Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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 coronary artery morphology
go back to main search page
Accession:HP:0006704 term browser browse the term
Definition:Any structural abnormality of the coronary arteries.
Synonyms:xref: Fyler:3100;   SNOMEDCT_US:28574005;   UMLS:C0158623


show annotations for term's descendants           Sort by:
Abnormal coronary artery morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADRB3 adrenoceptor beta 3 no_association IAGP DNA:missense mutation:cds:p.W64R (rs4994) RGD PMID:11229427 RGD:5684412 NCBI chr 8:37,962,990...37,966,599
Ensembl chr 8:37,962,990...37,966,599 		JBrowse link
G AMPD1 adenosine monophosphate deaminase 1 susceptibility IAGP DNA:SNP:exon 2:34C>T (human) RGD PMID:11028479 RGD:329349360 NCBI chr 1:114,673,098...114,695,546
Ensembl chr 1:114,673,090...114,695,618 		JBrowse link
G APOA4 apolipoprotein A4 susceptibility
no_association		 IAGP associated with Diabetes Mellitus, Type 2; DNA:missense mutation:cds:p.Q360H
DNA:mutation:intron:IVS2		 RGD PMID:7958503 PMID:10428310 RGD:5685678, RGD:1578442 NCBI chr11:116,820,700...116,823,304
Ensembl chr11:116,820,700...116,823,304 		JBrowse link
G CUBN cubilin susceptibility IAGP DNA:SNP:intron: (rs2291521)G>A (human) RGD PMID:33004870 RGD:329901841 NCBI chr10:16,823,966...17,129,811
Ensembl chr10:16,823,966...17,129,811 		JBrowse link
G H19 H19 imprinted maternally expressed transcript susceptibility IAGP RGD PMID:32454910 RGD:242905209 NCBI chr11:1,995,176...2,001,466
Ensembl chr11:1,995,166...2,004,552 		JBrowse link
G HNF1A HNF1 homeobox A susceptibility IAGP DNA:SNP:intron 1: (rs7310409) G>A (human)
DNA:SNP:intron: (rs55783344) C>T(human)		 RGD PMID:25202455 PMID:33004870 RGD:329901832, RGD:329901841 NCBI chr12:120,978,543...121,002,512
Ensembl chr12:120,978,543...121,002,512 		JBrowse link
G IRF8 interferon regulatory factor 8 susceptibility IAGP DNA:SNPs:intron 4, intron 2: (rs925994,rs10514610) (human) RGD PMID:23661672 RGD:329902076 NCBI chr16:85,899,162...85,922,609
Ensembl chr16:85,899,116...85,922,606 		JBrowse link
G LEFTY1 left-right determination factor 1 susceptibility IAGP DNA:SNP:cd: p.D322A T>G (rs360057) (human) RGD PMID:28728263 RGD:401794435 NCBI chr 1:225,886,282...225,889,146
Ensembl chr 1:225,886,282...225,911,382 		JBrowse link
G LIPC lipase C, hepatic type susceptibility IAGP DNA:SNP,haplotypes: (rs17269397)A>G (human) RGD PMID:33004870 RGD:329901841 NCBI chr15:58,431,991...58,569,844
Ensembl chr15:58,410,569...58,569,844 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility IAGP DNA:transition:cds:g.677C>T RGD PMID:12387655 RGD:6893453 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G NKX2-6 NK2 homeobox 6 IAGP HPO ORPHA:3384 NCBI chr 8:23,701,740...23,706,756
Ensembl chr 8:23,701,740...23,706,756 		JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 no_association IAGP DNA:missense mutations:cds:p.L125V, p.S563N
DNA:missense mutation:cds:p.R643G
DNA:missense mutation:cds:p.L125V 		RGD PMID:10571959 PMID:15488875 PMID:10780329 RGD:1598382, RGD:6771224, RGD:6771225 NCBI chr17:64,319,415...64,390,860
Ensembl chr17:64,319,415...64,413,776 		JBrowse link
G PLAT plasminogen activator, tissue type IAGP DNA:snp:enhancer:g.-7351C>T RGD PMID:11848437 RGD:1580881 NCBI chr 8:42,174,718...42,207,565
Ensembl chr 8:42,174,718...42,207,709 		JBrowse link
