensembl chr 6:31,982,057...32,002,681 		JBrowse link
G CBS cystathionine beta-synthase IAGP HPO ORPHA:394 NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,053,191...43,076,943 		JBrowse link
G CCR1 C-C motif chemokine receptor 1 IAGP HPO ORPHA:117 NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313 		JBrowse link
G 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 CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP HPO ORPHA:900 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G CTNNB1 catenin beta 1 IAGP HPO ORPHA:54595 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		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 EIF4H eukaryotic translation initiation factor 4H IAGP HPO ORPHA:904 NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122 		JBrowse link
G ELN elastin IAGP HPO ORPHA:904 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G EPHB4 EPH receptor B4 IAGP HPO ORPHA:137667 NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523 		JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 IAGP HPO ORPHA:117 NCBI chr 5:96,760,813...96,935,854
Ensembl chr 5:96,760,810...96,808,100 		JBrowse link
G FAS Fas cell surface death receptor IAGP HPO ORPHA:117 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G FBN2 fibrillin 2 IAGP ClinVar Annotator: match by term: Brain ischemia ClinVar PMID:25558065 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		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 HLA-B major histocompatibility complex, class I, B IAGP HPO ORPHA:117 ORPHA:3287 ORPHA:397 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G HLA-DPA1 major histocompatibility complex, class II, DP alpha 1 IAGP HPO ORPHA:900 NCBI chr 6:33,064,569...33,080,748
Ensembl chr 6:33,064,569...33,080,775 		JBrowse link
G HLA-DPB1 major histocompatibility complex, class II, DP beta 1 IAGP HPO ORPHA:900 NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,936...33,089,696 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP HPO ORPHA:397 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G IFNGR1 interferon gamma receptor 1 IAGP HPO ORPHA:117 NCBI chr 6:137,197,484...137,219,385
Ensembl chr 6:137,197,483...137,219,449 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP HPO ORPHA:464 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046 		JBrowse link
G IL10 interleukin 10 IAGP HPO ORPHA:117 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IL12A interleukin 12A IAGP HPO ORPHA:117 NCBI chr 3:159,988,835...159,996,019
Ensembl chr 3:159,988,835...159,996,019 		JBrowse link
G IL12A-AS1 IL12A antisense RNA 1 IAGP HPO ORPHA:117 NCBI chr 3:159,913,400...160,207,092
Ensembl chr 3:159,902,045...160,226,966 		JBrowse link
G IL12B interleukin 12B IAGP HPO ORPHA:3287 NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,863 		JBrowse link
G IL23R interleukin 23 receptor IAGP HPO ORPHA:117 NCBI chr 1:67,138,637...67,265,903
Ensembl chr 1:67,138,907...67,259,979 		JBrowse link
G JAK2 Janus kinase 2 IAGP HPO MIM:263300 ORPHA:71493 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948 		JBrowse link
G KLRC4 killer cell lectin like receptor C4 IAGP HPO ORPHA:117 NCBI chr12:10,407,384...10,409,757
Ensembl chr12:10,403,059...10,409,757 		JBrowse link
G 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 MEFV MEFV innate immunity regulator, pyrin IAGP HPO ORPHA:117 NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633 		JBrowse link
G 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 MLX MAX dimerization protein MLX IAGP HPO ORPHA:3287 NCBI chr17:42,567,100...42,573,203
Ensembl chr17:42,567,072...42,573,239 		JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor IAGP HPO ORPHA:71493 NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase IAGP DNA:transition:cds:g.677C>T RGD PMID:15652605 RGD:6893467 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G MYH7 myosin heavy chain 7 IAGP HPO ORPHA:1880 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
G NAGS N-acetylglutamate synthase IAGP HPO ORPHA:927 NCBI chr17:44,004,622...44,009,068
Ensembl chr17:44,004,622...44,009,068 		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 NOTCH3 notch receptor 3 IAGP HPO ORPHA:136 NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995 		JBrowse link
G P4HA2 prolyl 4-hydroxylase subunit alpha 2 IAGP HPO ORPHA:397 NCBI chr 5:132,190,147...132,227,853
Ensembl chr 5:132,190,147...132,295,315 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:60040 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PRTN3 proteinase 3 IAGP HPO ORPHA:900 NCBI chr19:840,999...848,175
Ensembl chr19:840,999...848,175 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP HPO ORPHA:397 ORPHA:900 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G RASA1 RAS p21 protein activator 1 IAGP HPO ORPHA:137667 NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931 		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 SCNN1A sodium channel epithelial 1 subunit alpha IAGP HPO ORPHA:526 NCBI chr12:6,346,847...6,377,359
Ensembl chr12:6,346,843...6,377,730 		JBrowse link
G SCNN1B sodium channel epithelial 1 subunit beta IAGP HPO ORPHA:526 NCBI chr16:23,278,231...23,381,294
Ensembl chr16:23,278,231...23,381,294 		JBrowse link
G SCNN1G sodium channel epithelial 1 subunit gamma IAGP HPO ORPHA:526 NCBI chr16:23,182,745...23,216,883
Ensembl chr16:23,182,745...23,216,883 		JBrowse link
G SMARCAL1 SNF2 related chromatin remodeling annealing helicase 1 IAGP HPO MIM:242900 ORPHA:1830 NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP HPO ORPHA:117 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435 		JBrowse link
G 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 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 THPO thrombopoietin IAGP HPO ORPHA:71493 NCBI chr 3:184,371,935...184,379,688
Ensembl chr 3:184,371,935...184,381,968 		JBrowse link
G TLR4 toll like receptor 4 IAGP HPO ORPHA:117 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735 		JBrowse link
G 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 UBAC2 UBA domain containing 2 IAGP HPO ORPHA:117 NCBI chr13:99,200,854...99,386,504
Ensembl chr13:99,200,774...99,386,504 		JBrowse link
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
Elevated jugular venous pressure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP6 bone morphogenetic protein 6 IAGP HPO ORPHA:465508 NCBI chr 6:7,726,099...7,881,728
Ensembl chr 6:7,726,099...7,881,728 		JBrowse link
G 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 HFE homeostatic iron regulator IAGP HPO ORPHA:465508 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343 		JBrowse link
G MYH7 myosin heavy chain 7 IAGP HPO MIM:255160 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
Elevated pulmonary artery pressure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAV1 caveolin 1 IAGP HPO MIM:615343 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179 		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
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP HPO ORPHA:85414 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G IL6 interleukin 6 IAGP HPO ORPHA:85414 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G KCNK3 potassium two pore domain channel subfamily K member 3 IAGP HPO MIM:615344 NCBI chr 2:26,692,722...26,733,420
Ensembl chr 2:26,692,722...26,733,420 		JBrowse link
G LACC1 laccase domain containing 1 IAGP HPO ORPHA:85414 NCBI chr13:43,879,178...43,893,932
Ensembl chr13:43,879,284...43,893,932 		JBrowse link
G MIF macrophage migration inhibitory factor IAGP HPO ORPHA:85414 NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227 		JBrowse link
G MYH11 myosin heavy chain 11 IAGP HPO MIM:619351 NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,858,438 		JBrowse link
G SOX17 SRY-box transcription factor 17 IAGP associated with congenital heart disease, DNA:mutations:multiple RGD PMID:30029678 RGD:329853313 NCBI chr 8:54,457,935...54,460,892
Ensembl chr 8:54,457,935...54,460,892 		JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP HPO ORPHA:718 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416 		JBrowse link
High pulse pressure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DAB2IP DAB2 interacting protein sexual_dimorphism IAGP DNA:SNP:CDS:rs7025486 (human) RGD PMID:28698188 RGD:401938619 NCBI chr 9:121,567,074...121,785,530
Ensembl chr 9:121,567,057...121,785,530 		JBrowse link
G PTGIS prostaglandin I2 synthase IAGP DNA:repeat:promoter:g.-6(CCGCCAGCC)3-4 RGD PMID:10577996 RGD:401959586 NCBI chr20:49,503,874...49,568,137
Ensembl chr20:49,503,874...49,568,137 		JBrowse link
Increased pulmonary capillary wedge pressure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOX17 SRY-box transcription factor 17 IAGP DNA:nonsense mutation:CDS:p.Q127* RGD PMID:33952808 RGD:329853326 NCBI chr 8:54,457,935...54,460,892
Ensembl chr 8:54,457,935...54,460,892 		JBrowse link
Increased pulmonary vascular resistance term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTC1 actin alpha cardiac muscle 1 IAGP HPO ORPHA:99103 NCBI chr15:34,790,230...34,795,549
Ensembl chr15:34,790,107...34,795,589 		JBrowse link
G BMPR2 bone morphogenetic protein receptor type 2 IAGP ClinVar Annotator: match by term: Increased pulmonary vascular resistance ClinVar
HPO		 PMID:25741868 PMID:28492532 MIM:178600 NCBI chr 2:202,376,327...202,567,749
Ensembl chr 2:202,376,327...202,567,751 		JBrowse link
G CAV1 caveolin 1 IAGP HPO MIM:615343 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179 		JBrowse link
G CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 IAGP HPO ORPHA:99103 NCBI chr 6:139,371,807...139,374,648
Ensembl chr 6:139,371,807...139,374,648 		JBrowse link
G GATA4 GATA binding protein 4 IAGP HPO ORPHA:99103 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 ORPHA:99103 NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528 		JBrowse link
G KCNK3 potassium two pore domain channel subfamily K member 3 IAGP HPO MIM:615344 NCBI chr 2:26,692,722...26,733,420
Ensembl chr 2:26,692,722...26,733,420 		JBrowse link
G MYH6 myosin heavy chain 6 IAGP HPO ORPHA:99103 NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273 		JBrowse link
G NKX2-5 NK2 homeobox 5 IAGP HPO ORPHA:99103 NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311 		JBrowse link
G SLC34A2 solute carrier family 34 member 2 IAGP HPO ORPHA:60025 NCBI chr 4:25,655,851...25,678,748
Ensembl chr 4:25,648,011...25,678,748 		JBrowse link
G SMAD9 SMAD family member 9 IAGP HPO MIM:615342 NCBI chr13:36,844,831...36,920,854
Ensembl chr13:36,844,831...36,920,887 		JBrowse link
G SOX17 SRY-box transcription factor 17 IAGP DNA:nonsense mutation:CDS:p.Q127* RGD PMID:33952808 RGD:329853326 NCBI chr 8:54,457,935...54,460,892
Ensembl chr 8:54,457,935...54,460,892 		JBrowse link
G TBX20 T-box transcription factor 20 IAGP HPO ORPHA:99103 NCBI chr 7:35,202,430...35,254,100
Ensembl chr 7:35,202,430...35,254,100 		JBrowse link
G TLL1 tolloid like 1 IAGP HPO ORPHA:99103 NCBI chr 4:165,873,237...166,104,457
Ensembl chr 4:165,873,237...166,104,457 		JBrowse link
Intermittent claudication term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 IAGP HPO MIM:264800 ORPHA:758 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522 		JBrowse link
