Term: Coronary artery atherosclerosis
Accession: HP:0001677
browse the term
Definition: Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia.
Comment: Coronary artery disease, also called atherosclerotic heart disease, is the result of atheromatous plaques within the coronary arteries leading to myocardial ischemia and infarction.
Synonyms: exact_synonym: Coronary atherosclerosis; Coronary disease; Plaque build-up in arteries supplying blood to heart
narrow_synonym: coronary artery disease
alt_id: HP:0004929; HP:0005138
xref: EFO:0001645 ; SNOMEDCT_US:414024009; SNOMEDCT_US:53741008; UMLS:C1956346
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ABCA1
ATP binding cassette subfamily A member 1
IAGP
HPO
MIM:205400
NCBI chr 9:104,781,006...104,928,155
Ensembl chr 9:104,781,006...104,928,155
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ABCC6
ATP binding cassette subfamily C member 6
IAGP
HPO
MIM:264800
NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
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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
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ABCG8
ATP binding cassette subfamily G member 8
IAGP
HPO
MIM:210250 ORPHA:391665
NCBI chr 2:43,838,971...43,882,988
Ensembl chr 2:43,831,942...43,882,988
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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
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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
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APOA2
apolipoprotein A2
IAGP
HPO
MIM:143890
NCBI chr 1:161,222,292...161,223,628
Ensembl chr 1:161,222,290...161,223,631
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APOB
apolipoprotein B
IAGP
HPO
MIM:144010 ORPHA:391665
NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
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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
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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
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CELA2A
chymotrypsin like elastase 2A
IAGP
ClinVar Annotator: match by term: Coronary artery disease
ClinVar HPO
PMID:25741868 PMID:31358993
MIM:618620
NCBI chr 1:15,456,732...15,472,091
Ensembl chr 1:15,456,728...15,472,091
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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
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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
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ELN
elastin
IAGP
HPO
ORPHA:91387
NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
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EPHX2
epoxide hydrolase 2
IAGP
HPO
MIM:143890
NCBI chr 8:27,491,143...27,548,626
Ensembl chr 8:27,490,781...27,545,564
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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
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FBN1
fibrillin 1
IAGP
HPO
ORPHA:91387
NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
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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
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GHR
growth hormone receptor
IAGP
HPO
MIM:143890
NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878
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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
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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
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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 PMID:17558387 PMID:17568005 PMID:19122651 PMID:19303047 PMID:19858363 PMID:21152010 PMID:22090374 PMID:28126521 More...
NCBI chr 4:11,393,150...11,434,327
Ensembl chr 4:11,393,150...11,429,564
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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
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LDLR
low density lipoprotein receptor
IAGP
HPO
MIM:143890 ORPHA:391665
NCBI chr19:11,089,463...11,133,820
Ensembl chr19:11,089,418...11,133,820
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LDLRAP1
low density lipoprotein receptor adaptor protein 1
IAGP
HPO
ORPHA:391665
NCBI chr 1:25,543,606...25,590,400
Ensembl chr 1:25,543,604...25,591,200
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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
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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 1:156,082,572...156,140,081
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LOX
lysyl oxidase
IAGP
HPO
MIM:617168 ORPHA:91387
NCBI chr 5:122,063,195...122,078,259
Ensembl chr 5:122,063,195...122,078,413
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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
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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
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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
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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
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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
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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
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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
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MYH11
myosin heavy chain 11
IAGP
HPO
MIM:132900 ORPHA:229 ORPHA:91387
NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,858,438
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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
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PCSK9
proprotein convertase subtilisin/kexin type 9
IAGP
HPO
ORPHA:391665
NCBI chr 1:55,039,548...55,064,852
Ensembl chr 1:55,039,445...55,064,852
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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 PMID:29784573 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
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PNPLA2
patatin like phospholipase domain containing 2
IAGP
HPO
ORPHA:565612
NCBI chr11:818,914...825,573
Ensembl chr11:818,914...825,573
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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
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PPP1R17
protein phosphatase 1 regulatory subunit 17
IAGP
HPO
MIM:143890
NCBI chr 7:31,687,215...31,708,455
Ensembl chr 7:31,687,215...31,708,455
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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
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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
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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
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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
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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
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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
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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
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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
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SMPD1
sphingomyelin phosphodiesterase 1
IAGP
HPO
ORPHA:77293
NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998
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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
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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
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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
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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
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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
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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
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XYLT1
xylosyltransferase 1
IAGP
HPO
MIM:264800
NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960
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XYLT2
xylosyltransferase 2
IAGP
HPO
MIM:264800
NCBI chr17:50,346,126...50,361,185
Ensembl chr17:50,346,126...50,363,138
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ZNF687
zinc finger protein 687
IAGP
HPO
MIM:616833
NCBI chr 1:151,281,522...151,292,176
Ensembl chr 1:151,281,618...151,292,176
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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
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SERPIND1
serpin family D member 1
IAGP
HPO
MIM:612356
NCBI chr22:20,774,113...20,787,720
Ensembl chr22:20,774,113...20,787,720
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ABCA1
ATP binding cassette subfamily A member 1
IAGP
HPO
MIM:604091 ORPHA:425
NCBI chr 9:104,781,006...104,928,155
Ensembl chr 9:104,781,006...104,928,155
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ABCG5
ATP binding cassette subfamily G member 5
IAGP
HPO
MIM:618666 ORPHA:2882 ORPHA:391665
NCBI chr 2:43,806,211...43,839,231
Ensembl chr 2:43,812,472...43,838,865
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ABCG8
ATP binding cassette subfamily G member 8
IAGP
ClinVar Annotator: match by term: Premature coronary artery atherosclerosis
HPO ClinVar
PMID:25741868
ORPHA:2882 ORPHA:391665
NCBI chr 2:43,838,971...43,882,988
Ensembl chr 2:43,831,942...43,882,988
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ACTA2
actin alpha 2, smooth muscle
IAGP
HPO
MIM:611788
NCBI chr10:88,935,074...88,991,337
Ensembl chr10:88,934,822...88,991,339
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APOA1
apolipoprotein A1
IAGP
HPO
MIM:618463 ORPHA:425
NCBI chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622
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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
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APOE
apolipoprotein E
IAGP
HPO
ORPHA:412
NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
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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
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CEP19
centrosomal protein 19
IAGP
HPO
MIM:615703
NCBI chr 3:196,706,277...196,712,250
Ensembl chr 3:196,706,277...196,712,250
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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
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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
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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
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GPIHBP1
glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1
IAGP
HPO
MIM:615947
NCBI chr 8:143,213,218...143,217,170
Ensembl chr 8:143,213,218...143,217,170
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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
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LDLRAP1
low density lipoprotein receptor adaptor protein 1
IAGP
HPO
ORPHA:391665
NCBI chr 1:25,543,606...25,590,400
Ensembl chr 1:25,543,604...25,591,200
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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
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LMNA
lamin A/C
IAGP
HPO
MIM:151660 MIM:176670
NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
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LRP6
LDL receptor related protein 6
IAGP
HPO
MIM:610947
NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044
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MEF2A
myocyte enhancer factor 2A
IAGP
HPO
MIM:608320
NCBI chr15:99,565,417...99,716,488
Ensembl chr15:99,565,417...99,716,488
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PCSK9
proprotein convertase subtilisin/kexin type 9
IAGP
HPO
ORPHA:391665
NCBI chr 1:55,039,548...55,064,852
Ensembl chr 1:55,039,445...55,064,852
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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
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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
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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
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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
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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
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