G PLXND1 plexin D1 IAGP HPO ORPHA:3384 NCBI chr 3:129,555,214...129,606,676
Ensembl chr 3:129,555,214...129,606,676 		JBrowse link
G RBP4 retinol binding protein 4 susceptibility IAGP DNA:SNP:intron: (rs7094671) (human) RGD PMID:25479076 RGD:329845882 NCBI chr10:93,591,694...93,601,744
Ensembl chr10:93,591,687...93,601,744 		JBrowse link
G SERPINE1 serpin family E member 1 susceptibility IAGP DNA:deletion:promoter:g.-676_-674delG RGD PMID:12477941 RGD:1626626 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247 		JBrowse link
G XRCC3 X-ray repair cross complementing 3 susceptibility IAGP DNA:SNP,haplotypes:exon 7: p.T241M (rs861539) (Human) RGD PMID:23368530 RGD:401827273 NCBI chr14:103,697,617...103,715,451
Ensembl chr14:103,697,609...103,715,504 		JBrowse link
Abnormal coronary artery course term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TKT transketolase IAGP HPO ORPHA:488618 NCBI chr 3:53,224,712...53,256,022
Ensembl chr 3:53,224,712...53,256,052 		JBrowse link
Abnormal coronary artery origin term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LZTR1 leucine zipper like post translational regulator 1 IAGP HPO OMIM:605275 NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032 		JBrowse link
Anomalous origin of coronary artery from the pulmonary artery term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC65 coiled-coil domain containing 65 IAGP ClinVar Annotator: match by term: Anomalous origin of coronary artery from the pulmonary artery ClinVar PMID:23991085 PMID:25741868 PMID:28492532 NCBI chr12:48,904,133...48,921,576
Ensembl chr12:48,904,110...48,931,840 		JBrowse link
G DNAH5 dynein axonemal heavy chain 5 IAGP ClinVar Annotator: match by term: Anomalous origin of coronary artery from the pulmonary artery ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:13,690,328...14,011,818
Ensembl chr 5:13,690,328...14,011,818 		JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP ClinVar Annotator: match by term: Anomalous origin of coronary artery from the pulmonary artery ClinVar PMID:23456818 PMID:25741868 PMID:26874042 PMID:28492532 PMID:29068549 More... NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863 		JBrowse link
Anomalous origin of left coronary artery from the pulmonary artery term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NADSYN1 NAD synthetase 1 IAGP HPO OMIM:618845 NCBI chr11:71,453,203...71,501,816
Ensembl chr11:71,453,109...71,524,107 		JBrowse link
Coronary artery aneurysm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG5 ATP binding cassette subfamily G member 5 IAGP HPO ORPHA:391665 NCBI chr 2:43,806,211...43,839,231
Ensembl chr 2:43,812,472...43,838,865 		JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 IAGP HPO ORPHA:391665 NCBI chr 2:43,838,971...43,882,988
Ensembl chr 2:43,831,942...43,882,988 		JBrowse link
G APOB apolipoprotein B IAGP HPO ORPHA:391665 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073 		JBrowse link
G LDLR low density lipoprotein receptor IAGP HPO ORPHA:391665 NCBI chr19:11,089,463...11,133,820
Ensembl chr19:11,089,418...11,133,820 		JBrowse link
G LDLRAP1 low density lipoprotein receptor adaptor protein 1 IAGP HPO ORPHA:391665 NCBI chr 1:25,543,606...25,590,400
Ensembl chr 1:25,543,606...25,568,886 		JBrowse link
G PCSK9 proprotein convertase subtilisin/kexin type 9 IAGP HPO ORPHA:391665 NCBI chr 1:55,039,548...55,064,852