G AEBP1 AE binding protein 1 IAGP HPO MIM:618000 NCBI chr 7:44,104,345...44,114,560
Ensembl chr 7:44,104,345...44,114,562 		JBrowse link
G AGXT alanine--glyoxylate aminotransferase IAGP HPO MIM:259900 NCBI chr 2:240,868,824...240,880,500
Ensembl chr 2:240,868,824...240,880,502 		JBrowse link
G AGXT2 alanine--glyoxylate aminotransferase 2 IAGP associated with type 2 diabetes mellitus;DNA:SNP:cds:rs2830 (human) RGD PMID:24186881 RGD:329969899 NCBI chr 5:34,998,102...35,047,949
Ensembl chr 5:34,998,101...35,048,135 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO ORPHA:758 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP HPO ORPHA:3287 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G IL12B interleukin 12B IAGP HPO ORPHA:3287 NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,863 		JBrowse link
G JAK2 Janus kinase 2 IAGP HPO ORPHA:729 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948 		JBrowse link
G MLX MAX dimerization protein MLX IAGP HPO ORPHA:3287 NCBI chr17:42,567,100...42,573,203
Ensembl chr17:42,567,072...42,573,239 		JBrowse link
G NT5E 5'-nucleotidase ecto IAGP HPO MIM:211800 NCBI chr 6:85,450,083...85,495,784
Ensembl chr 6:85,449,584...85,495,791 		JBrowse link
G XYLT1 xylosyltransferase 1 IAGP HPO MIM:264800 NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960 		JBrowse link
G XYLT2 xylosyltransferase 2 IAGP HPO MIM:264800 NCBI chr17:50,346,126...50,361,185
Ensembl chr17:50,346,126...50,363,138 		JBrowse link
Ischemic stroke term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme IAGP ClinVar Annotator: match by term: Ischemic stroke ClinVar PMID:1313972 PMID:1319114 PMID:1328889 PMID:1386652 PMID:1976655 More... NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380 		JBrowse link
G ACTA2 actin alpha 2, smooth muscle IAGP HPO ORPHA:91387 NCBI chr10:88,935,074...88,991,337
Ensembl chr10:88,934,822...88,991,339 		JBrowse link
G ACVRL1 activin A receptor like type 1 IAGP HPO MIM:600376 NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361 		JBrowse link
G ADA2 adenosine deaminase 2 IAGP HPO MIM:182410 NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235 		JBrowse link
G BHMT betaine--homocysteine S-methyltransferase susceptibility IAGP DNA:SNPs,haplotypes:multiple RGD PMID:20458436 RGD:401794454 NCBI chr 5:79,111,809...79,132,288
Ensembl chr 5:79,111,809...79,132,288 		JBrowse link
G BRCC3 BRCA1/BRCA2-containing complex subunit 3 IAGP HPO ORPHA:280679 NCBI chr  X:155,071,508...155,123,077
Ensembl chr  X:155,071,420...155,123,077 		JBrowse link
G CBS cystathionine beta-synthase susceptibility IAGP DNA:SNPs,haplotypes:multiple RGD PMID:20458436 RGD:401794454 NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,053,191...43,076,943 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain IAGP HPO MIM:175780 NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202 		JBrowse link
G ELN elastin IAGP HPO ORPHA:91387 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G ENG endoglin IAGP HPO MIM:187300 NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773 		JBrowse link
G EPHX2 epoxide hydrolase 2 susceptibility IAGP DNA:SNP:intron:IVS16 (rs2291635)
DNA:missense mutation:cds:p.K55R		 RGD PMID:18323494 PMID:20065888 RGD:5688362, RGD:5688727 NCBI chr 8:27,491,143...27,548,626
Ensembl chr 8:27,490,781...27,545,564 		JBrowse link
G F2 coagulation factor II, thrombin IAGP ClinVar Annotator: match by term: Ischemic stroke ClinVar PMID:2222810 PMID:2429850 PMID:2825773 PMID:6305407 PMID:8696333 More... NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506 		JBrowse link
G F5 coagulation factor V IAGP ClinVar Annotator: match by term: Ischemic stroke ClinVar PMID:7586244 PMID:7803250 PMID:7877648 PMID:7910348 PMID:7911872 More... NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588 		JBrowse link
G FBN1 fibrillin 1 IAGP ClinVar Annotator: match by term: Ischemic stroke HPO
ClinVar		 PMID:7611299 PMID:8894692 PMID:9401003 PMID:9536098 PMID:10533071 More... ORPHA:91387 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FCGR2A Fc gamma receptor IIa susceptibility IAGP DNA:SNPs:enhancers: (rs7512140, rs7535475)
DNA:SNPs:enhancers:multiple		 RGD PMID:20034444 PMID:19357503 RGD:5147920, RGD:5147924 NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013 		JBrowse link
G FGB fibrinogen beta chain susceptibility IAGP DNA:SNP:promoter:1038G>A (rs1800791) RGD PMID:18278190 RGD:5688760 NCBI chr 4:154,562,980...154,572,807
Ensembl chr 4:154,563,011...154,572,807 		JBrowse link
G FGG fibrinogen gamma chain susceptibility IAGP DNA:SNP:promoter:902A>G (rs1800792) RGD PMID:18278190 RGD:5688760 NCBI chr 4:154,604,136...154,612,656
Ensembl chr 4:154,604,134...154,612,967 		JBrowse link
G FOLH1 folate hydrolase 1 susceptibility IAGP DNA:SNPs,haplotypes:multiple RGD PMID:20458436 RGD:401794454 NCBI chr11:49,145,092...49,208,602
Ensembl chr11:49,145,092...49,208,638 		JBrowse link
G FOXE3 forkhead box E3 IAGP HPO ORPHA:91387 NCBI chr 1:47,416,285...47,418,052
Ensembl chr 1:47,416,285...47,418,052 		JBrowse link
G GNB2 G protein subunit beta 2 IAGP HPO MIM:619503 NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174 		JBrowse link
G GP6 glycoprotein VI platelet IAGP Sticky platelet syndrome type I associated with cerebral infarction;DNA:SNPs, haplotype:multiple RGD PMID:23168074 RGD:401794413 NCBI chr19:55,013,705...55,038,264
Ensembl chr19:55,013,705...55,038,264 		JBrowse link
G GRN granulin precursor IAGP ClinVar Annotator: match by term: Ischemic stroke ClinVar PMID:18723524 PMID:25741868 PMID:28492532 NCBI chr17:44,345,302...44,353,106
Ensembl chr17:44,345,246...44,353,106 		JBrowse link
G GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 IAGP HPO MIM:615750 NCBI chr 4:155,666,848...155,737,059
Ensembl chr 4:155,666,726...155,737,059 		JBrowse link
G H19 H19 imprinted maternally expressed transcript susceptibility IAGP DNA:SNPs,haplotypes: (rs217727,rs4929984) (human)
DNA:SNP::(rs217727) (human)		 RGD PMID:28203482 PMID:33541284 RGD:155900760, RGD:156430336 NCBI chr11:1,995,176...2,001,266
Ensembl chr11:1,995,165...2,004,552 		JBrowse link
G HBB hemoglobin subunit beta IAGP HPO ORPHA:232 NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395 		JBrowse link
G HEY2 hes related family bHLH transcription factor with YRPW motif 2 IAGP HPO ORPHA:91387 NCBI chr 6:125,749,632...125,761,269
Ensembl chr 6:125,747,664...125,761,269 		JBrowse link
G HLA-A major histocompatibility complex, class I, A susceptibility IAGP DNA:polymorphism::HLA-A31:01 (human) RGD PMID:24767290 RGD:401827096 NCBI chr 6:29,942,532...29,945,870
Ensembl chr 6:29,941,260...29,949,572 		JBrowse link
G HLA-B major histocompatibility complex, class I, B susceptibility IAGP DNA:polymorphism::HLA-B37:01 (human) RGD PMID:24767290 RGD:401827096 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility IAGP DNA:polymorphism:cds:HLA-DQB1*0402 RGD PMID:12373032 RGD:5147804 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 susceptibility IAGP DNA:polymorphism:cds:HLA-DRB1*0802
DNA:polymorphism,haplotype::HLA-B37:01 (human)		 RGD PMID:12373032 PMID:24767290 RGD:5147804, RGD:401827096 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G JAK2 Janus kinase 2 IAGP HPO MIM:614521 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948 		JBrowse link
G KALRN kalirin RhoGEF kinase susceptibility
sexual_dimorphism		 IAGP DNA:SNP:intron: (rs6438833) (human)
DNA:SNPs::multiple (human)
DNA:SNPs, haplotypes:intron,cds: (rs7620580, rs1708303) (human)		 RGD PMID:25917671 PMID:20107840 PMID:28706949 RGD:11085239, RGD:329955374, RGD:329956420 NCBI chr 3:124,033,369...124,726,325
Ensembl chr 3:124,033,369...124,726,325 		JBrowse link
G LDLR low density lipoprotein receptor susceptibility IAGP DNA:SNPs:introns: (rs2738446, rs2738450) RGD PMID:19589204 RGD:5490232 NCBI chr19:11,089,463...11,133,820
Ensembl chr19:11,089,418...11,133,820 		JBrowse link
G LOX lysyl oxidase IAGP HPO ORPHA:91387 NCBI chr 5:122,063,195...122,078,259
Ensembl chr 5:122,063,195...122,078,413 		JBrowse link
G MAT2A methionine adenosyltransferase 2A IAGP HPO ORPHA:91387 NCBI chr 2:85,539,168...85,545,281
Ensembl chr 2:85,539,168...85,545,281 		JBrowse link
G MFAP5 microfibril associated protein 5 IAGP HPO ORPHA:91387 NCBI chr12:8,645,943...8,662,826
Ensembl chr12:8,637,346...8,662,888 		JBrowse link
G MT-CO2 mitochondrially encoded cytochrome c oxidase II IAGP ClinVar Annotator: match by term: Ischemic stroke ClinVar NCBI chr MT:7,586...8,269
Ensembl chr MT:7,586...8,269 		JBrowse link
G MT-CYB mitochondrially encoded cytochrome b IAGP ClinVar Annotator: match by term: Ischemic stroke ClinVar NCBI chr MT:14,747...15,887
Ensembl chr MT:14,747...15,887 		JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility IAGP DNA:SNPs,haplotypes:multiple RGD PMID:20458436 RGD:401794454 NCBI chr 1:236,795,281...236,903,981
Ensembl chr 1:236,795,260...236,921,278 		JBrowse link
G MYH11 myosin heavy chain 11 IAGP HPO ORPHA:91387 NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,858,438 		JBrowse link
G MYLK myosin light chain kinase IAGP HPO ORPHA:91387 NCBI chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332 		JBrowse link
G NOS3 nitric oxide synthase 3 IAGP ClinVar Annotator: match by term: Ischemic stroke ClinVar PMID:9737779 PMID:9894802 PMID:10475066 PMID:10510054 PMID:10514107 More... NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588 		JBrowse link
G NOTCH3 notch receptor 3 IAGP ClinVar Annotator: match by term: Ischemic stroke ClinVar
HPO		 PMID:9388399 PMID:10371548 PMID:10802804 PMID:10854111 PMID:11102981 More... ORPHA:136 NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995 		JBrowse link
G NPPA natriuretic peptide A IAGP HPO ORPHA:1344 NCBI chr 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345 		JBrowse link
G NR1H3 nuclear receptor subfamily 1 group H member 3 susceptibility IAGP DNA:SNPs, haplotype:promoter:c.-115G>A, c.-840C>A (rs12221497, rs61896015) RGD PMID:21903943 RGD:401842365 NCBI chr11:47,248,300...47,269,033
Ensembl chr11:47,248,300...47,269,033 		JBrowse link
G PHACTR1 phosphatase and actin regulator 1 IAGP DNA:SNP:intron: (rs12526453) RGD PMID:23042660 RGD:401900685 NCBI chr 6:12,716,767...13,287,837
Ensembl chr 6:12,716,312...13,290,446 		JBrowse link
G PON2 paraoxonase 2 susceptibility IAGP DNA:SNPs,haplotypes: (rs11545941, rs6954345) (human) RGD PMID:20458436 RGD:401794454 NCBI chr 7:95,404,862...95,435,028
Ensembl chr 7:95,404,862...95,435,329 		JBrowse link
G PRKCH protein kinase C eta IAGP ClinVar Annotator: match by term: Ischemic stroke ClinVar PMID:17206144 PMID:25741868 NCBI chr14:61,187,468...61,550,976
Ensembl chr14:61,187,559...61,550,980 		JBrowse link
G PRKCH-AS1 PRKCH antisense RNA 1 IAGP ClinVar Annotator: match by term: Ischemic stroke ClinVar PMID:17206144 PMID:25741868 NCBI chr14:61,294,700...61,322,818
Ensembl chr14:61,294,909...61,322,838 		JBrowse link
G PRKG1 protein kinase cGMP-dependent 1 IAGP HPO ORPHA:91387 NCBI chr10:50,990,888...52,298,350
Ensembl chr10:50,990,888...52,298,423 		JBrowse link
G PTGIS prostaglandin I2 synthase exacerbates IAGP DNA:SNP, haplotype:3' utr: (rs5602)
