PedAM

Pediatric Disease Annotations & Medicines


	thoracic aortic aneurysm

Disease ID	229
Disease	thoracic aortic aneurysm
Definition	An abnormal balloon- or sac-like dilatation in the wall of the THORACIC AORTA. This proximal descending portion of aorta gives rise to the visceral and the parietal branches above the aortic hiatus at the diaphragm.
Synonym	aneurysm aortic thoracic aneurysm of thoracic aorta aneurysm of thoracic aorta (disorder) aneurysm thoracic aneurysm, aorta, thoracic aneurysm, thoracic aneurysm, thoracic aortic aneurysms thoracic aortic aneurysm, thoracic aortic aneurysm, thoracic [disease/finding] aortic aneurysms, thoracic aortic thoracic aneurysm thoracic aneurysm thoracic aorta aneurysm thoracic aortic aneurysm (disorder) thoracic aortic aneurysms
OMIM	OMIM:607086
DOID	DOID:14004
UMLS	C0162872
MeSH	D017545
SNOMED-CT	SNOMEDCT_US_2016_09_01:433068007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:25) C0007766 \| cranial aneurysm \| 2 C0162871 \| abdominal aortic aneurysm \| 2 C0007766 \| intracranial aneurysm \| 2 C0040053 \| thrombus \| 2 C0024796 \| marfan syndrome \| 2 C0039128 \| syphilis \| 1 C0024141 \| systemic lupus erythematosus \| 1 C0010068 \| coronary artery disease \| 1 C0039263 \| takayasu arteritis \| 1 C0162871 \| abdominal aortic aneurysms \| 1 C0007766 \| intracranial aneurysms \| 1 C0032285 \| pneumoniae \| 1 C0152021 \| congenital heart disease \| 1 C0004943 \| behcet's disease \| 1 C0043194 \| wiskott-aldrich syndrome \| 1 C0409974 \| lupus erythematosus \| 1 C0010495 \| cutis laxa \| 1 C0035078 \| renal failure \| 1 C0040583 \| tracheal stenosis \| 1 C2697932 \| loeys-dietz syndrome \| 1 C0040053 \| thrombosis \| 1 C0003504 \| aortic regurgitation \| 1 C0042769 \| virus infection \| 1 C0030567 \| parkinson's disease \| 1 C0018799 \| heart disease \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:11) SMAD3 \| 4088 \| GHR MMP9 \| 4318 \| CTD_human MYH11 \| 4629 \| GHR FBN1 \| 2200 \| CTD_human;GHR ACTA2 \| 59 \| CTD_human;GHR TGFB2 \| 7042 \| CTD_human TGFBR2 \| 7048 \| CTD_human;GHR MMP2 \| 4313 \| CTD_human PRKG1 \| 5592 \| GHR TGFBR1 \| 7046 \| GHR MYLK \| 4638 \| GHR