Ensembl chr 1:55,039,447...55,064,852 		JBrowse link
G PRKG1 protein kinase cGMP-dependent 1 IAGP HPO OMIM:615436 NCBI chr10:50,990,888...52,298,350
Ensembl chr10:50,990,888...52,298,423 		JBrowse link
Coronary artery atherosclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 IAGP HPO OMIM:205400 NCBI chr 9:104,781,006...104,928,155
Ensembl chr 9:104,781,006...104,928,155 		JBrowse link
G ABCC6 ATP binding cassette subfamily C member 6 IAGP HPO OMIM:264800 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522 		JBrowse link
G ABCG5 ATP binding cassette subfamily G member 5 IAGP HPO ORPHA:391665 NCBI chr 2:43,806,211...43,839,231
Ensembl chr 2:43,812,472...43,838,865 		JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 IAGP HPO OMIM:210250 ORPHA:391665 NCBI chr 2:43,838,971...43,882,988
Ensembl chr 2:43,831,942...43,882,988 		JBrowse link
G ACTA2 actin alpha 2, smooth muscle IAGP HPO ORPHA:91387 NCBI chr10:88,935,074...88,991,337
Ensembl chr10:88,935,074...88,991,339 		JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing susceptibility IAGP DNA:SNP: (rs2241766) +45T>G(human) RGD PMID:27218147 RGD:329956419 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463 		JBrowse link
G APOA2 apolipoprotein A2 IAGP HPO OMIM:143890 NCBI chr 1:161,222,292...161,223,628
Ensembl chr 1:161,222,292...161,223,631 		JBrowse link
G APOB apolipoprotein B IAGP HPO OMIM:144010 ORPHA:391665 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073 		JBrowse link
G ARHGAP31 Rho GTPase activating protein 31 susceptibility IAGP associated with Nicotine addiction;DNA:SNP: (rs10934490) (human) RGD PMID:19706030 RGD:329970276 NCBI chr 3:119,294,383...119,420,714
Ensembl chr 3:119,294,383...119,420,714 		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 CELA2A chymotrypsin like elastase 2A IAGP ClinVar Annotator: match by term: Coronary artery disease ClinVar
HPO		 PMID:25741868 PMID:31358993 OMIM:618620 NCBI chr 1:15,456,732...15,472,091
Ensembl chr 1:15,456,728...15,472,091 		JBrowse link
G CETP cholesteryl ester transfer protein IAGP ClinVar Annotator: match by term: Coronary artery disease ClinVar PMID:14559957 PMID:17190939 PMID:20068209 PMID:25741868 PMID:28492532 NCBI chr16:56,961,950...56,983,845
Ensembl chr16:56,961,923...56,983,845 		JBrowse link
G CYP7A1 cytochrome P450 family 7 subfamily A member 1 IAGP HPO ORPHA:209902 NCBI chr 8:58,490,178...58,500,163
Ensembl chr 8:58,490,178...58,500,163 		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 EPHX2 epoxide hydrolase 2 IAGP HPO OMIM:143890 NCBI chr 8:27,491,143...27,548,626
Ensembl chr 8:27,490,781...27,545,564 		JBrowse link
G ESR1 estrogen receptor 1 IAGP HPO ORPHA:785 NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619 		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 GHR growth hormone receptor IAGP HPO OMIM:143890 NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878 		JBrowse link
G GP6 glycoprotein VI platelet exacerbates
treatment		 IAGP DNA:missense mutation:CDS:c.13254T>C
DNA:missense mutation:CDS:c.13254T>C (p.S219P)		 RGD PMID:15306180 PMID:17105818 RGD:401793750, RGD:401794440 NCBI chr19:55,013,705...55,038,264
Ensembl chr19:55,013,705...55,038,264 		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 HS3ST1 heparan sulfate-glucosamine 3-sulfotransferase 1 IAGP ClinVar Annotator: match by term: Coronary artery disease ClinVar PMID:15266341 PMID:15965027 PMID:16024819 PMID:16410828 PMID:17179217 More... NCBI chr 4:11,393,150...11,434,327