DNA:SNPs:exon, 3' utr: (rs5629, rs5602)		 RGD PMID:28478978 PMID:28108096 RGD:401901149, RGD:401959400 NCBI chr20:49,503,874...49,568,137
Ensembl chr20:49,503,874...49,568,137 		JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP HPO ORPHA:1344 NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,743 		JBrowse link
G SELL selectin L susceptibility IAGP DNA:missense mutation:cds:p.P213S (human) RGD PMID:21465128 RGD:5685695 NCBI chr 1:169,690,667...169,711,620
Ensembl chr 1:169,690,665...169,711,702 		JBrowse link
G SLC2A10 solute carrier family 2 member 10 IAGP HPO MIM:208050 NCBI chr20:46,708,320...46,736,347
Ensembl chr20:46,709,649...46,736,347 		JBrowse link
G SMAD2 SMAD family member 2 IAGP HPO ORPHA:91387 NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146 		JBrowse link
G SMAD3 SMAD family member 3 IAGP HPO ORPHA:91387 NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173 		JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO ORPHA:91387 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G SMARCAL1 SNF2 related chromatin remodeling annealing helicase 1 IAGP HPO ORPHA:1830 NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053 		JBrowse link
G SON SON DNA and RNA binding protein IAGP HPO ORPHA:500150 NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481 		JBrowse link
G TGFB2 transforming growth factor beta 2 IAGP HPO ORPHA:91387 NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619 		JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP HPO ORPHA:91387 NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP HPO ORPHA:91387 NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP HPO ORPHA:91387 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
G THBD thrombomodulin susceptibility IAGP DNA:missense mutation:cds:p.A455V RGD PMID:15574195 RGD:5685021 NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672 		JBrowse link
G THSD4 thrombospondin type 1 domain containing 4 IAGP HPO ORPHA:91387 NCBI chr15:71,096,894...71,783,383
Ensembl chr15:71,096,952...71,783,383 		JBrowse link
G TYMS thymidylate synthetase susceptibility IAGP DNA:SNPs,haplotypes: (rs502396,rs16430,rs8423) RGD PMID:20458436 RGD:401794454 NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578 		JBrowse link
Jaw claudication term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HLA-B major histocompatibility complex, class I, B IAGP HPO ORPHA:397 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP HPO ORPHA:397 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G P4HA2 prolyl 4-hydroxylase subunit alpha 2 IAGP HPO ORPHA:397 NCBI chr 5:132,190,147...132,227,853
Ensembl chr 5:132,190,147...132,295,315 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP HPO ORPHA:397 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G SAA1 serum amyloid A1 IAGP HPO ORPHA:85445 NCBI chr11:18,266,264...18,269,967
Ensembl chr11:18,266,260...18,269,977 		JBrowse link
Lacunar stroke term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL4A1 collagen type IV alpha 1 chain IAGP HPO MIM:611773 NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202 		JBrowse link
G COLGALT1 collagen beta(1-O)galactosyltransferase 1 IAGP HPO MIM:618360 NCBI chr19:17,555,649...17,583,157
Ensembl chr19:17,555,649...17,583,162 		JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IAGP DNA:polymorphisms:cds:HLA-DQA1*0103, HLA-DQA1*0301 RGD PMID:11798899 RGD:5147807 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062 		JBrowse link
G HTRA1 HtrA serine peptidase 1 IAGP HPO MIM:600142 MIM:616779 NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907 		JBrowse link
G KALRN kalirin RhoGEF kinase susceptibility IAGP DNA:SNP:intron: (rs6438833) (human) RGD PMID:25917671 RGD:11085239 NCBI chr 3:124,033,369...124,726,325
Ensembl chr 3:124,033,369...124,726,325 		JBrowse link
G NAGA alpha-N-acetylgalactosaminidase IAGP HPO MIM:609242 NCBI chr22:42,058,334...42,070,842
Ensembl chr22:42,058,334...42,070,842 		JBrowse link
G NOTCH3 notch receptor 3 IAGP HPO MIM:125310 ORPHA:136 NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995 		JBrowse link
G PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha IAGP HPO MIM:618440 NCBI chr11:17,086,575...17,207,986
Ensembl chr11:17,077,730...17,207,986 		JBrowse link
Low pulse pressure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALB albumin IAGP HPO ORPHA:86816 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482 		JBrowse link
Pulmonary arterial hypertension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA3 ATP binding cassette subfamily A member 3 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar
HPO		 PMID:15976379 PMID:17597647 PMID:18246475 PMID:18317237 PMID:18603241 More... ORPHA:217563 NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746 		JBrowse link
G ABCC6 ATP binding cassette subfamily C member 6 IAGP HPO ORPHA:51608 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522 		JBrowse link
G ABCC8 ATP binding cassette subfamily C member 8 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25117148 PMID:25741868 NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894 		JBrowse link
G ABCD4 ATP binding cassette subfamily D member 4 IAGP HPO MIM:614857 NCBI chr14:74,285,269...74,302,934
Ensembl chr14:74,285,269...74,303,055 		JBrowse link
G ABI2 abl interactor 2 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar Annotator: match by term: Primary pulmonary hypertension		 ClinVar PMID:28492532 PMID:31727138 PMID:32581362 NCBI chr 2:203,328,394...203,432,169
Ensembl chr 2:203,328,280...203,447,728 		JBrowse link
G ACADL acyl-CoA dehydrogenase long chain IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:210,187,923...210,225,447
Ensembl chr 2:210,187,126...210,225,447 		JBrowse link
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 ACTC1 actin alpha cardiac muscle 1 IAGP HPO ORPHA:99103 NCBI chr15:34,790,230...34,795,549
Ensembl chr15:34,790,107...34,795,589 		JBrowse link
G ACVRL1 activin A receptor like type 1 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar
HPO		 PMID:11484689 PMID:15024723 PMID:15517393 PMID:15687131 PMID:16429404 More... MIM:600376 ORPHA:774 NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361 		JBrowse link
G ADAM23 ADAM metallopeptidase domain 23 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:206,443,532...206,621,127
Ensembl chr 2:206,443,532...206,621,127 		JBrowse link
G ADAMTSL2 ADAMTS like 2 IAGP HPO MIM:231050 NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519 		JBrowse link
G AFF4 ALF transcription elongation factor 4 IAGP HPO ORPHA:444077 NCBI chr 5:132,875,395...132,963,634
Ensembl chr 5:132,875,395...132,963,634 		JBrowse link
G AGK acylglycerol kinase IAGP HPO MIM:212350 NCBI chr 7:141,551,410...141,655,244
Ensembl chr 7:141,551,278...141,655,244 		JBrowse link
G AGR2 anterior gradient 2, protein disulphide isomerase family member IAGP HPO MIM:620233 NCBI chr 7:16,791,811...16,804,999
Ensembl chr 7:16,791,811...16,833,433 		JBrowse link
G AL162586.1 novel transcript IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 PMID:28492532 PMID:32581362 NCBI chr 9:127,816,066...127,822,520
Ensembl chr 9:127,816,066...127,822,520 		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 ALMS1 ALMS1 centrosome and basal body associated protein IAGP HPO ORPHA:64 NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166 		JBrowse link
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar Annotator: match by term: Primary pulmonary hypertension		 ClinVar PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074 More... NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112 		JBrowse link
G AOX1 aldehyde oxidase 1 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:200,586,014...200,682,241
Ensembl chr 2:200,586,014...200,677,064 		JBrowse link
G ARHGAP31 Rho GTPase activating protein 31 IAGP HPO MIM:100300 ORPHA:974 NCBI chr 3:119,294,383...119,420,714
Ensembl chr 3:119,294,383...119,420,714 		JBrowse link
G ARSB arylsulfatase B IAGP HPO MIM:253200 NCBI chr 5:78,777,209...78,985,958
Ensembl chr 5:78,777,209...78,986,087 		JBrowse link
G ATP13A3 ATPase 13A3 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar
HPO		 PMID:25741868 PMID:28492532 PMID:30679663 PMID:31727138 PMID:34493544 More... MIM:265400 NCBI chr 3:194,402,677...194,494,334
Ensembl chr 3:194,402,672...194,498,364 		JBrowse link
G ATP5F1A ATP synthase F1 subunit alpha IAGP HPO MIM:616045 NCBI chr18:46,080,248...46,104,227
Ensembl chr18:46,080,248...46,104,334 		JBrowse link
G BANF1 barrier to autointegration nuclear assembly factor 1 IAGP HPO MIM:614008 NCBI chr11:66,002,079...66,004,149
Ensembl chr11:66,002,228...66,004,149 		JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:24121792 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31727138 NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,755,786...86,932,825 		JBrowse link
G BMPR2 bone morphogenetic protein receptor type 2 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar Annotator: match by term: Primary pulmonary hypertension		 ClinVar
HPO		 PMID:3291115 PMID:9536098 PMID:9886286 PMID:10903931 PMID:10973254 More... MIM:178600 MIM:265450 NCBI chr 2:202,376,327...202,567,749
Ensembl chr 2:202,376,327...202,567,751 		JBrowse link
G BTNL2 butyrophilin like 2 IAGP HPO MIM:612387 NCBI chr 6:32,393,339...32,407,181
Ensembl chr 6:32,393,339...32,407,181 		JBrowse link
G BZW1 basic leucine zipper and W2 domains 1 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:200,811,589...200,827,338
Ensembl chr 2:200,810,594...200,827,338 		JBrowse link
G C2CD6 C2 calcium dependent domain containing 6 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:201,487,421...201,619,178
Ensembl chr 2:201,487,421...201,619,178 		JBrowse link
G C2orf80 chromosome 2 open reading frame 80 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:208,165,347...208,190,030
Ensembl chr 2:208,165,343...208,190,030 		JBrowse link
G CA2 carbonic anhydrase 2 IAGP HPO ORPHA:2785 NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493 		JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C IAGP HPO MIM:601005 MIM:620029 NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950 		JBrowse link
G CACNA1D calcium voltage-gated channel subunit alpha1 D IAGP HPO MIM:615474 ORPHA:369929 NCBI chr 3:53,494,611...53,813,733
Ensembl chr 3:53,328,963...53,813,733 		JBrowse link
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 CARF calcium responsive transcription factor IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar Annotator: match by term: Primary pulmonary hypertension		 ClinVar PMID:28492532 PMID:31727138 PMID:32581362 NCBI chr 2:202,912,275...202,988,263
Ensembl chr 2:202,912,214...202,988,263 		JBrowse link
G CASP10 caspase 10 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428 		JBrowse link
G CASP8 caspase 8 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:201,233,463...201,287,711
Ensembl chr 2:201,233,443...201,361,836 		JBrowse link
G CAV1 caveolin 1 IAGP HPO MIM:606721 MIM:615343 ORPHA:220393 ORPHA:220402 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179 		JBrowse link
G CCN2 cellular communication network factor 2 IAGP HPO ORPHA:220393 ORPHA:220402 NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372 		JBrowse link