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 2200 \| FBN1 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:101) 8086 \| AAAS \| DISEASES 7049 \| TGFBR3 \| DISEASES 191 \| AHCY \| DISEASES 7076 \| TIMP1 \| DISEASES 4313 \| MMP2 \| DISEASES 3972 \| LHB \| DISEASES 59 \| ACTA2 \| DISEASES 1277 \| COL1A1 \| DISEASES 8050 \| PDHX \| DISEASES 4015 \| LOX \| DISEASES 4317 \| MMP8 \| DISEASES 6431 \| SRSF6 \| DISEASES 54567 \| DLL4 \| DISEASES 2006 \| ELN \| DISEASES 8220 \| DGCR14 \| DISEASES 1401 \| CRP \| DISEASES 6272 \| SORT1 \| DISEASES 153090 \| DAB2IP \| DISEASES 4322 \| MMP13 \| DISEASES 27190 \| IL17B \| DISEASES 4087 \| SMAD2 \| DISEASES 2201 \| FBN2 \| DISEASES 7077 \| TIMP2 \| DISEASES 3783 \| KCNN4 \| DISEASES 8540 \| AGPS \| DISEASES 6722 \| SRF \| DISEASES 7078 \| TIMP3 \| DISEASES 4240 \| MFGE8 \| DISEASES 112483 \| SAT2 \| DISEASES 81794 \| ADAMTS10 \| DISEASES 3930 \| LBR \| DISEASES 185 \| AGTR1 \| DISEASES 2169 \| FABP2 \| DISEASES 170690 \| ADAMTS16 \| DISEASES 23092 \| ARHGAP26 \| DISEASES 4851 \| NOTCH1 \| DISEASES 9510 \| ADAMTS1 \| DISEASES 11096 \| ADAMTS5 \| DISEASES 7079 \| TIMP4 \| DISEASES 340348 \| TSPAN33 \| DISEASES 1636 \| ACE \| DISEASES 8209 \| C21orf33 \| DISEASES 5130 \| PCYT1A \| DISEASES 1278 \| COL1A2 \| DISEASES 5267 \| SERPINA4 \| DISEASES 4314 \| MMP3 \| DISEASES 1281 \| COL3A1 \| DISEASES 4323 \| MMP14 \| DISEASES 5340 \| PLG \| DISEASES 572 \| BAD \| DISEASES 30008 \| EFEMP2 \| DISEASES 112 \| ADCY6 \| DISEASES 8425 \| LTBP4 \| DISEASES 4312 \| MMP1 \| DISEASES 57674 \| RNF213 \| DISEASES 2200 \| FBN1 \| DISEASES 1485 \| CTAG1B \| DISEASES 4088 \| SMAD3 \| DISEASES 342184 \| FMN1 \| DISEASES 468 \| ATF4 \| DISEASES 219541 \| MED19 \| DISEASES 4089 \| SMAD4 \| DISEASES 1003 \| CDH5 \| DISEASES 6525 \| SMTN \| DISEASES 7048 \| TGFBR2 \| DISEASES 81031 \| SLC2A10 \| DISEASES 8076 \| MFAP5 \| DISEASES 51150 \| SDF4 \| DISEASES 4638 \| MYLK \| DISEASES 4326 \| MMP17 \| DISEASES 7058 \| THBS2 \| DISEASES 7042 \| TGFB2 \| DISEASES 5287 \| PIK3C2B \| DISEASES 1490 \| CTGF \| DISEASES 6283 \| S100A12 \| DISEASES 100272147 \| CMC4 \| DISEASES 2316 \| FLNA \| DISEASES 1289 \| COL5A1 \| DISEASES 11093 \| ADAMTS13 \| DISEASES 4318 \| MMP9 \| DISEASES 5592 \| PRKG1 \| DISEASES 1290 \| COL5A2 \| DISEASES 7046 \| TGFBR1 \| DISEASES 1306 \| COL15A1 \| DISEASES 92949 \| ADAMTSL1 \| DISEASES 2835 \| GPR12 \| DISEASES 10411 \| RAPGEF3 \| DISEASES 7021 \| TFAP2B \| DISEASES 64400 \| AKTIP \| DISEASES 6696 \| SPP1 \| DISEASES 4629 \| MYH11 \| DISEASES 11069 \| RAPGEF4 \| DISEASES 79659 \| DYNC2H1 \| DISEASES 4052 \| LTBP1 \| DISEASES 50863 \| NTM \| DISEASES 93649 \| MYOCD \| DISEASES 7148 \| TNXB \| DISEASES 5270 \| SERPINE2 \| DISEASES 149466 \| C1orf210 \| DISEASES 84033 \| OBSCN \| DISEASES 100506195 \| LARGE-AS1 \| DISEASES
Locus	(Waiting for update.)