Ensembl chr 4:11,393,150...11,429,564 		JBrowse link
G KALRN kalirin RhoGEF kinase susceptibility
severity		 IAGP DNA:SNP:intron: (rs9289231) T>G (human)
associated with Nicotine addiction; DNA:SNPs:multiple
DNA:SNP:intron: (rs9289231) (human) 		RGD PMID:30483314 PMID:19706030 PMID:27218147 PMID:25316661 RGD:329955537, RGD:329970276, RGD:329956419, RGD:11076452 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 IAGP HPO OMIM:143890 ORPHA:391665 NCBI chr19:11,089,463...11,133,820
Ensembl chr19:11,089,418...11,133,820 		JBrowse link
G LDLRAP1 low density lipoprotein receptor adaptor protein 1 IAGP HPO ORPHA:391665 NCBI chr 1:25,543,606...25,590,400
Ensembl chr 1:25,543,606...25,568,886 		JBrowse link
G LEFTY2 left-right determination factor 2 susceptibility IAGP DNA:SNP:CDS1: g.C925A, p.P286L(rs2295418)(human) RGD PMID:25111179 RGD:401794428 NCBI chr 1:225,936,603...225,941,220
Ensembl chr 1:225,936,598...225,941,383 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:2348 ORPHA:280365 ORPHA:363618 ORPHA:79084 ORPHA:79474 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G LOX lysyl oxidase IAGP HPO OMIM:617168 ORPHA:91387 NCBI chr 5:122,063,195...122,078,259
Ensembl chr 5:122,063,195...122,078,413 		JBrowse link
G LRP6 LDL receptor related protein 6 IAGP ClinVar Annotator: match by term: Coronary artery disease ClinVar PMID:28492532 NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044 		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 MIA3 MIA SH3 domain ER export factor 3 IAGP ClinVar Annotator: match by term: Coronary artery disease ClinVar PMID:25741868 NCBI chr 1:222,618,097...222,668,007
Ensembl chr 1:222,618,097...222,668,007 		JBrowse link
G MLXIP MLX interacting protein susceptibility IAGP DNA:SNP:3'utr: (rs4758685) (human) RGD PMID:23840567 RGD:401794443 NCBI chr12:122,078,756...122,147,344
Ensembl chr12:122,078,756...122,147,344 		JBrowse link
G MLXIPL MLX interacting protein like susceptibility IAGP DNA:SNPs,haplotypes: (rs3812316) (human)
DNA:SNP:cds: G771C, Q241H (rs381231)
DNA:SNP:cds: C771G, H241Q		 RGD PMID:21726544 PMID:19571538 PMID:25179879 RGD:401794579, RGD:401794582, RGD:401794581 NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility IAGP DNA:SNPs: (rs1801133, rs4846049) (Human) RGD PMID:24315498 RGD:401850782 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G MYH11 myosin heavy chain 11 IAGP HPO OMIM:132900 ORPHA:229 ORPHA:91387 NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,857,028 		JBrowse link
G MYLIP myosin regulatory light chain interacting protein IAGP ClinVar Annotator: match by term: Coronary artery atherosclerosis ClinVar NCBI chr 6:16,129,086...16,163,887
Ensembl chr 6:16,129,086...16,148,248 		JBrowse link
G MYLK myosin light chain kinase susceptibility IAGP associated with Nicotine addiction; DNA:SNP: (rs16834817) HPO
RGD		 PMID:19706030 ORPHA:91387, RGD:329970276 NCBI chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332 		JBrowse link
G PCSK9 proprotein convertase subtilisin/kexin type 9 IAGP HPO ORPHA:391665 NCBI chr 1:55,039,548...55,064,852
Ensembl chr 1:55,039,447...55,064,852 		JBrowse link
G PHACTR1 phosphatase and actin regulator 1 sexual_dimorphism
susceptibility
no_association		 IAGP DNA:SNP:intron:g.12903725A>G (rs9349379)
DNA:SNP:exon: (rs4714955)