G CCNYL1 cyclin Y like 1 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:207,711,640...207,756,174
Ensembl chr 2:207,711,540...207,761,839 		JBrowse link
G CCR6 C-C motif chemokine receptor 6 IAGP HPO ORPHA:220393 ORPHA:220402 NCBI chr 6:167,111,795...167,139,141
Ensembl chr 6:167,111,807...167,139,141 		JBrowse link
G CD28 CD28 molecule IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar Annotator: match by term: Primary pulmonary hypertension		 ClinVar PMID:28492532 PMID:31727138 PMID:32581362 NCBI chr 2:203,706,482...203,738,912
Ensembl chr 2:203,706,517...203,739,756 		JBrowse link
G CDK15 cyclin dependent kinase 15 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar Annotator: match by term: Primary pulmonary hypertension		 ClinVar PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074 More... NCBI chr 2:201,806,429...201,895,550
Ensembl chr 2:201,790,461...201,895,550 		JBrowse link
G CFLAR CASP8 and FADD like apoptosis regulator IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:201,116,164...201,176,687
Ensembl chr 2:201,116,154...201,176,687 		JBrowse link
G CHST3 carbohydrate sulfotransferase 3 IAGP HPO MIM:143095 NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 IAGP HPO ORPHA:99103 ORPHA:99105 NCBI chr 6:139,371,807...139,374,648
Ensembl chr 6:139,371,807...139,374,648 		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 CLK1 CDC like kinase 1 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:200,853,009...200,864,658
Ensembl chr 2:200,853,009...200,864,691 		JBrowse link
G CLXN calaxin IAGP HPO MIM:620642 NCBI chr 8:48,710,789...48,735,311
Ensembl chr 8:48,710,789...48,735,311 		JBrowse link
G CMKLR2 chemerin chemokine-like receptor 2 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:206,175,316...206,217,912
Ensembl chr 2:206,175,316...206,218,047 		JBrowse link
G COG1 component of oligomeric golgi complex 1 IAGP HPO ORPHA:263508 NCBI chr17:73,193,055...73,208,507
Ensembl chr17:73,193,055...73,208,507 		JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP HPO MIM:259420 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP HPO MIM:259420 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227 		JBrowse link
G COLQ collagen like tail subunit of asymmetric acetylcholinesterase IAGP HPO ORPHA:98915 NCBI chr 3:15,450,133...15,521,706
Ensembl chr 3:15,450,133...15,521,751 		JBrowse link
G COX5A cytochrome c oxidase subunit 5A IAGP HPO MIM:619064 NCBI chr15:74,919,791...74,938,073
Ensembl chr15:74,919,791...74,938,083 		JBrowse link
G COX6B1 cytochrome c oxidase subunit 6B1 IAGP HPO MIM:619051 NCBI chr19:35,648,323...35,658,782
Ensembl chr19:35,648,323...35,658,782 		JBrowse link
G COX7B cytochrome c oxidase subunit 7B IAGP HPO MIM:300887 NCBI chr  X:77,899,468...77,907,376
Ensembl chr  X:77,899,440...77,907,376 		JBrowse link
G COX8A cytochrome c oxidase subunit 8A IAGP HPO MIM:619059 NCBI chr11:63,974,620...63,976,543
Ensembl chr11:63,974,620...63,976,543 		JBrowse link
G CPO carboxypeptidase O IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:206,939,518...206,969,474
Ensembl chr 2:206,939,518...206,969,474 		JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:210,477,685...210,679,107
Ensembl chr 2:210,477,682...210,679,107 		JBrowse link
G CREB1 cAMP responsive element binding protein 1 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:207,529,962...207,605,988
Ensembl chr 2:207,529,737...207,605,988 		JBrowse link
G CRYGA crystallin gamma A IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:208,160,740...208,163,589
Ensembl chr 2:208,160,740...208,163,589 		JBrowse link
G CRYGB crystallin gamma B IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:208,142,573...208,146,158
Ensembl chr 2:208,142,573...208,146,158 		JBrowse link
G CRYGC crystallin gamma C IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:208,128,137...208,129,828
Ensembl chr 2:208,128,137...208,129,828 		JBrowse link
G CRYGD crystallin gamma D IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:208,121,607...208,124,524
Ensembl chr 2:208,121,607...208,124,524 		JBrowse link
G CTCF CCCTC-binding factor IAGP HPO ORPHA:363611 NCBI chr16:67,562,526...67,639,185
Ensembl chr16:67,562,467...67,639,177 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar Annotator: match by term: Primary pulmonary hypertension		 ClinVar PMID:28492532 PMID:31727138 PMID:32581362 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G CYP20A1 cytochrome P450 family 20 subfamily A member 1 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar Annotator: match by term: Primary pulmonary hypertension		 ClinVar PMID:28492532 PMID:31727138 PMID:32581362 NCBI chr 2:203,239,018...203,306,026
Ensembl chr 2:203,238,977...203,306,026 		JBrowse link
G DEF6 DEF6 guanine nucleotide exchange factor IAGP HPO MIM:619573 NCBI chr 6:35,297,818...35,321,771
Ensembl chr 6:35,297,818...35,321,771 		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 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 DYTN dystrotelin IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:206,651,621...206,718,396
Ensembl chr 2:206,651,621...206,721,570 		JBrowse link
G EEF1B2 eukaryotic translation elongation factor 1 beta 2 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:206,159,609...206,162,928
Ensembl chr 2:206,159,585...206,162,928 		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 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar
HPO		 PMID:25741868 PMID:28492532 PMID:32581362 MIM:234810 NCBI chr15:39,934,115...40,035,591
Ensembl chr15:39,934,115...40,035,591 		JBrowse link
G ENG endoglin IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar
HPO		 PMID:10625079 PMID:15517393 PMID:15521985 PMID:15879500 PMID:16705692 More... MIM:187300 ORPHA:774 NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO ORPHA:51608 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		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 ERI1 exoribonuclease 1 IAGP HPO MIM:620663 NCBI chr 8:9,002,897...9,100,104
Ensembl chr 8:9,002,147...9,116,746 		JBrowse link
G FAM117B family with sequence similarity 117 member B IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar Annotator: match by term: Primary pulmonary hypertension		 ClinVar PMID:28492532 PMID:31727138 PMID:32581362 NCBI chr 2:202,634,969...202,769,757
Ensembl chr 2:202,634,969...202,769,757 		JBrowse link
G FASTKD2 FAST kinase domains 2 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:206,765,606...206,796,189
Ensembl chr 2:206,765,357...206,796,189 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO MIM:614185 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FBXL4 F-box and leucine rich repeat protein 4 IAGP HPO MIM:615471 NCBI chr 6:98,868,535...98,947,946
Ensembl chr 6:98,868,535...98,948,006 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:2396 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO MIM:616482 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO MIM:216340 ORPHA:3472 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G FLACC1 flagellum associated containing coiled-coil domains 1 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:201,288,271...201,364,289
Ensembl chr 2:201,288,271...201,357,398 		JBrowse link
G FLNA filamin A IAGP HPO MIM:309350 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FOXF1 forkhead box F1 IAGP HPO MIM:265380 ORPHA:210122 NCBI chr16:86,510,527...86,515,422
Ensembl chr16:86,510,527...86,515,422 		JBrowse link
G FOXP1 forkhead box P1 IAGP HPO ORPHA:391372 NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978 		JBrowse link
G FZD5 frizzled class receptor 5 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:207,762,598...207,769,906
Ensembl chr 2:207,762,598...207,769,906 		JBrowse link
G FZD7 frizzled class receptor 7 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar Annotator: match by term: Primary pulmonary hypertension		 ClinVar PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074 More... NCBI chr 2:202,033,855...202,038,441
Ensembl chr 2:202,033,855...202,038,441 		JBrowse link
G G6PC3 glucose-6-phosphatase catalytic subunit 3 IAGP HPO MIM:612541 NCBI chr17:44,070,673...44,076,344
Ensembl chr17:44,070,620...44,082,151 		JBrowse link
G GATA4 GATA binding protein 4 IAGP HPO ORPHA:99103 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:614475 ORPHA:99103 NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528 		JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO MIM:230800 ORPHA:2072 ORPHA:77259 ORPHA:77261 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699 		JBrowse link
G GDF2 growth differentiation factor 2 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar
HPO		 PMID:25741868 PMID:26801773 PMID:28492532 PMID:31661308 PMID:31727138 ORPHA:774 NCBI chr10:47,322,454...47,327,588
Ensembl chr10:47,322,454...47,327,588 		JBrowse link
G GJB2 gap junction protein beta 2 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:17666888 PMID:25741868 PMID:30755392 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		JBrowse link
G HBB hemoglobin subunit beta IAGP HPO ORPHA:231222 ORPHA:232 NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395 		JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP HPO ORPHA:3287 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G HLA-DPB1 major histocompatibility complex, class II, DP beta 1 susceptibility IAGP DNA:polymorphisms:cds:HLA-DPB1*0202 RGD PMID:19165231 RGD:5143999 NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,936...33,089,696 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP HPO MIM:181000 ORPHA:220393 ORPHA:220402 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 susceptibility IAGP DNA:SNP:intron: (rs846906) (human) RGD PMID:32453474 RGD:329902062 NCBI chr 1:209,686,179...209,734,929
Ensembl chr 1:209,686,178...209,734,949 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO ORPHA:800 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G HYCC2 hyccin PI4KA lipid kinase complex subunit 2 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:200,973,718...201,071,671
Ensembl chr 2:200,973,718...201,071,671 		JBrowse link
G HYDIN HYDIN axonemal central pair apparatus protein IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chr16:70,802,084...71,230,722
Ensembl chr16:70,802,084...71,230,722 		JBrowse link
G ICA1L islet cell autoantigen 1 like IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar Annotator: match by term: Primary pulmonary hypertension		 ClinVar PMID:28492532 PMID:31727138 PMID:32581362 NCBI chr 2:202,773,176...202,871,766
Ensembl chr 2:202,773,150...202,871,766 		JBrowse link
G ICOS inducible T cell costimulator IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar Annotator: match by term: Primary pulmonary hypertension		 ClinVar PMID:28492532 PMID:31727138 PMID:32581362 NCBI chr 2:203,936,763...203,961,577
Ensembl chr 2:203,936,763...203,961,577 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074 		JBrowse link
G IDUA alpha-L-iduronidase IAGP HPO MIM:607015 NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564 		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 IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP HPO ORPHA:464 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046 		JBrowse link