Disease ID	229
Disease	thoracic aortic aneurysm
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:18) HP:0001647 \| Bicuspid aortic valve \| 8 HP:0002647 \| Aortic dissection \| 6 HP:0012020 \| Right aortic arch \| 3 HP:0004944 \| Cerebral artery aneurysm \| 2 HP:0004953 \| Abdominal aortic aneurysm \| 2 HP:0011593 \| Kommerell diverticulum \| 2 HP:0001659 \| Aortic insufficiency \| 1 HP:0002721 \| Immunodeficiency \| 1 HP:0000083 \| Renal insufficiency \| 1 HP:0001677 \| Coronary artery disease \| 1 HP:0005295 \| Pseudocoarctation of the aorta \| 1 HP:0001636 \| Tetrology of fallot \| 1 HP:0001945 \| Fever \| 1 HP:0000973 \| Dermatomegaly \| 1 HP:0002015 \| Swallowing difficulty \| 1 HP:0002725 \| Systemic lupus erythematosus \| 1 HP:0001680 \| Coarctation of aorta \| 1 HP:0002777 \| Tracheal stenosis \| 1

Disease ID	229
Disease	thoracic aortic aneurysm
Manually Symptom	UMLS \| Name(Total Manually Symptoms:12) C1550639 \| fistula C1393529 \| vascular complications C1322286 \| thymic carcinoma C0684249 \| lung cancer C0542142 \| recurrent laryngeal nerve paralysis C0302148 \| thrombus C0281839 \| esophageal rupture C0264971 \| gastroepiploic artery aneurysm C0262576 \| nerve paralysis C0085652 \| pyoderma gangrenosum C0014860 \| esophageal perforation C0004153 \| atherosclerosis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0016169 \| fistula \| 3 C0040053 \| thrombus \| 2

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:42)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1036476	21909107	2200	FBN1	umls:C0162872	GAD	[Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1.]	0.127177041	2011	FBN1	15	48622578	T	C
rs1042713	25171434	154	ADRB2	umls:C0162872	BeFree	We genotyped β2-adrenergic receptor (ADRB2) (Arg16Gly and Gln27Glu), cytochrome P450 3A4 (rs2246709, rs4646437), and uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) (rs4148323 [allele A, 6], rs12479045, rs4148328, rs4663971, rs12052787, rs4148329, A (TA)6/7 TAA [seven-repeat allele, 28]).	0.000271442	2015	ADRB2	5	148826877	G	A
rs1042713	25171434	1576	CYP3A4	umls:C0162872	BeFree	We genotyped β2-adrenergic receptor (ADRB2) (Arg16Gly and Gln27Glu), cytochrome P450 3A4 (rs2246709, rs4646437), and uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) (rs4148323 [allele A, 6], rs12479045, rs4148328, rs4663971, rs12052787, rs4148329, A (TA)6/7 TAA [seven-repeat allele, 28]).	0.000271442	2015	ADRB2	5	148826877	G	A
rs1042714	25171434	154	ADRB2	umls:C0162872	BeFree	We genotyped β2-adrenergic receptor (ADRB2) (Arg16Gly and Gln27Glu), cytochrome P450 3A4 (rs2246709, rs4646437), and uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) (rs4148323 [allele A, 6], rs12479045, rs4148328, rs4663971, rs12052787, rs4148329, A (TA)6/7 TAA [seven-repeat allele, 28]).	0.000271442	2015	ADRB2	5	148826910	G	C,T
rs1042714	25171434	1576	CYP3A4	umls:C0162872	BeFree	We genotyped β2-adrenergic receptor (ADRB2) (Arg16Gly and Gln27Glu), cytochrome P450 3A4 (rs2246709, rs4646437), and uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) (rs4148323 [allele A, 6], rs12479045, rs4148328, rs4663971, rs12052787, rs4148329, A (TA)6/7 TAA [seven-repeat allele, 28]).	0.000271442	2015	ADRB2	5	148826910	G	C,T
rs12052787	25171434	1576	CYP3A4	umls:C0162872	BeFree	We genotyped β2-adrenergic receptor (ADRB2) (Arg16Gly and Gln27Glu), cytochrome P450 3A4 (rs2246709, rs4646437), and uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) (rs4148323 [allele A, 6], rs12479045, rs4148328, rs4663971, rs12052787, rs4148329, A (TA)6/7 TAA [seven-repeat allele, 28]).	0.000271442	2015	UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A3	2	233757935	C	T