associated with type 2 diabetes mellitus;DNA:SNP:intron: (rs12526453)
DNA:SNP:intron 3: (rs12526453)
DNA:SNPs:intron: (rs9381439, rs9349379)
associated with familial hypercholesterolemia;DNA:SNP:intron: (rs12526453)		 RGD PMID:30777881 PMID:27066539 PMID:22152955 PMID:28287809 PMID:27893421 More... RGD:401851919, RGD:401901243, RGD:11055500, RGD:401901081, RGD:401900688, RGD:401900687 NCBI chr 6:12,716,767...13,287,837
Ensembl chr 6:12,716,312...13,290,446 		JBrowse link
G PNPLA2 patatin like phospholipase domain containing 2 IAGP HPO ORPHA:565612 NCBI chr11:818,914...825,573
Ensembl chr11:818,914...825,573 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma IAGP HPO ORPHA:79083 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356 		JBrowse link
G PPP1R17 protein phosphatase 1 regulatory subunit 17 IAGP HPO OMIM:143890 NCBI chr 7:31,687,215...31,708,455
Ensembl chr 7:31,687,215...31,708,455 		JBrowse link
G PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 IAGP ClinVar Annotator: match by term: Coronary artery disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:151,556,127...151,877,115
Ensembl chr 7:151,556,124...151,877,214 		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 PTPN1 protein tyrosine phosphatase non-receptor type 1 IAGP associated with type 2 diabetes mellitus;DNA:SNPs:multiple RGD PMID:16505227 RGD:401976387 NCBI chr20:50,510,383...50,585,241
Ensembl chr20:50,510,321...50,585,241 		JBrowse link
G PTPRD protein tyrosine phosphatase receptor type D IAGP DNA:SNP:intron: (rs10115782) RGD PMID:22216278 RGD:401976461 NCBI chr 9:8,314,246...10,613,002
Ensembl chr 9:8,314,246...10,613,002 		JBrowse link
G SELE selectin E IAGP ClinVar Annotator: match by term: Coronary artery disease ClinVar PMID:25741868 NCBI chr 1:169,722,640...169,734,079
Ensembl chr 1:169,722,640...169,764,705 		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 ClinVar Annotator: match by term: Coronary artery disease ClinVar
HPO		 PMID:25741868 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 SMPD1 sphingomyelin phosphodiesterase 1 IAGP HPO ORPHA:77293 NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998 		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 3:30,606,601...30,694,142 		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 XRCC1 X-ray repair cross complementing 1 onset IAGP DNA:polymorphism:: (rs1799782) (human) RGD PMID:24315498 RGD:401850782 NCBI chr19:43,543,311...43,575,527
Ensembl chr19:43,543,311...43,580,473 		JBrowse link
G XYLT1 xylosyltransferase 1 IAGP HPO OMIM: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 OMIM:264800 NCBI chr17:50,346,126...50,361,185
Ensembl chr17:50,346,126...50,363,138 		JBrowse link
G ZHX3 zinc fingers and homeoboxes 3 IAGP ClinVar Annotator: match by term: Coronary atherosclerosis ClinVar PMID:25741868 PMID:28492532 NCBI chr20:41,178,455...41,317,731
Ensembl chr20:41,178,448...41,317,731 		JBrowse link
G ZNF687 zinc finger protein 687 IAGP HPO OMIM:616833 NCBI chr 1:151,281,522...151,292,176
Ensembl chr 1:151,281,618...151,292,176 		JBrowse link
Coronary artery calcification 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 OMIM:614473 ORPHA:51608 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522 		JBrowse link
G CCR2 C-C motif chemokine receptor 2 susceptibility IAGP DNA:SNP:cds:p.V64I(human) RGD PMID:12426226 RGD:1581178 NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO OMIM:208000 ORPHA:51608 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