G IL12B interleukin 12B IAGP HPO ORPHA:3287 NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,863 		JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer IAGP HPO MIM:619751 NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022 		JBrowse link
G INO80D INO80 complex subunit D IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:205,993,721...206,086,174
Ensembl chr 2:205,993,721...206,086,303 		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 IRF5 interferon regulatory factor 5 IAGP HPO ORPHA:220393 ORPHA:220402 NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038 		JBrowse link
G JAK2 Janus kinase 2 IAGP HPO ORPHA:71493 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948 		JBrowse link
G KANSL1L KAT8 regulatory NSL complex subunit 1 like IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:210,021,421...210,172,760
Ensembl chr 2:210,021,421...210,171,409 		JBrowse link
G KCNA5 potassium voltage-gated channel subfamily A member 5 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:23861362 PMID:25741868 PMID:28492532 NCBI chr12:5,043,879...5,046,788
Ensembl chr12:5,043,879...5,046,788 		JBrowse link
G KCNK3 potassium two pore domain channel subfamily K member 3 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar
HPO		 PMID:32581362 MIM:615344 NCBI chr 2:26,692,722...26,733,420
Ensembl chr 2:26,692,722...26,733,420 		JBrowse link
G KCTD18 potassium channel tetramerization domain containing 18 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:200,488,958...200,510,068
Ensembl chr 2:200,488,958...200,519,784 		JBrowse link
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 KIAA0319L KIAA0319 like IAGP HPO ORPHA:220402 NCBI chr 1:35,433,492...35,557,661
Ensembl chr 1:35,393,883...35,557,950 		JBrowse link
G KLF7 KLF transcription factor 7 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:207,074,137...207,173,851
Ensembl chr 2:207,074,137...207,173,856 		JBrowse link
G KMT2D lysine methyltransferase 2D IAGP HPO MIM:147920 MIM:620186 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO ORPHA:2396 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G KRT18 keratin 18 IAGP HPO MIM:215600 NCBI chr12:52,948,855...52,952,906
Ensembl chr12:52,948,871...52,952,906 		JBrowse link
G LAMA2 laminin subunit alpha 2 IAGP HPO ORPHA:258 NCBI chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566 		JBrowse link
G LAMB2 laminin subunit beta 2 IAGP HPO ORPHA:98915 NCBI chr 3:49,121,114...49,133,050
Ensembl chr 3:49,121,114...49,133,118 		JBrowse link
G LANCL1 LanC like glutathione S-transferase 1 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:210,431,251...210,477,584
Ensembl chr 2:210,427,131...210,477,652 		JBrowse link
G LARS2 leucyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:617021 NCBI chr 3:45,388,576...45,549,407
Ensembl chr 3:45,388,561...45,554,726 		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
G LIPT1 lipoyltransferase 1 IAGP HPO MIM:616299 NCBI chr 2:99,154,967...99,163,137
Ensembl chr 2:99,154,955...99,163,157 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:740 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G LOC129935429 ATAC-STARR-seq lymphoblastoid active region 16999 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:202,375,175...202,375,334 JBrowse link
G LOC129935430 ATAC-STARR-seq lymphoblastoid active region 17000 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:202,375,445...202,375,734 JBrowse link
G LOC129935431 ATAC-STARR-seq lymphoblastoid silent region 12241 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:202,375,825...202,375,874 JBrowse link
G LOC129935432 ATAC-STARR-seq lymphoblastoid silent region 12242 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:202,376,025...202,376,514 JBrowse link
G LOC129935433 ATAC-STARR-seq lymphoblastoid silent region 12243 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:202,376,645...202,376,704 JBrowse link
G LOC129935434 ATAC-STARR-seq lymphoblastoid silent region 12244 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar Annotator: match by term: Primary pulmonary hypertension		 ClinVar PMID:19223935 PMID:25741868 PMID:28492532 PMID:32581362 NCBI chr 2:202,376,775...202,376,834 JBrowse link
G LOC129935435 ATAC-STARR-seq lymphoblastoid active region 17001 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:202,377,675...202,377,744 JBrowse link
G LOC129935436 ATAC-STARR-seq lymphoblastoid silent region 12245 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:202,545,681...202,545,750 JBrowse link
G MAP2 microtubule associated protein 2 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:209,424,047...209,734,112
Ensembl chr 2:209,424,047...209,734,147 		JBrowse link
G MDH1B malate dehydrogenase 1B IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:206,737,763...206,765,328
Ensembl chr 2:206,737,763...206,765,328 		JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO ORPHA:93932 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G MED25 mediator complex subunit 25 IAGP HPO MIM:616449 ORPHA:464738 NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,282...49,840,383 		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 METTL21A methyltransferase 21A, HSPA lysine IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:207,580,635...207,626,053
Ensembl chr 2:207,580,631...207,625,928 		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 MLX MAX dimerization protein MLX IAGP HPO ORPHA:3287 NCBI chr17:42,567,100...42,573,203
Ensembl chr17:42,567,072...42,573,239 		JBrowse link
G MMACHC metabolism of cobalamin associated C IAGP HPO MIM:277400 ORPHA:79282 NCBI chr 1:45,500,300...45,513,382
Ensembl chr 1:45,500,300...45,513,382 		JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor IAGP HPO ORPHA:71493 NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466 		JBrowse link
G MPP4 MAGUK p55 scaffold protein 4 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:201,644,874...201,698,644
Ensembl chr 2:201,644,870...201,698,694 		JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I IAGP HPO ORPHA:550 NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445 		JBrowse link
G MT-CO2 mitochondrially encoded cytochrome c oxidase II IAGP HPO ORPHA:550 NCBI chr MT:7,586...8,269
Ensembl chr MT:7,586...8,269 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III IAGP HPO ORPHA:550 NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP HPO ORPHA:550 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 IAGP HPO ORPHA:550 NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137 		JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 IAGP HPO ORPHA:550 NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148 		JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 IAGP HPO ORPHA:550 NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673 		JBrowse link
G MT-TF mitochondrially encoded tRNA-Phe (UUU/C) IAGP HPO ORPHA:550 NCBI chr MT:577...647
Ensembl chr MT:577...647 		JBrowse link
G MT-TH mitochondrially encoded tRNA-His (CAU/C) IAGP HPO ORPHA:550 NCBI chr MT:12,138...12,206
Ensembl chr MT:12,138...12,206 		JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP HPO ORPHA:550 NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304 		JBrowse link
G MT-TQ mitochondrially encoded tRNA-Gln (CAA/G) IAGP HPO ORPHA:550 NCBI chr MT:4,329...4,400
Ensembl chr MT:4,329...4,400 		JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP HPO ORPHA:550 NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514 		JBrowse link
G MT-TS2 mitochondrially encoded tRNA-Ser (AGU/C) 2 IAGP HPO ORPHA:550 NCBI chr MT:12,207...12,265
Ensembl chr MT:12,207...12,265 		JBrowse link
G MT-TW mitochondrially encoded tRNA-Trp (UGA/G) IAGP HPO ORPHA:550 NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579 		JBrowse link
G MUC5B mucin 5B, oligomeric mucus/gel-forming IAGP HPO MIM:178500 NCBI chr11:1,223,066...1,262,172
Ensembl chr11:1,223,066...1,262,172 		JBrowse link
G MYBPC3 myosin binding protein C3 IAGP HPO MIM:615396 NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702 		JBrowse link
G MYH6 myosin heavy chain 6 IAGP HPO ORPHA:99103 NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273 		JBrowse link
G MYH7 myosin heavy chain 7 IAGP HPO MIM:613426 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
G MYL1 myosin light chain 1 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:210,290,150...210,315,174
Ensembl chr 2:210,290,150...210,315,174 		JBrowse link
G MYMK myomaker, myoblast fusion factor IAGP HPO MIM:254940 NCBI chr 9:133,514,586...133,524,959
Ensembl chr 9:133,514,586...133,528,612 		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 NBEAL1 neurobeachin like 1 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar Annotator: match by term: Primary pulmonary hypertension		 ClinVar PMID:28492532 PMID:31727138 PMID:32581362 NCBI chr 2:203,014,608...203,225,194
Ensembl chr 2:203,014,608...203,226,378 		JBrowse link
G NDUFA8 NADH:ubiquinone oxidoreductase subunit A8 IAGP HPO MIM:619272 NCBI chr 9:122,132,466...122,159,779
Ensembl chr 9:122,144,058...122,159,779 		JBrowse link
G NDUFB10 NADH:ubiquinone oxidoreductase subunit B10 IAGP HPO MIM:619003 NCBI chr16:1,959,538...1,961,975
Ensembl chr16:1,959,538...1,961,975 		JBrowse link
G NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:201,072,001...201,085,750
Ensembl chr 2:201,071,433...201,085,750 		JBrowse link
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:206,114,817...206,159,444
Ensembl chr 2:206,114,817...206,159,509 		JBrowse link
G NF1 neurofibromin 1 IAGP HPO ORPHA:97685 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G NFIX nuclear factor I X IAGP HPO MIM:602535 ORPHA:447980 NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796 		JBrowse link
G NFU1 NFU1 iron-sulfur cluster scaffold IAGP HPO MIM:605711 NCBI chr 2:69,395,750...69,439,567
Ensembl chr 2:69,396,113...69,437,628 		JBrowse link
G NIF3L1 NGG1 interacting factor 3 like 1 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:200,889,327...200,903,932
Ensembl chr 2:200,889,327...200,903,938 		JBrowse link
G NKX2-1 NK2 homeobox 1 IAGP HPO ORPHA:209905 NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149 		JBrowse link
G NKX2-5 NK2 homeobox 5 IAGP HPO ORPHA:99103 NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 IAGP HPO ORPHA:90340 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077 		JBrowse link
G NOP58 NOP58 ribonucleoprotein IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar Annotator: match by term: Primary pulmonary hypertension		 ClinVar PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074 More... NCBI chr 2:202,265,763...202,303,661
Ensembl chr 2:202,265,736...202,303,661 		JBrowse link
G NOTCH1 notch receptor 1 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar
HPO		 PMID:15472075 PMID:16614245 PMID:18593716 PMID:19245433 PMID:19635999 More... MIM:616028 ORPHA:974 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048 		JBrowse link
G NOTCH3 notch receptor 3 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:22006983 PMID:22153900 PMID:22159056 PMID:24086431 PMID:25741868 More... NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995 		JBrowse link