rs12052787	25171434	154	ADRB2	umls:C0162872	BeFree	We genotyped β2-adrenergic receptor (ADRB2) (Arg16Gly and Gln27Glu), cytochrome P450 3A4 (rs2246709, rs4646437), and uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) (rs4148323 [allele A, 6], rs12479045, rs4148328, rs4663971, rs12052787, rs4148329, A (TA)6/7 TAA [seven-repeat allele, 28]).	0.000271442	2015	UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A3	2	233757935	C	T
rs12479045	25171434	154	ADRB2	umls:C0162872	BeFree	We genotyped β2-adrenergic receptor (ADRB2) (Arg16Gly and Gln27Glu), cytochrome P450 3A4 (rs2246709, rs4646437), and uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) (rs4148323 [allele A, 6], rs12479045, rs4148328, rs4663971, rs12052787, rs4148329, A (TA)6/7 TAA [seven-repeat allele, 28]).	0.000271442	2015	UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3	2	233764942	G	A,C
rs12479045	25171434	1576	CYP3A4	umls:C0162872	BeFree	We genotyped β2-adrenergic receptor (ADRB2) (Arg16Gly and Gln27Glu), cytochrome P450 3A4 (rs2246709, rs4646437), and uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) (rs4148323 [allele A, 6], rs12479045, rs4148328, rs4663971, rs12052787, rs4148329, A (TA)6/7 TAA [seven-repeat allele, 28]).	0.000271442	2015	UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3	2	233764942	G	A,C
rs17718511	21087323	11005	SPINK5	umls:C0162872	BeFree	We also found that four SNPs [rs17718511 (P = 0.033), rs17860502 (P = 0.031), rs60978485 (P = 0.005), rs17718737 (P = 0.023)] and the haplotype TAA (P = 0.02) in the SPINK5 gene showed associations with the susceptibility of the allergic type of AD (ADe).	0.000271442	2010	SPINK5	5	148072009	A	G
rs17718737	21087323	11005	SPINK5	umls:C0162872	BeFree	We also found that four SNPs [rs17718511 (P = 0.033), rs17860502 (P = 0.031), rs60978485 (P = 0.005), rs17718737 (P = 0.023)] and the haplotype TAA (P = 0.02) in the SPINK5 gene showed associations with the susceptibility of the allergic type of AD (ADe).	0.000271442	2010	SPINK5	5	148112898	T	C
rs17860502	21087323	11005	SPINK5	umls:C0162872	BeFree	We also found that four SNPs [rs17718511 (P = 0.033), rs17860502 (P = 0.031), rs60978485 (P = 0.005), rs17718737 (P = 0.023)] and the haplotype TAA (P = 0.02) in the SPINK5 gene showed associations with the susceptibility of the allergic type of AD (ADe).	0.000271442	2010	SPINK5	5	148086438	G	A
rs1799752	25120286	4313	MMP2	umls:C0162872	BeFree	Interestingly, the rs4986790 TLR4 polymorphism confers a higher susceptibility for sporadic TAA (OR = 14.4, P = 0.0008) and it represents, together with rs1799752 ACE, rs3918242 MMP-9, and rs2285053 MMP-2 SNPs, an independent sporadic TAA risk factor.	0.200814326	2014	ACE	17	63488529	-	ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC,G
rs1799752	25120286	4318	MMP9	umls:C0162872	BeFree	Interestingly, the rs4986790 TLR4 polymorphism confers a higher susceptibility for sporadic TAA (OR = 14.4, P = 0.0008) and it represents, together with rs1799752 ACE, rs3918242 MMP-9, and rs2285053 MMP-2 SNPs, an independent sporadic TAA risk factor.	0.200814326	2014	ACE	17	63488529	-	ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC,G
rs1799752	25120286	1636	ACE	umls:C0162872	BeFree	Interestingly, the rs4986790 TLR4 polymorphism confers a higher susceptibility for sporadic TAA (OR = 14.4, P = 0.0008) and it represents, together with rs1799752 ACE, rs3918242 MMP-9, and rs2285053 MMP-2 SNPs, an independent sporadic TAA risk factor.	0.000814326	2014	ACE	17	63488529	-	ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC,G