G HGD homogentisate 1,2-dioxygenase IAGP HPO OMIM:203500 ORPHA:56 NCBI chr 3:120,628,172...120,682,239
Ensembl chr 3:120,628,172...120,682,269 		JBrowse link
G NT5E 5'-nucleotidase ecto IAGP HPO OMIM:211800 ORPHA:289601 NCBI chr 6:85,450,083...85,495,784
Ensembl chr 6:85,449,584...85,495,791 		JBrowse link
G PHACTR1 phosphatase and actin regulator 1 IAGP DNA:SNP:intron:g.13011943A>G (rs9349379)
associated with type 2 diabetes mellitus;DNA:SNPs:intron: (rs9369640, rs9349379)
DNA:SNP:intron: (rs12526453)		 RGD PMID:23394302 PMID:34241534 PMID:26789557 PMID:23561647 RGD:11058683, RGD:401901247, RGD:11054804, RGD:11057923 NCBI chr 6:12,716,767...13,287,837
Ensembl chr 6:12,716,312...13,290,446 		JBrowse link
Coronary artery dissection term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO ORPHA:2614 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G PHACTR1 phosphatase and actin regulator 1 susceptibility IAGP DNA:SNP:exon: (rs9349379)
DNA:SNP:intron 3: (rs9349379)		 RGD PMID:33319763 PMID:32374345 PMID:32887874 RGD:401900725, RGD:401901252, RGD:401901175 NCBI chr 6:12,716,767...13,287,837
Ensembl chr 6:12,716,312...13,290,446 		JBrowse link
G PRKG1 protein kinase cGMP-dependent 1 IAGP HPO OMIM:615436 NCBI chr10:50,990,888...52,298,350
Ensembl chr10:50,990,888...52,298,423 		JBrowse link
Coronary artery fistula term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PPFIBP1 PPFIA binding protein 1 IAGP HPO OMIM:620024 NCBI chr12:27,524,206...27,695,564
Ensembl chr12:27,523,431...27,695,564 		JBrowse link
Coronary artery stenosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 IAGP HPO ORPHA:31150 NCBI chr 9:104,781,006...104,928,155
Ensembl chr 9:104,781,006...104,928,155 		JBrowse link
G APOA4 apolipoprotein A4 no_association IAGP DNA:missense mutation:cds:p.T347S RGD PMID:9013087 RGD:5685683 NCBI chr11:116,820,700...116,823,304
Ensembl chr11:116,820,700...116,823,304 		JBrowse link
G DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B IAGP HPO OMIM:615812 NCBI chr19:39,825,350...39,834,162
Ensembl chr19:39,825,350...39,834,201 		JBrowse link
G ELN elastin IAGP HPO OMIM:194050 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G MLXIPL MLX interacting protein like IAGP HPO OMIM:194050 NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543 		JBrowse link
G MMP1 matrix metallopeptidase 1 IAGP DNA:insertion, haplotype:promoter:g.-1607insG (rs799750) RGD PMID:17893005 RGD:7207049 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160 		JBrowse link
G MMP3 matrix metallopeptidase 3 IAGP DNA:insertion, haplotype:promoter:g.-1613insA (rs3025058) RGD PMID:17893005 RGD:7207049 NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609 		JBrowse link
G NOS3 nitric oxide synthase 3 IAGP DNA:duplication:intron:IVS4?-?+27 RGD PMID:8564837 RGD:7421529 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588 		JBrowse link
G PARL presenilin associated rhomboid like susceptibility IAGP DNA:missense mutation:cds:p.L262V RGD PMID:18758826 RGD:12902623 NCBI chr 3:183,826,489...183,884,880
Ensembl chr 3:183,829,271...183,884,933 		JBrowse link
G PHACTR1 phosphatase and actin regulator 1 susceptibility IAGP DNA:SNP::g.13011943A>G (rs9349379) RGD PMID:22745674 RGD:401900726 NCBI chr 6:12,716,767...13,287,837
Ensembl chr 6:12,716,312...13,290,446 		JBrowse link