G NRP2 neuropilin 2 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:205,682,501...205,798,131
Ensembl chr 2:205,681,990...205,798,133 		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 ORC2 origin recognition complex subunit 2 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:200,908,977...200,963,660
Ensembl chr 2:200,908,977...200,963,680 		JBrowse link
G PAM16 presequence translocase associated motor 16 IAGP HPO MIM:613320 NCBI chr16:4,340,251...4,351,321
Ensembl chr16:4,331,549...4,355,607 		JBrowse link
G PARD3B par-3 family cell polarity regulator beta IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:204,545,475...205,620,162
Ensembl chr 2:204,545,475...205,620,162 		JBrowse link
G PDSS1 decaprenyl diphosphate synthase subunit 1 IAGP HPO MIM:614651 NCBI chr10:26,697,701...26,746,798
Ensembl chr10:26,697,701...26,746,798 		JBrowse link
G PGM1 phosphoglucomutase 1 IAGP HPO MIM:614921 NCBI chr 1:63,593,411...63,660,245
Ensembl chr 1:63,593,411...63,660,245 		JBrowse link
G PHF6 PHD finger protein 6 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chr  X:134,373,312...134,428,790
Ensembl chr  X:134,373,288...134,428,791 		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 PIKFYVE phosphoinositide kinase, FYVE-type zinc finger containing IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:208,266,056...208,358,746
Ensembl chr 2:208,266,255...208,358,746 		JBrowse link
G PLEKHM3 pleckstrin homology domain containing M3 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:207,821,288...208,025,527
Ensembl chr 2:207,821,288...208,025,527 		JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:6144131 PMID:16144131 PMID:16283678 PMID:18602922 PMID:19283792 More... NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,130 		JBrowse link
G PPCS phosphopantothenoylcysteine synthetase IAGP HPO MIM:618189 NCBI chr 1:42,456,341...42,473,417
Ensembl chr 1:42,456,117...42,473,385 		JBrowse link
G PPIL3 peptidylprolyl isomerase like 3 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:200,870,907...200,889,291
Ensembl chr 2:200,870,907...200,889,303 		JBrowse link
G PRDX1 peroxiredoxin 1 IAGP HPO MIM:277400 NCBI chr 1:45,511,051...45,522,890
Ensembl chr 1:45,510,914...45,542,732 		JBrowse link
G PRIM1 DNA primase subunit 1 IAGP HPO MIM:620005 NCBI chr12:56,731,580...56,752,323
Ensembl chr12:56,730,438...56,752,374 		JBrowse link
G PSMB9 proteasome 20S subunit beta 9 IAGP HPO MIM:620796 NCBI chr 6:32,854,192...32,859,851
Ensembl chr 6:32,844,136...32,860,734 		JBrowse link
G PTGIS prostaglandin I2 synthase susceptibility IAGP DNA:SNP, missense mutations:intron 4, CDS:c.521+1G>A, p.R252Q (c.755G>A), p.A447T (c.1339G>A) (, rs759344518, rs146531327)
DNA:repeat, SNPs:promoter, intron: , 185C>T, 325C>A ( , rs5582, rs116939356)		 RGD PMID:32236489 PMID:24605778 RGD:401901150, RGD:401959406 NCBI chr20:49,503,874...49,568,137
Ensembl chr20:49,503,874...49,568,137 		JBrowse link
G PTH2R parathyroid hormone 2 receptor IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:208,359,692...208,494,506
Ensembl chr 2:208,359,714...208,854,503 		JBrowse link
G RAPH1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar Annotator: match by term: Primary pulmonary hypertension		 ClinVar PMID:28492532 PMID:31727138 PMID:32581362 NCBI chr 2:203,433,682...203,535,301
Ensembl chr 2:203,394,345...203,535,335 		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 RPE ribulose-5-phosphate-3-epimerase IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:210,002,638...210,022,260
Ensembl chr 2:210,002,565...210,022,260 		JBrowse link
G RPL3L ribosomal protein L3 like IAGP HPO MIM:619371 NCBI chr16:1,943,974...1,954,689
Ensembl chr16:1,943,974...1,957,606 		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 SARS2 seryl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:613845 NCBI chr19:38,915,266...38,930,763
Ensembl chr19:38,915,266...38,930,763 		JBrowse link
G SCARB2 scavenger receptor class B member 2 IAGP HPO ORPHA:77259 NCBI chr 4:76,158,737...76,234,532
Ensembl chr 4:76,158,737...76,234,536 		JBrowse link
G SFTPA2 surfactant protein A2 IAGP HPO MIM:178500 NCBI chr10:79,555,852...79,560,407
Ensembl chr10:79,555,852...79,560,407 		JBrowse link
G SFTPB surfactant protein B IAGP HPO MIM:265120 ORPHA:217563 NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741 		JBrowse link
G SFTPC surfactant protein C IAGP HPO MIM:178500 MIM:610913 NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479 		JBrowse link
G SGO2 shugoshin 2 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:200,526,142...200,584,096
Ensembl chr 2:200,510,008...200,584,096 		JBrowse link
G SLC25A24 solute carrier family 25 member 24 IAGP HPO MIM:612289 NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849 		JBrowse link
G SLC29A3 solute carrier family 29 member 3 IAGP HPO MIM:602782 NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP HPO MIM:232240 NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906 		JBrowse link
G SMAD4 SMAD family member 4 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar
HPO		 PMID:25559809 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29684080 ORPHA:774 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G SMAD9 SMAD family member 9 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar
HPO		 MIM:615342 NCBI chr13:36,844,831...36,920,854
Ensembl chr13:36,844,831...36,920,887 		JBrowse link
G SMARCAL1 SNF2 related chromatin remodeling annealing helicase 1 IAGP HPO MIM:242900 ORPHA:1830 NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053 		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 SOX17 SRY-box transcription factor 17 susceptibility
onset		 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension
DNA:SNPs:enhancers: (rs10103692, rs13266183)
DNA:frameshift mutations, missense mutations, SNP:CDS, intron:multiple
DNA:nonsense mutation:CDS:p.Q127*
associated with congenital heart disease;DNA:mutations:multiple		 ClinVar
RGD		 PMID:30527955 PMID:29650961 PMID:33952808 PMID:30029678 RGD:329955464, RGD:329853735, RGD:329853326, RGD:329853313 NCBI chr 8:54,457,935...54,460,892
Ensembl chr 8:54,457,935...54,460,892 		JBrowse link
G SPATS2L spermatogenesis associated serine rich 2 like IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:200,305,879...200,482,264
Ensembl chr 2:200,305,881...200,482,264 		JBrowse link
G STAT1 signal transducer and activator of transcription 1 IAGP HPO ORPHA:391487 NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960 		JBrowse link
G STRADB STE20 related adaptor beta IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:201,451,740...201,480,846
Ensembl chr 2:201,387,858...201,480,846 		JBrowse link
G SUMO1 small ubiquitin like modifier 1 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar Annotator: match by term: Primary pulmonary hypertension		 ClinVar PMID:16429395 PMID:16429403 PMID:27453251 PMID:28492532 PMID:29743074 More... NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,182...202,238,599 		JBrowse link
G TBX20 T-box transcription factor 20 IAGP HPO ORPHA:99103 NCBI chr 7:35,202,430...35,254,100
Ensembl chr 7:35,202,430...35,254,100 		JBrowse link
G TBX4 T-box transcription factor 4 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar
HPO		 PMID:15106123 PMID:25741868 PMID:28492532 PMID:29120062 PMID:29650961 More... ORPHA:261279 NCBI chr17:61,452,422...61,485,110
Ensembl chr17:61,452,404...61,485,110 		JBrowse link
G TBX5 T-box transcription factor 5 IAGP HPO MIM:142900 NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442 		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 TERT telomerase reverse transcriptase IAGP HPO MIM:178500 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G THPO thrombopoietin IAGP HPO ORPHA:71493 NCBI chr 3:184,371,935...184,379,688
Ensembl chr 3:184,371,935...184,381,968 		JBrowse link
G THSD1 thrombospondin type 1 domain containing 1 IAGP HPO MIM:620244 NCBI chr13:52,377,167...52,406,172
Ensembl chr13:52,377,167...52,416,373 		JBrowse link
G TLL1 tolloid like 1 IAGP HPO ORPHA:99103 ORPHA:99106 NCBI chr 4:165,873,237...166,104,457
Ensembl chr 4:165,873,237...166,104,457 		JBrowse link
G TMEM237 transmembrane protein 237 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570 		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 TOPBP1 DNA topoisomerase II binding protein 1 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:25741868 NCBI chr 3:133,600,238...133,661,941
Ensembl chr 3:133,598,175...133,662,380 		JBrowse link
G TRAK2 trafficking kinesin protein 2 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension ClinVar PMID:32581362 NCBI chr 2:201,377,207...201,451,458
Ensembl chr 2:201,377,207...201,451,500 		JBrowse link
G TRRAP transformation/transcription domain associated protein IAGP HPO MIM:618454 NCBI chr 7:98,878,532...99,013,241
Ensembl chr 7:98,877,933...99,050,831 		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 UNC80 unc-80 homolog, NALCN channel complex subunit IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:209,771,832...209,999,296
Ensembl chr 2:209,771,569...209,999,300 		JBrowse link
G VAC14 VAC14 component of PIKFYVE complex IAGP HPO ORPHA:3472 NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160 		JBrowse link
G VCL vinculin IAGP HPO MIM:613255 NCBI chr10:73,998,116...74,121,363
Ensembl chr10:73,995,193...74,121,363 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP HPO MIM:263400 NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,676 		JBrowse link
G VPS33A VPS33A core subunit of CORVET and HOPS complexes IAGP HPO ORPHA:505248 NCBI chr12:122,229,564...122,266,494
Ensembl chr12:122,229,564...122,266,502 		JBrowse link
G WDR12 WD repeat domain 12 IAGP ClinVar Annotator: match by term: Pulmonary arterial hypertension
ClinVar Annotator: match by term: Primary pulmonary hypertension		 ClinVar PMID:28492532 PMID:31727138 PMID:32581362 NCBI chr 2:202,874,261...202,911,673
Ensembl chr 2:202,874,261...203,014,798 		JBrowse link
G ZDBF2 zinc finger DBF-type containing 2 IAGP ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:28492532 PMID:31727138 NCBI chr 2:206,274,663...206,314,427
Ensembl chr 2:206,274,663...206,314,427 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO ORPHA:740 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		JBrowse link
G ZNF699 zinc finger protein 699 IAGP HPO MIM:619488 NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838 		JBrowse link
Pulmonary arterial hypertension with lack of acute response to NO challenge term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNK3 potassium two pore domain channel subfamily K member 3 IAGP HPO MIM:615344 NCBI chr 2:26,692,722...26,733,420
Ensembl chr 2:26,692,722...26,733,420 		JBrowse link
Pulmonary embolism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVRL1 activin A receptor like type 1 IAGP HPO ORPHA:774 NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361 		JBrowse link
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 AKT1 AKT serine/threonine kinase 1 IAGP HPO ORPHA:744 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759 		JBrowse link