rs1799971	19018716	4988	OPRM1	umls:C0162872	BeFree	Here, we evaluate whether any of the five tag SNPs (A118G, IVS2+G691C, IVS3+G5953A, IVS3+A8449G and TAA+A2109G) representing the four linkage disequilibrium blocks of the OPRM1 gene influences postoperative analgesic requirements.	0.000542884	2008	OPRM1	6	154039662	A	G
rs2246709	25171434	154	ADRB2	umls:C0162872	BeFree	We genotyped β2-adrenergic receptor (ADRB2) (Arg16Gly and Gln27Glu), cytochrome P450 3A4 (rs2246709, rs4646437), and uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) (rs4148323 [allele A, 6], rs12479045, rs4148328, rs4663971, rs12052787, rs4148329, A (TA)6/7 TAA [seven-repeat allele, 28]).	0.000271442	2015	CYP3A4	7	99768096	A	G
rs2246709	25171434	1576	CYP3A4	umls:C0162872	BeFree	We genotyped β2-adrenergic receptor (ADRB2) (Arg16Gly and Gln27Glu), cytochrome P450 3A4 (rs2246709, rs4646437), and uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) (rs4148323 [allele A, 6], rs12479045, rs4148328, rs4663971, rs12052787, rs4148329, A (TA)6/7 TAA [seven-repeat allele, 28]).	0.000271442	2015	CYP3A4	7	99768096	A	G
rs2285053	25120286	1636	ACE	umls:C0162872	BeFree	Interestingly, the rs4986790 TLR4 polymorphism confers a higher susceptibility for sporadic TAA (OR = 14.4, P = 0.0008) and it represents, together with rs1799752 ACE, rs3918242 MMP-9, and rs2285053 MMP-2 SNPs, an independent sporadic TAA risk factor.	0.000814326	2014	MMP2	16	55478465	C	T
rs2285053	25120286	4318	MMP9	umls:C0162872	BeFree	Interestingly, the rs4986790 TLR4 polymorphism confers a higher susceptibility for sporadic TAA (OR = 14.4, P = 0.0008) and it represents, together with rs1799752 ACE, rs3918242 MMP-9, and rs2285053 MMP-2 SNPs, an independent sporadic TAA risk factor.	0.200814326	2014	MMP2	16	55478465	C	T
rs2285053	25120286	4313	MMP2	umls:C0162872	BeFree	Interestingly, the rs4986790 TLR4 polymorphism confers a higher susceptibility for sporadic TAA (OR = 14.4, P = 0.0008) and it represents, together with rs1799752 ACE, rs3918242 MMP-9, and rs2285053 MMP-2 SNPs, an independent sporadic TAA risk factor.	0.200814326	2014	MMP2	16	55478465	C	T
rs3918242	25120286	4318	MMP9	umls:C0162872	BeFree	Interestingly, the rs4986790 TLR4 polymorphism confers a higher susceptibility for sporadic TAA (OR = 14.4, P = 0.0008) and it represents, together with rs1799752 ACE, rs3918242 MMP-9, and rs2285053 MMP-2 SNPs, an independent sporadic TAA risk factor.	0.200814326	2014	MMP9	20	46007337	C	T
rs3918242	25120286	1636	ACE	umls:C0162872	BeFree	Interestingly, the rs4986790 TLR4 polymorphism confers a higher susceptibility for sporadic TAA (OR = 14.4, P = 0.0008) and it represents, together with rs1799752 ACE, rs3918242 MMP-9, and rs2285053 MMP-2 SNPs, an independent sporadic TAA risk factor.	0.000814326	2014	MMP9	20	46007337	C	T
rs3918242	25120286	4313	MMP2	umls:C0162872	BeFree	Interestingly, the rs4986790 TLR4 polymorphism confers a higher susceptibility for sporadic TAA (OR = 14.4, P = 0.0008) and it represents, together with rs1799752 ACE, rs3918242 MMP-9, and rs2285053 MMP-2 SNPs, an independent sporadic TAA risk factor.	0.200814326	2014	MMP9	20	46007337	C	T
rs4148323	11906189	54658	UGT1A1	umls:C0162872	BeFree	Our results indicate that homozygosity and compound heterozygosity for mutations in the UGT1A1 gene promoter (T-3263G and A[TA](7)TAA) and/or exon 1 of the gene (G211A) could explain the hyperbilirubinemia seen in the majority of individuals with Gilbert's syndrome.	0.004071628	2002	UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3	2	233760498	G	A