G PNPLA2 patatin like phospholipase domain containing 2 IAGP HPO ORPHA:565612 NCBI chr11:818,914...825,573
Ensembl chr11:818,914...825,573 		JBrowse link
G YY1AP1 YY1 associated protein 1 IAGP HPO OMIM:602531 NCBI chr 1:155,659,442...155,688,996
Ensembl chr 1:155,659,443...155,689,000 		JBrowse link
Coronary-pulmonary artery fistula term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANAPC7 anaphase promoting complex subunit 7 IAGP HPO OMIM:619699 NCBI chr12:110,372,900...110,403,708
Ensembl chr12:110,372,900...110,403,730 		JBrowse link
Intimal thickening in the coronary arteries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLB1 galactosidase beta 1 IAGP HPO OMIM:253010 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202 		JBrowse link
Post-angioplasty coronary artery restenosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KAT2B lysine acetyltransferase 2B severity IAGP DNA:snp:promoter:g.-2481G>C RGD PMID:21062767 RGD:9590309 NCBI chr 3:20,040,446...20,154,404
Ensembl chr 3:20,040,446...20,154,404 		JBrowse link
G SERPIND1 serpin family D member 1 IAGP HPO OMIM:612356 NCBI chr22:20,774,113...20,787,720
Ensembl chr22:20,774,113...20,787,720 		JBrowse link
Premature coronary artery atherosclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 IAGP HPO OMIM:604091 ORPHA:425 NCBI chr 9:104,781,006...104,928,155
Ensembl chr 9:104,781,006...104,928,155 		JBrowse link
G ABCG5 ATP binding cassette subfamily G member 5 IAGP HPO OMIM:618666 ORPHA:391665 NCBI chr 2:43,806,211...43,839,231
Ensembl chr 2:43,812,472...43,838,865 		JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 IAGP ClinVar Annotator: match by term: Premature coronary artery atherosclerosis HPO
ClinVar		 PMID:25741868 ORPHA:391665 NCBI chr 2:43,838,971...43,882,988
Ensembl chr 2:43,831,942...43,882,988 		JBrowse link
G ACTA2 actin alpha 2, smooth muscle IAGP HPO OMIM:611788 NCBI chr10:88,935,074...88,991,337
Ensembl chr10:88,935,074...88,991,339 		JBrowse link
G APOA1 apolipoprotein A1 IAGP HPO OMIM:618463 ORPHA:425 NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622 		JBrowse link
G APOB apolipoprotein B IAGP HPO ORPHA:391665 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073 		JBrowse link
G APOE apolipoprotein E IAGP HPO ORPHA:412 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		JBrowse link
G CD36 CD36 molecule (CD36 blood group) IAGP ClinVar Annotator: match by term: Premature coronary artery atherosclerosis ClinVar PMID:25741868 NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277 		JBrowse link
G CEP19 centrosomal protein 19 IAGP HPO OMIM:615703 NCBI chr 3:196,706,277...196,712,250
Ensembl chr 3:196,706,277...196,712,250 		JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 IAGP ClinVar Annotator: match by term: Premature coronary artery atherosclerosis HPO
ClinVar		 PMID:25741868 PMID:28492532 ORPHA:909 NCBI chr 2:218,782,147...218,815,293
Ensembl chr 2:218,781,749...218,815,293 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO ORPHA:90324 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit IAGP HPO ORPHA:90324 NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073 		JBrowse link
G GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 IAGP HPO OMIM:615947 NCBI chr 8:143,213,218...143,217,170
Ensembl chr 8:143,213,218...143,217,170 		JBrowse link