G C4A complement C4A (Chido/Rodgers blood group) IAGP HPO ORPHA:117 NCBI chr 6:31,982,057...32,002,681
Ensembl chr 6:31,982,057...32,002,681 		JBrowse link
G CBS cystathionine beta-synthase IAGP HPO ORPHA:394 NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,053,191...43,076,943 		JBrowse link
G CCR1 C-C motif chemokine receptor 1 IAGP HPO ORPHA:117 NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313 		JBrowse link
G CD55 CD55 molecule (Cromer blood group) IAGP HPO MIM:226300 NCBI chr 1:207,321,678...207,360,966
Ensembl chr 1:207,321,519...207,386,804 		JBrowse link
G ENG endoglin IAGP HPO ORPHA:774 NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773 		JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 IAGP HPO ORPHA:117 NCBI chr 5:96,760,813...96,935,854
Ensembl chr 5:96,760,810...96,808,100 		JBrowse link
G F13A1 coagulation factor XIII A chain IAGP HPO MIM:188050 NCBI chr 6:6,144,084...6,320,662
Ensembl chr 6:6,144,084...6,321,013 		JBrowse link
G F2 coagulation factor II, thrombin susceptibility
no_association		 IAGP DNA:SNP:3' utr:19911A>G
DNA:SNP:3' utr:20221C>T		 HPO
RGD		 PMID:25316662 PMID:25316662 MIM:188050, RGD:10449427, RGD:10449427 NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506 		JBrowse link
G F8 coagulation factor VIII IAGP HPO MIM:301071 NCBI chr  X:154,835,792...155,022,723
Ensembl chr  X:154,835,788...155,026,940 		JBrowse link
G FAS Fas cell surface death receptor IAGP HPO ORPHA:117 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G 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 GNAQ G protein subunit alpha q IAGP HPO ORPHA:3205 ORPHA:624 NCBI chr 9:77,716,097...78,031,811
Ensembl chr 9:77,716,097...78,031,811 		JBrowse link
G HABP2 hyaluronan binding protein 2 IAGP HPO MIM:188050 NCBI chr10:113,550,831...113,589,602
Ensembl chr10:113,550,837...113,589,602 		JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP HPO ORPHA:117 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G IFNGR1 interferon gamma receptor 1 IAGP HPO ORPHA:117 NCBI chr 6:137,197,484...137,219,385
Ensembl chr 6:137,197,483...137,219,449 		JBrowse link
G IL10 interleukin 10 IAGP HPO ORPHA:117 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IL12A interleukin 12A IAGP HPO ORPHA:117 NCBI chr 3:159,988,835...159,996,019
Ensembl chr 3:159,988,835...159,996,019 		JBrowse link
G IL12A-AS1 IL12A antisense RNA 1 IAGP HPO ORPHA:117 NCBI chr 3:159,913,400...160,207,092
Ensembl chr 3:159,902,045...160,226,966 		JBrowse link
G IL23R interleukin 23 receptor IAGP HPO ORPHA:117 NCBI chr 1:67,138,637...67,265,903
Ensembl chr 1:67,138,907...67,259,979 		JBrowse link
G JAK2 Janus kinase 2 IAGP HPO ORPHA:729 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948 		JBrowse link
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 IAGP HPO MIM:613485 NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163 		JBrowse link
G KLRC4 killer cell lectin like receptor C4 IAGP HPO ORPHA:117 NCBI chr12:10,407,384...10,409,757
Ensembl chr12:10,403,059...10,409,757 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP HPO ORPHA:117 NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633 		JBrowse link
G MMACHC metabolism of cobalamin associated C IAGP HPO ORPHA:79282 NCBI chr 1:45,500,300...45,513,382
Ensembl chr 1:45,500,300...45,513,382 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase IAGP HPO MIM:188050 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO ORPHA:447 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		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 PLP1 proteolipid protein 1 IAGP HPO ORPHA:99015 NCBI chr  X:103,776,506...103,792,619
Ensembl chr  X:103,773,718...103,792,619 		JBrowse link
G PROC protein C, inactivator of coagulation factors Va and VIIIa IAGP HPO MIM:176860 MIM:612304 ORPHA:745 NCBI chr 2:127,418,427...127,429,242
Ensembl chr 2:127,418,427...127,429,242 		JBrowse link
G PROS1 protein S IAGP HPO MIM:612336 MIM:614514 ORPHA:743 NCBI chr 3:93,873,051...93,973,896
Ensembl chr 3:93,873,051...93,980,003 		JBrowse link
G RHAG Rh associated glycoprotein IAGP HPO MIM:185000 NCBI chr 6:49,605,175...49,636,839
Ensembl chr 6:49,605,175...49,636,839 		JBrowse link
G SERPINC1 serpin family C member 1 IAGP HPO MIM:613118 ORPHA:82 NCBI chr 1:173,903,800...173,917,327
Ensembl chr 1:173,903,800...173,917,327 		JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO ORPHA:774 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP HPO ORPHA:117 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435 		JBrowse link
G THBD thrombomodulin IAGP HPO MIM:614486 NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672 		JBrowse link
G TLR4 toll like receptor 4 IAGP HPO ORPHA:117 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735 		JBrowse link
G UBAC2 UBA domain containing 2 IAGP HPO ORPHA:117 NCBI chr13:99,200,854...99,386,504
Ensembl chr13:99,200,774...99,386,504 		JBrowse link
Pulmonary venous hypertension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNC filamin C IAGP HPO ORPHA:75249 NCBI chr 7:128,830,406...128,859,272
Ensembl chr 7:128,830,406...128,859,274 		JBrowse link
G KCNN4 potassium calcium-activated channel subfamily N member 4 IAGP HPO ORPHA:3202 NCBI chr19:43,766,533...43,780,973
Ensembl chr19:43,766,533...43,780,976 		JBrowse link
G KIF20A kinesin family member 20A IAGP HPO ORPHA:75249 NCBI chr 5:138,179,112...138,187,723
Ensembl chr 5:138,178,719...138,187,723 		JBrowse link
G MYPN myopalladin IAGP HPO ORPHA:75249 NCBI chr10:68,087,897...68,212,017
Ensembl chr10:68,087,897...68,212,017 		JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 (Er blood group) IAGP HPO ORPHA:3202 NCBI chr16:88,715,338...88,785,220
Ensembl chr16:88,715,338...88,785,220 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP HPO ORPHA:79259 NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906 		JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) IAGP HPO ORPHA:3202 NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141 		JBrowse link
G TNNI3 troponin I3, cardiac type IAGP HPO ORPHA:75249 NCBI chr19:55,151,767...55,157,732
Ensembl chr19:55,151,767...55,157,773 		JBrowse link
G TNNT2 troponin T2, cardiac type IAGP HPO ORPHA:75249 NCBI chr 1:201,359,014...201,377,680
Ensembl chr 1:201,359,008...201,377,764 		JBrowse link
Raynaud phenomenon term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACP5 acid phosphatase 5, tartrate resistant IAGP HPO MIM:607944 ORPHA:1855 NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993 		JBrowse link
G ADA2 adenosine deaminase 2 IAGP HPO MIM:615688 ORPHA:820 NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235 		JBrowse link
G ADAR adenosine deaminase RNA specific IAGP HPO ORPHA:51 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013 		JBrowse link
G AGXT alanine--glyoxylate aminotransferase IAGP HPO MIM:259900 NCBI chr 2:240,868,824...240,880,500
Ensembl chr 2:240,868,824...240,880,502 		JBrowse link
G APOLD1 apolipoprotein L domain containing 1 IAGP HPO MIM:620715 NCBI chr12:12,725,917...12,791,466
Ensembl chr12:12,725,917...12,829,975 		JBrowse link
G BANK1 B cell scaffold protein with ankyrin repeats 1 IAGP HPO ORPHA:536 NCBI chr 4:101,790,730...102,074,812
Ensembl chr 4:101,411,286...102,074,812 		JBrowse link
G BLK BLK proto-oncogene, Src family tyrosine kinase IAGP HPO ORPHA:536 NCBI chr 8:11,494,387...11,564,599
Ensembl chr 8:11,486,894...11,564,599 		JBrowse link
G C4A complement C4A (Chido/Rodgers blood group) IAGP HPO ORPHA:536 NCBI chr 6:31,982,057...32,002,681
Ensembl chr 6:31,982,057...32,002,681 		JBrowse link
G C4B complement C4B (Chido/Rodgers blood group) IAGP HPO ORPHA:536 NCBI chr 6:32,014,795...32,035,418
Ensembl chr 6:32,014,795...32,035,418 		JBrowse link
G CLCNKB chloride voltage-gated channel Kb IAGP HPO ORPHA:358 NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain IAGP HPO MIM:611773 NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202 		JBrowse link
G COQ2 coenzyme Q2, polyprenyltransferase IAGP HPO ORPHA:227510 ORPHA:98933 NCBI chr 4:83,263,824...83,285,134
Ensembl chr 4:83,261,536...83,284,914 		JBrowse link
G CR2 complement C3d receptor 2 IAGP HPO ORPHA:536 NCBI chr 1:207,454,328...207,489,892
Ensembl chr 1:207,453,024...207,489,895 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP HPO ORPHA:536 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G DNASE1 deoxyribonuclease 1 IAGP HPO ORPHA:536 NCBI chr16:3,611,760...3,665,461
Ensembl chr16:3,611,728...3,680,143 		JBrowse link
G ETS1 ETS proto-oncogene 1, transcription factor IAGP HPO ORPHA:536 NCBI chr11:128,458,765...128,587,558
Ensembl chr11:128,458,761...128,587,558 		JBrowse link
G FCGR2B Fc gamma receptor IIb IAGP HPO ORPHA:536 NCBI chr 1:161,647,243...161,678,654
Ensembl chr 1:161,663,143...161,678,654 		JBrowse link
G FCGR3B Fc gamma receptor IIIb IAGP HPO ORPHA:536 NCBI chr 1:161,623,196...161,631,963
Ensembl chr 1:161,623,196...161,631,963 		JBrowse link
G GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 IAGP HPO MIM:615750 ORPHA:401945 NCBI chr 4:155,666,848...155,737,059
Ensembl chr 4:155,666,726...155,737,059 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP HPO ORPHA:536 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP HPO ORPHA:2874 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO ORPHA:51 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
G IGHG1 immunoglobulin heavy constant gamma 1 (G1m marker) IAGP HPO ORPHA:536 NCBI chr14:105,741,473...105,743,070
Ensembl chr14:105,736,343...105,743,071 		JBrowse link
G IL10 interleukin 10 IAGP HPO ORPHA:536 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 IAGP HPO ORPHA:536 ORPHA:93552 NCBI chr  X:154,010,507...154,019,902
Ensembl chr  X:154,010,506...154,019,902 		JBrowse link
G IRF5 interferon regulatory factor 5 IAGP HPO ORPHA:536 NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038 		JBrowse link
G ITGAM integrin subunit alpha M IAGP HPO ORPHA:536 NCBI chr16:31,259,975...31,332,877
Ensembl chr16:31,259,967...31,332,892 		JBrowse link
G JAZF1 JAZF zinc finger 1 IAGP HPO ORPHA:536 NCBI chr 7:27,830,577...28,180,795
Ensembl chr 7:27,830,573...28,180,795 		JBrowse link
G KIAA0319L KIAA0319 like IAGP HPO ORPHA:536 NCBI chr 1:35,433,492...35,557,661
Ensembl chr 1:35,393,883...35,557,950 		JBrowse link
G LBR lamin B receptor IAGP HPO MIM:613471 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:740 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G LSM11 LSM11, U7 small nuclear RNA associated IAGP HPO ORPHA:51 NCBI chr 5:157,743,712...157,760,709
Ensembl chr 5:157,743,712...157,760,709 		JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP HPO ORPHA:536 NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103 		JBrowse link
G PDCD1 programmed cell death 1 IAGP HPO ORPHA:536 NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP HPO ORPHA:536 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G PXK PX domain containing serine/threonine kinase like IAGP HPO ORPHA:536 NCBI chr 3:58,332,892...58,426,127
Ensembl chr 3:58,332,880...58,426,127 		JBrowse link
G RNASEH2A ribonuclease H2 subunit A IAGP HPO ORPHA:51 NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640 		JBrowse link