rs4148323	25171434	1576	CYP3A4	umls:C0162872	BeFree	We genotyped β2-adrenergic receptor (ADRB2) (Arg16Gly and Gln27Glu), cytochrome P450 3A4 (rs2246709, rs4646437), and uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) (rs4148323 [allele A, 6], rs12479045, rs4148328, rs4663971, rs12052787, rs4148329, A (TA)6/7 TAA [seven-repeat allele, 28]).	0.000271442	2015	UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3	2	233760498	G	A
rs4148323	25171434	154	ADRB2	umls:C0162872	BeFree	We genotyped β2-adrenergic receptor (ADRB2) (Arg16Gly and Gln27Glu), cytochrome P450 3A4 (rs2246709, rs4646437), and uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) (rs4148323 [allele A, 6], rs12479045, rs4148328, rs4663971, rs12052787, rs4148329, A (TA)6/7 TAA [seven-repeat allele, 28]).	0.000271442	2015	UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3	2	233760498	G	A
rs4148328	25171434	1576	CYP3A4	umls:C0162872	BeFree	We genotyped β2-adrenergic receptor (ADRB2) (Arg16Gly and Gln27Glu), cytochrome P450 3A4 (rs2246709, rs4646437), and uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) (rs4148323 [allele A, 6], rs12479045, rs4148328, rs4663971, rs12052787, rs4148329, A (TA)6/7 TAA [seven-repeat allele, 28]).	0.000271442	2015	UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3	2	233769013	C	T
rs4148328	25171434	154	ADRB2	umls:C0162872	BeFree	We genotyped β2-adrenergic receptor (ADRB2) (Arg16Gly and Gln27Glu), cytochrome P450 3A4 (rs2246709, rs4646437), and uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) (rs4148323 [allele A, 6], rs12479045, rs4148328, rs4663971, rs12052787, rs4148329, A (TA)6/7 TAA [seven-repeat allele, 28]).	0.000271442	2015	UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3	2	233769013	C	T
rs4148329	25171434	1576	CYP3A4	umls:C0162872	BeFree	We genotyped β2-adrenergic receptor (ADRB2) (Arg16Gly and Gln27Glu), cytochrome P450 3A4 (rs2246709, rs4646437), and uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) (rs4148323 [allele A, 6], rs12479045, rs4148328, rs4663971, rs12052787, rs4148329, A (TA)6/7 TAA [seven-repeat allele, 28]).	0.000271442	2015	UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3	2	233773416	C	T
rs4148329	25171434	154	ADRB2	umls:C0162872	BeFree	We genotyped β2-adrenergic receptor (ADRB2) (Arg16Gly and Gln27Glu), cytochrome P450 3A4 (rs2246709, rs4646437), and uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) (rs4148323 [allele A, 6], rs12479045, rs4148328, rs4663971, rs12052787, rs4148329, A (TA)6/7 TAA [seven-repeat allele, 28]).	0.000271442	2015	UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3	2	233773416	C	T
rs4646437	25171434	1576	CYP3A4	umls:C0162872	BeFree	We genotyped β2-adrenergic receptor (ADRB2) (Arg16Gly and Gln27Glu), cytochrome P450 3A4 (rs2246709, rs4646437), and uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) (rs4148323 [allele A, 6], rs12479045, rs4148328, rs4663971, rs12052787, rs4148329, A (TA)6/7 TAA [seven-repeat allele, 28]).	0.000271442	2015	CYP3A4	7	99767460	G	A
rs4646437	25171434	154	ADRB2	umls:C0162872	BeFree	We genotyped β2-adrenergic receptor (ADRB2) (Arg16Gly and Gln27Glu), cytochrome P450 3A4 (rs2246709, rs4646437), and uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) (rs4148323 [allele A, 6], rs12479045, rs4148328, rs4663971, rs12052787, rs4148329, A (TA)6/7 TAA [seven-repeat allele, 28]).	0.000271442	2015	CYP3A4	7	99767460	G	A