G LDLR low density lipoprotein receptor IAGP HPO ORPHA:391665 NCBI chr19:11,089,463...11,133,820
Ensembl chr19:11,089,418...11,133,820 		JBrowse link
G LDLRAP1 low density lipoprotein receptor adaptor protein 1 IAGP HPO ORPHA:391665 NCBI chr 1:25,543,606...25,590,400
Ensembl chr 1:25,543,606...25,568,886 		JBrowse link
G LIPC lipase C, hepatic type IAGP HPO ORPHA:140905 NCBI chr15:58,431,991...58,569,844
Ensembl chr15:58,410,569...58,569,844 		JBrowse link
G LMNA lamin A/C IAGP HPO OMIM:176670 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G LRP6 LDL receptor related protein 6 IAGP HPO OMIM:610947 NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044 		JBrowse link
G MEF2A myocyte enhancer factor 2A IAGP HPO OMIM:608320 NCBI chr15:99,565,417...99,716,488
Ensembl chr15:99,565,417...99,716,488 		JBrowse link
G PCSK9 proprotein convertase subtilisin/kexin type 9 IAGP HPO ORPHA:391665 NCBI chr 1:55,039,548...55,064,852
Ensembl chr 1:55,039,447...55,064,852 		JBrowse link
G PHACTR1 phosphatase and actin regulator 1 susceptibility IAGP DNA:SNP:intron:g.12903957A>G (rs9349379) RGD PMID:27517945 RGD:401900135 NCBI chr 6:12,716,767...13,287,837
Ensembl chr 6:12,716,312...13,290,446 		JBrowse link
G PIK3C2G phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma IAGP ClinVar Annotator: match by term: Premature coronary artery atherosclerosis ClinVar PMID:25741868 NCBI chr12:18,242,961...18,726,817
Ensembl chr12:18,242,961...18,648,416 		JBrowse link
G RYR2 ryanodine receptor 2 IAGP ClinVar Annotator: match by term: Premature coronary artery atherosclerosis ClinVar PMID:25741868 NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988 		JBrowse link
G SELP selectin P IAGP ClinVar Annotator: match by term: Premature coronary artery disease ClinVar NCBI chr 1:169,588,849...169,630,124
Ensembl chr 1:169,588,849...169,630,193 		JBrowse link
G ZFYVE21 zinc finger FYVE-type containing 21 IAGP ClinVar Annotator: match by term: Premature coronary artery atherosclerosis ClinVar PMID:25741868 NCBI chr14:103,715,810...103,733,664
Ensembl chr14:103,715,730...103,733,668 		JBrowse link
Single coronary artery origin term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CIROP ciliated left-right organizer metallopeptidase IAGP HPO OMIM:619702 NCBI chr14:23,099,062...23,104,989
Ensembl chr14:23,099,062...23,104,989 		JBrowse link
G NKX2-6 NK2 homeobox 6 IAGP HPO ORPHA:3384 NCBI chr 8:23,701,740...23,706,756
Ensembl chr 8:23,701,740...23,706,756 		JBrowse link
G PLXND1 plexin D1 IAGP HPO ORPHA:3384 NCBI chr 3:129,555,214...129,606,676
Ensembl chr 3:129,555,214...129,606,676 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of the cardiovascular system 3962
        Abnormal cardiovascular system morphology 2325
          Abnormal vascular morphology 1316
            Abnormal blood vessel morphology 1099
              Abnormal systemic arterial morphology 626
                Abnormal coronary artery morphology 116
                  Abnormal coronary artery course + 3
                  Abnormal coronary artery origin + 8
                  Coronary artery aneurysm 7
                  Coronary artery atherosclerosis + 78
                  Coronary artery calcification 6
                  Coronary artery dissection 3
                  Coronary artery stenosis 14
                  Granulomatous coronary arteritis 0
                  Intimal thickening in the coronary arteries 1
paths to the root