G RNASEH2B ribonuclease H2 subunit B IAGP HPO ORPHA:51 NCBI chr13:50,909,678...50,970,460
Ensembl chr13:50,909,747...51,024,120 		JBrowse link
G RNASEH2C ribonuclease H2 subunit C IAGP HPO ORPHA:51 NCBI chr11:65,717,673...65,720,798
Ensembl chr11:65,714,005...65,720,818 		JBrowse link
G RNF125 ring finger protein 125 IAGP HPO MIM:616260 NCBI chr18:32,018,825...32,088,144
Ensembl chr18:32,018,825...32,088,144 		JBrowse link
G RNU7-1 RNA, U7 small nuclear 1 IAGP HPO ORPHA:51 NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878 		JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 IAGP HPO ORPHA:51 NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893 		JBrowse link
G SAT1 spermidine/spermine N1-acetyltransferase 1 IAGP HPO ORPHA:93552 NCBI chr  X:23,783,173...23,786,210
Ensembl chr  X:23,783,173...23,786,210 		JBrowse link
G SEC61A1 SEC61 translocon subunit alpha 1 IAGP HPO MIM:620670 NCBI chr 3:128,051,641...128,071,683
Ensembl chr 3:128,051,641...128,071,705 		JBrowse link
G SLC12A3 solute carrier family 12 member 3 IAGP HPO ORPHA:358 NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850 		JBrowse link
G SPP1 secreted phosphoprotein 1 IAGP HPO ORPHA:536 ORPHA:93552 NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP HPO ORPHA:536 ORPHA:93552 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435 		JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 IAGP HPO MIM:615934 NCBI chr 5:139,475,533...139,482,758
Ensembl chr 5:139,475,533...139,482,935 		JBrowse link
G TLR7 toll like receptor 7 IAGP HPO MIM:301080 ORPHA:536 NCBI chr  X:12,867,072...12,890,361
Ensembl chr  X:12,867,072...12,890,361 		JBrowse link
G TNFAIP3 TNF alpha induced protein 3 IAGP HPO ORPHA:536 NCBI chr 6:137,866,349...137,883,312
Ensembl chr 6:137,867,214...137,883,314 		JBrowse link
G TNFSF4 TNF superfamily member 4 IAGP HPO ORPHA:536 NCBI chr 1:173,172,870...173,450,733
Ensembl chr 1:173,162,645...173,477,583 		JBrowse link
G TNIP1 TNFAIP3 interacting protein 1 IAGP HPO ORPHA:536 NCBI chr 5:151,029,943...151,087,685
Ensembl chr 5:151,029,945...151,093,577 		JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO MIM:192315 MIM:610448 ORPHA:247691 ORPHA:51 ORPHA:536 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645 		JBrowse link
G UBE2L3 ubiquitin conjugating enzyme E2 L3 IAGP HPO ORPHA:536 NCBI chr22:21,549,447...21,624,034
Ensembl chr22:21,549,447...21,624,034 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO ORPHA:740 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		JBrowse link
Transient ischemic attack term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 IAGP HPO ORPHA:51608 ORPHA:758 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522 		JBrowse link
G ACTA2 actin alpha 2, smooth muscle IAGP HPO ORPHA:91387 NCBI chr10:88,935,074...88,991,337
Ensembl chr10:88,934,822...88,991,339 		JBrowse link
G ACTB actin beta IAGP HPO ORPHA:2995 NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902 		JBrowse link
G ACTC1 actin alpha cardiac muscle 1 IAGP HPO ORPHA:99103 NCBI chr15:34,790,230...34,795,549
Ensembl chr15:34,790,107...34,795,589 		JBrowse link
G ACTG1 actin gamma 1 IAGP HPO ORPHA:2995 NCBI chr17:81,509,971...81,512,799
Ensembl chr17:81,509,413...81,523,847 		JBrowse link
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 ADA2 adenosine deaminase 2 IAGP HPO ORPHA:820 NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235 		JBrowse link
G ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 IAGP HPO MIM:274150 NCBI chr 9:133,414,337...133,459,386
Ensembl chr 9:133,414,358...133,459,402 		JBrowse link
G ANGPTL6 angiopoietin like 6 IAGP HPO ORPHA:231160 NCBI chr19:10,092,338...10,106,190
Ensembl chr19:10,092,338...10,102,678 		JBrowse link
G ANO1 anoctamin 1 IAGP HPO MIM:620687 NCBI chr11:69,965,997...70,189,530
Ensembl chr11:69,985,907...70,189,530 		JBrowse link
G CALR calreticulin IAGP HPO ORPHA:3318 NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489 		JBrowse link
G CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 IAGP HPO ORPHA:99103 NCBI chr 6:139,371,807...139,374,648
Ensembl chr 6:139,371,807...139,374,648 		JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP HPO ORPHA:231160 ORPHA:286 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746 		JBrowse link
G ELN elastin IAGP HPO ORPHA:91387 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G ENG endoglin IAGP HPO MIM:187300 ORPHA:231160 ORPHA:774 NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO ORPHA:51608 ORPHA:758 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO ORPHA:91387 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FOXE3 forkhead box E3 IAGP HPO ORPHA:91387 NCBI chr 1:47,416,285...47,418,052
Ensembl chr 1:47,416,285...47,418,052 		JBrowse link
G GATA4 GATA binding protein 4 IAGP HPO ORPHA:99103 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 ORPHA:99103 NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528 		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 GLA galactosidase alpha IAGP HPO MIM:301500 ORPHA:324 NCBI chr  X:101,397,803...101,407,925
Ensembl chr  X:101,393,273...101,408,012 		JBrowse link
G HEY2 hes related family bHLH transcription factor with YRPW motif 2 IAGP HPO ORPHA:91387 NCBI chr 6:125,749,632...125,761,269
Ensembl chr 6:125,747,664...125,761,269 		JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP HPO ORPHA:3287 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G HTRA1 HtrA serine peptidase 1 IAGP HPO MIM:600142 MIM:616779 NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907 		JBrowse link
G IL12B interleukin 12B IAGP HPO ORPHA:3287 NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,863 		JBrowse link
G JAK2 Janus kinase 2 IAGP HPO ORPHA:3318 ORPHA:71493 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO MIM:600268 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:740 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G LOX lysyl oxidase IAGP HPO ORPHA:91387 NCBI chr 5:122,063,195...122,078,259
Ensembl chr 5:122,063,195...122,078,413 		JBrowse link
G MAT2A methionine adenosyltransferase 2A IAGP HPO ORPHA:91387 NCBI chr 2:85,539,168...85,545,281
Ensembl chr 2:85,539,168...85,545,281 		JBrowse link
G MFAP5 microfibril associated protein 5 IAGP HPO ORPHA:91387 NCBI chr12:8,645,943...8,662,826
Ensembl chr12:8,637,346...8,662,888 		JBrowse link
G MLX MAX dimerization protein MLX IAGP HPO ORPHA:3287 NCBI chr17:42,567,100...42,573,203
Ensembl chr17:42,567,072...42,573,239 		JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor IAGP HPO ORPHA:3318 ORPHA:71493 NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466 		JBrowse link
G MYBPC3 myosin binding protein C3 IAGP HPO MIM:115197 NCBI chr11:47,331,406...47,352,702
Ensembl chr11:47,331,406...47,352,702 		JBrowse link
G MYH11 myosin heavy chain 11 IAGP HPO ORPHA:91387 NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,858,438 		JBrowse link
G MYH6 myosin heavy chain 6 IAGP HPO ORPHA:99103 NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273 		JBrowse link
G MYLK myosin light chain kinase IAGP HPO ORPHA:91387 NCBI chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332 		JBrowse link
G NKX2-5 NK2 homeobox 5 IAGP HPO ORPHA:99103 NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311 		JBrowse link
G NOTCH3 notch receptor 3 IAGP ClinVar Annotator: match by term: Transient ischemic attack HPO
ClinVar		 PMID:9388399 PMID:10371548 PMID:10802804 PMID:10854111 PMID:11102981 More... ORPHA:136 NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995 		JBrowse link
G PRKG1 protein kinase cGMP-dependent 1 IAGP HPO ORPHA:91387 NCBI chr10:50,990,888...52,298,350
Ensembl chr10:50,990,888...52,298,423 		JBrowse link
G RNF213 ring finger protein 213 IAGP HPO MIM:607151 NCBI chr17:80,260,852...80,398,794
Ensembl chr17:80,260,852...80,398,794 		JBrowse link
G SH2B3 SH2B adaptor protein 3 IAGP HPO ORPHA:3318 NCBI chr12:111,404,730...111,451,623
Ensembl chr12:111,405,923...111,451,623 		JBrowse link
G SMAD2 SMAD family member 2 IAGP HPO MIM:619656 ORPHA:91387 NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146 		JBrowse link
G SMAD3 SMAD family member 3 IAGP HPO ORPHA:91387 NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173 		JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO ORPHA:774 ORPHA:91387 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G SMARCAL1 SNF2 related chromatin remodeling annealing helicase 1 IAGP HPO MIM:242900 ORPHA:1830 NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053 		JBrowse link
G SON SON DNA and RNA binding protein IAGP HPO ORPHA:500150 NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481 		JBrowse link
G TBX20 T-box transcription factor 20 IAGP HPO ORPHA:99103 NCBI chr 7:35,202,430...35,254,100
Ensembl chr 7:35,202,430...35,254,100 		JBrowse link
G TET2 tet methylcytosine dioxygenase 2 IAGP HPO ORPHA:3318 NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816 		JBrowse link
G TGFB2 transforming growth factor beta 2 IAGP HPO ORPHA:91387 NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619 		JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP HPO ORPHA:91387 NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP HPO ORPHA:91387 NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP HPO ORPHA:91387 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
G TGFBR3 transforming growth factor beta receptor 3 IAGP HPO ORPHA:231160 NCBI chr 1:91,680,343...91,906,002
Ensembl chr 1:91,680,343...91,906,335 		JBrowse link
G THPO thrombopoietin IAGP HPO ORPHA:71493 NCBI chr 3:184,371,935...184,379,688
Ensembl chr 3:184,371,935...184,381,968 		JBrowse link
G THSD1 thrombospondin type 1 domain containing 1 IAGP HPO ORPHA:231160 NCBI chr13:52,377,167...52,406,172
Ensembl chr13:52,377,167...52,416,373 		JBrowse link
G THSD4 thrombospondin type 1 domain containing 4 IAGP HPO ORPHA:91387 NCBI chr15:71,096,894...71,783,383
Ensembl chr15:71,096,952...71,783,383 		JBrowse link
G TLL1 tolloid like 1 IAGP HPO ORPHA:99103 NCBI chr 4:165,873,237...166,104,457
Ensembl chr 4:165,873,237...166,104,457 		JBrowse link
G TP53 tumor protein p53 IAGP HPO ORPHA:3318 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO ORPHA:740 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		JBrowse link
Weak pulse term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 IAGP HPO MIM:264800 ORPHA:51608 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO ORPHA:51608 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
G XYLT1 xylosyltransferase 1 IAGP HPO MIM:264800 NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960 		JBrowse link
G XYLT2 xylosyltransferase 2 IAGP HPO MIM:264800 NCBI chr17:50,346,126...50,361,185
Ensembl chr17:50,346,126...50,363,138 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 82305
    Phenotypic abnormality 81987
      Abnormality of the cardiovascular system 14368
        Abnormal cardiovascular system physiology 6483
          Abnormal vascular physiology 623
            Abnormal arterial physiology + 322
            Abnormal capillary physiology + 11
            Abnormal pulse pressure + 4
            Abnormality of pulmonary circulation + 346
            Abnormality of venous physiology + 13
paths to the root