rs4663971	25171434	1576	CYP3A4	umls:C0162872	BeFree	We genotyped β2-adrenergic receptor (ADRB2) (Arg16Gly and Gln27Glu), cytochrome P450 3A4 (rs2246709, rs4646437), and uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) (rs4148323 [allele A, 6], rs12479045, rs4148328, rs4663971, rs12052787, rs4148329, A (TA)6/7 TAA [seven-repeat allele, 28]).	0.000271442	2015	UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3	2	233765606	C	G
rs4663971	25171434	154	ADRB2	umls:C0162872	BeFree	We genotyped β2-adrenergic receptor (ADRB2) (Arg16Gly and Gln27Glu), cytochrome P450 3A4 (rs2246709, rs4646437), and uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) (rs4148323 [allele A, 6], rs12479045, rs4148328, rs4663971, rs12052787, rs4148329, A (TA)6/7 TAA [seven-repeat allele, 28]).	0.000271442	2015	UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3	2	233765606	C	G
rs4986790	25120286	4318	MMP9	umls:C0162872	BeFree	Interestingly, the rs4986790 TLR4 polymorphism confers a higher susceptibility for sporadic TAA (OR = 14.4, P = 0.0008) and it represents, together with rs1799752 ACE, rs3918242 MMP-9, and rs2285053 MMP-2 SNPs, an independent sporadic TAA risk factor.	0.200814326	2014	TLR4	9	117713024	A	G
rs4986790	25120286	4313	MMP2	umls:C0162872	BeFree	Interestingly, the rs4986790 TLR4 polymorphism confers a higher susceptibility for sporadic TAA (OR = 14.4, P = 0.0008) and it represents, together with rs1799752 ACE, rs3918242 MMP-9, and rs2285053 MMP-2 SNPs, an independent sporadic TAA risk factor.	0.200814326	2014	TLR4	9	117713024	A	G
rs4986790	25120286	1636	ACE	umls:C0162872	BeFree	Interestingly, the rs4986790 TLR4 polymorphism confers a higher susceptibility for sporadic TAA (OR = 14.4, P = 0.0008) and it represents, together with rs1799752 ACE, rs3918242 MMP-9, and rs2285053 MMP-2 SNPs, an independent sporadic TAA risk factor.	0.000814326	2014	TLR4	9	117713024	A	G
rs58597806	15286088	54658	UGT1A1	umls:C0162872	BeFree	The aim of this study was to evaluate the functional consequence of the UGT1A1(TA)(7)TAA (UGT1A1()28), UGT1A9 766G>A (D256N; UGT1A9()5), and UGT1A9 98T>C (M33T; UGT1A9(*)3) variants in Caucasian patients treated with irinotecan.	0.004071628	2004	UGT1A10;UGT1A8;UGT1A9	2	233672700	G	A
rs60978485	21087323	11005	SPINK5	umls:C0162872	BeFree	We also found that four SNPs [rs17718511 (P = 0.033), rs17860502 (P = 0.031), rs60978485 (P = 0.005), rs17718737 (P = 0.023)] and the haplotype TAA (P = 0.02) in the SPINK5 gene showed associations with the susceptibility of the allergic type of AD (ADe).	0.000271442	2010	SPINK5	5	148091116	A	T
rs72551330	15286088	54658	UGT1A1	umls:C0162872	BeFree	The aim of this study was to evaluate the functional consequence of the UGT1A1(TA)(7)TAA (UGT1A1()28), UGT1A9 766G>A (D256N; UGT1A9()5), and UGT1A9 98T>C (M33T; UGT1A9(*)3) variants in Caucasian patients treated with irinotecan.	0.004071628	2004	UGT1A10;UGT1A8;UGT1A9	2	233672032	T	C
rs900	24707114	7042	TGFB2	umls:C0162872	BeFree	Role of TGF-β pathway polymorphisms in sporadic thoracic aortic aneurysm: rs900 TGF-β2 is a marker of differential gender susceptibility.	0.121357209	2014	TGFB2;TGFB2-OT1	1	218441563	A	T

GWASdb Annotation(Total Genotypes:0)
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GWASdb Snp Trait(Total Genotypes:0)
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Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
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Chemical(Total Drugs:1)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0162872	amphetamine	D000661	300-62-9	aortic aneurysm, thoracic	MESH:D017545	marker/mechanism	20691838

FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
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