PedAM

Pediatric Disease Annotations & Medicines


	aortic disease

Disease ID	1569
Disease	aortic disease
Definition	Pathological processes involving any part of the AORTA.
Synonym	aorta disease aorta diseases aorta disorder aorta--diseases aortic dis aortic diseases aortic diseases [disease/finding] aortic disorder aortic disorders disease of aorta disease of the aorta disease of the aorta (disorder) disease of the aorta, nos disease, aortic diseases of the aorta diseases, aortic disorder of aorta disorder of aorta (disorder) disorder of aorta, nos disorder of the aorta (disorder)
DOID	DOID:520
UMLS	C0003493
MeSH	D001018
SNOMED-CT	SNOMEDCT_US_2016_09_01:47040006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:20) C0024796 \| marfan syndrome \| 7 C0011847 \| diabetes \| 2 C0041408 \| turner syndrome \| 1 C0028754 \| adiposity \| 1 C0039263 \| takayasu's disease \| 1 C0022116 \| ischemia \| 1 C0029434 \| osteogenesis imperfecta \| 1 C0265313 \| marchesani syndrome \| 1 C0004153 \| atherosclerosis \| 1 C0004943 \| behcet's disease \| 1 C0041341 \| tuberous sclerosis complex \| 1 C0037315 \| sleep apnea \| 1 C0024796 \| marfan's syndrome \| 1 C0041341 \| tuberous sclerosis \| 1 C0003486 \| aortic aneurysm \| 1 C0265313 \| weill-marchesani syndrome \| 1 C0028754 \| obesity \| 1 C0520679 \| obstructive sleep apnea \| 1 C0003486 \| aortic aneurysms \| 1 C0039263 \| takayasu arteritis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:20) SOD1 \| 6647 \| CTD_human SOD2 \| 6648 \| CTD_human SMAD3 \| 4088 \| UniProtKB-KW;GHR MMP9 \| 4318 \| CTD_human MYH11 \| 4629 \| UniProtKB-KW;GHR FBN1 \| 2200 \| UniProtKB-KW;GHR COL3A1 \| 1281 \| UniProtKB-KW CAT \| 847 \| CTD_human ACTA2 \| 59 \| UniProtKB-KW;GHR TGFB2 \| 7042 \| UniProtKB-KW TGFBR2 \| 7048 \| UniProtKB-KW;GHR MMP2 \| 4313 \| CTD_human LAMC1 \| 3915 \| CTD_human PRKG1 \| 5592 \| UniProtKB-KW;GHR LOX \| 4015 \| UniProtKB-KW TGFBR1 \| 7046 \| UniProtKB-KW;GHR BGN \| 633 \| UniProtKB-KW FOXE3 \| 2301 \| UniProtKB-KW MYLK \| 4638 \| UniProtKB-KW;GHR MFAP5 \| 8076 \| UniProtKB-KW
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:304) 100048912 \| CDKN2B-AS1 \| DISEASES 1634 \| DCN \| DISEASES 1361 \| CPB2 \| DISEASES 8086 \| AAAS \| DISEASES 3162 \| HMOX1 \| DISEASES 1511 \| CTSG \| DISEASES 191 \| AHCY \| DISEASES 10857 \| PGRMC1 \| DISEASES 27344 \| PCSK1N \| DISEASES 7076 \| TIMP1 \| DISEASES 4313 \| MMP2 \| DISEASES 10423 \| CDIPT \| DISEASES 5327 \| PLAT \| DISEASES 7040 \| TGFB1 \| DISEASES 973 \| CD79A \| DISEASES 3036 \| HAS1 \| DISEASES 5054 \| SERPINE1 \| DISEASES 733 \| C8G \| DISEASES 59 \| ACTA2 \| DISEASES 6348 \| CCL3 \| DISEASES 4353 \| MPO \| DISEASES 8688 \| KRT37 \| DISEASES 6347 \| CCL2 \| DISEASES 7448 \| VTN \| DISEASES 3458 \| IFNG \| DISEASES 2822 \| GPLD1 \| DISEASES 9896 \| FIG4 \| DISEASES 4015 \| LOX \| DISEASES 3593 \| IL12B \| DISEASES 662 \| BNIP1 \| DISEASES 4820 \| NKTR \| DISEASES 338 \| APOB \| DISEASES 374291 \| NDUFS7 \| DISEASES 5657 \| PRTN3 \| DISEASES 6402 \| SELL \| DISEASES 1509 \| CTSD \| DISEASES 4317 \| MMP8 \| DISEASES 103910 \| MYL12B \| DISEASES 3070 \| HELLS \| DISEASES 27434 \| POLM \| DISEASES 56829 \| ZC3HAV1 \| DISEASES 58158 \| NEUROD4 \| DISEASES 4035 \| LRP1 \| DISEASES 6431 \| SRSF6 \| DISEASES 29108 \| PYCARD \| DISEASES 968 \| CD68 \| DISEASES 1215 \| CMA1 \| DISEASES 2006 \| ELN \| DISEASES 348 \| APOE \| DISEASES 10343 \| PKDREJ \| DISEASES 314 \| AOC2 \| DISEASES 113 \| ADCY7 \| DISEASES 3958 \| LGALS3 \| DISEASES 1401 \| CRP \| DISEASES 23743 \| BHMT2 \| DISEASES 6272 \| SORT1 \| DISEASES 5279 \| PIGC \| DISEASES 3569 \| IL6 \| DISEASES 11143 \| KAT7 \| DISEASES 3557 \| IL1RN \| DISEASES 153090 \| DAB2IP \| DISEASES 4856 \| NOV \| DISEASES 1208 \| CLPS \| DISEASES 4316 \| MMP7 \| DISEASES 4322 \| MMP13 \| DISEASES 7057 \| THBS1 \| DISEASES 7450 \| VWF \| DISEASES 11019 \| LIAS \| DISEASES 27190 \| IL17B \| DISEASES 4016 \| LOXL1 \| DISEASES 4087 \| SMAD2 \| DISEASES 2201 \| FBN2 \| DISEASES 7077 \| TIMP2 \| DISEASES 5613 \| PRKX \| DISEASES 25939 \| SAMHD1 \| DISEASES 1265 \| CNN2 \| DISEASES 50507 \| NOX4 \| DISEASES 3552 \| IL1A \| DISEASES 3553 \| IL1B \| DISEASES 1991 \| ELANE \| DISEASES 6403 \| SELP \| DISEASES 51192 \| CKLF \| DISEASES 22794 \| CASC3 \| DISEASES 6774 \| STAT3 \| DISEASES 3383 \| ICAM1 \| DISEASES 1462 \| VCAN \| DISEASES 1390 \| CREM \| DISEASES 51608 \| GET4 \| DISEASES 5286 \| PIK3C2A \| DISEASES 7078 \| TIMP3 \| DISEASES 170691 \| ADAMTS17 \| DISEASES 81794 \| ADAMTS10 \| DISEASES 54507 \| ADAMTSL4 \| DISEASES 5972 \| REN \| DISEASES 185 \| AGTR1 \| DISEASES 2169 \| FABP2 \| DISEASES 170690 \| ADAMTS16 \| DISEASES 10769 \| PLK2 \| DISEASES 635 \| BHMT \| DISEASES 4841 \| NONO \| DISEASES 1030 \| CDKN2B \| DISEASES 3934 \| LCN2 \| DISEASES 4851 \| NOTCH1 \| DISEASES 6876 \| TAGLN \| DISEASES 1054 \| CEBPG \| DISEASES 9510 \| ADAMTS1 \| DISEASES 9947 \| MAGEC1 \| DISEASES 129831 \| RBM45 \| DISEASES 154064 \| RAET1L \| DISEASES 27163 \| NAAA \| DISEASES 4838 \| NODAL \| DISEASES 7547 \| ZIC3 \| DISEASES 7079 \| TIMP4 \| DISEASES 5468 \| PPARG \| DISEASES 653361 \| NCF1 \| DISEASES 1636 \| ACE \| DISEASES 8209 \| C21orf33 \| DISEASES 84221 \| SPATC1L \| DISEASES 729230 \| CCR2 \| DISEASES 1234 \| CCR5 \| DISEASES 5130 \| PCYT1A \| DISEASES 6352 \| CCL5 \| DISEASES 3678 \| ITGA5 \| DISEASES 7412 \| VCAM1 \| DISEASES 2168 \| FABP1 \| DISEASES 213 \| ALB \| DISEASES 5473 \| PPBP \| DISEASES 5196 \| PF4 \| DISEASES 1278 \| COL1A2 \| DISEASES 4982 \| TNFRSF11B \| DISEASES 4846 \| NOS3 \| DISEASES 5267 \| SERPINA4 \| DISEASES 4314 \| MMP3 \| DISEASES 92292 \| GLYATL1 \| DISEASES 90678 \| LRSAM1 \| DISEASES 3816 \| KLK1 \| DISEASES 54986 \| ULK4 \| DISEASES 4054 \| LTBP3 \| DISEASES 3479 \| IGF1 \| DISEASES 5734 \| PTGER4 \| DISEASES 6795 \| AURKC \| DISEASES 1281 \| COL3A1 \| DISEASES 56246 \| MRAP \| DISEASES 1241 \| LTB4R \| DISEASES 4323 \| MMP14 \| DISEASES 197259 \| MLKL \| DISEASES 2147 \| F2 \| DISEASES 5340 \| PLG \| DISEASES 572 \| BAD \| DISEASES 30008 \| EFEMP2 \| DISEASES 947 \| CD34 \| DISEASES 2286 \| FKBP2 \| DISEASES 836 \| CASP3 \| DISEASES 8425 \| LTBP4 \| DISEASES 50804 \| MYEF2 \| DISEASES 53905 \| DUOX1 \| DISEASES 5345 \| SERPINF2 \| DISEASES 3039 \| HBA1 \| DISEASES 4312 \| MMP1 \| DISEASES 84985 \| FAM83A \| DISEASES 11336 \| EXOC3 \| DISEASES 29895 \| MYLPF \| DISEASES 63925 \| ZNF335 \| DISEASES 2200 \| FBN1 \| DISEASES 3052 \| HCCS \| DISEASES 26230 \| TIAM2 \| DISEASES 633 \| BGN \| DISEASES 5831 \| PYCR1 \| DISEASES 57649 \| PHF12 \| DISEASES 6401 \| SELE \| DISEASES 1485 \| CTAG1B \| DISEASES 5813 \| PURA \| DISEASES 4088 \| SMAD3 \| DISEASES 5104 \| SERPINA5 \| DISEASES 2152 \| F3 \| DISEASES 23583 \| SMUG1 \| DISEASES 2686 \| GGT7 \| DISEASES 3266 \| ERAS \| DISEASES 7060 \| THBS4 \| DISEASES 5493 \| PPL \| DISEASES 347468 \| OR13H1 \| DISEASES 4089 \| SMAD4 \| DISEASES 7137 \| TNNI3 \| DISEASES 1508 \| CTSB \| DISEASES 9536 \| PTGES \| DISEASES 3146 \| HMGB1 \| DISEASES 1003 \| CDH5 \| DISEASES 3605 \| IL17A \| DISEASES 10516 \| FBLN5 \| DISEASES 55556 \| ENOSF1 \| DISEASES 2879 \| GPX4 \| DISEASES 9719 \| ADAMTSL2 \| DISEASES 133584 \| EGFLAM \| DISEASES 5265 \| SERPINA1 \| DISEASES 3240 \| HP \| DISEASES 55871 \| CBWD1 \| DISEASES 51460 \| SFMBT1 \| DISEASES 26052 \| DNM3 \| DISEASES 6525 \| SMTN \| DISEASES 7048 \| TGFBR2 \| DISEASES 81031 \| SLC2A10 \| DISEASES 8076 \| MFAP5 \| DISEASES 4151 \| MB \| DISEASES 4638 \| MYLK \| DISEASES 5599 \| MAPK8 \| DISEASES 578 \| BAK1 \| DISEASES 6238 \| RRBP1 \| DISEASES 731 \| C8A \| DISEASES 10724 \| MGEA5 \| DISEASES 28514 \| DLL1 \| DISEASES 7042 \| TGFB2 \| DISEASES 25936 \| NSL1 \| DISEASES 5788 \| PTPRC \| DISEASES 5743 \| PTGS2 \| DISEASES 462 \| SERPINC1 \| DISEASES 92346 \| C1orf105 \| DISEASES 1490 \| CTGF \| DISEASES 126668 \| TDRD10 \| DISEASES 3570 \| IL6R \| DISEASES 6283 \| S100A12 \| DISEASES 8528 \| DDO \| DISEASES 1520 \| CTSS \| DISEASES 100272147 \| CMC4 \| DISEASES 2316 \| FLNA \| DISEASES 23443 \| SLC35A3 \| DISEASES 1266 \| CNN3 \| DISEASES 959 \| CD40LG \| DISEASES 3725 \| JUN \| DISEASES 732 \| C8B \| DISEASES 25973 \| PARS2 \| DISEASES 1289 \| COL5A1 \| DISEASES 7422 \| VEGFA \| DISEASES 4318 \| MMP9 \| DISEASES 63935 \| PCIF1 \| DISEASES 5328 \| PLAU \| DISEASES 2022 \| ENG \| DISEASES 65108 \| MARCKSL1 \| DISEASES 286205 \| SCAI \| DISEASES 7099 \| TLR4 \| DISEASES 5592 \| PRKG1 \| DISEASES 4303 \| FOXO4 \| DISEASES 240 \| ALOX5 \| DISEASES 3339 \| HSPG2 \| DISEASES 7046 \| TGFBR1 \| DISEASES 1306 \| COL15A1 \| DISEASES 4237 \| MFAP2 \| DISEASES 2155 \| F7 \| DISEASES 3055 \| HCK \| DISEASES 4524 \| MTHFR \| DISEASES 158471 \| PRUNE2 \| DISEASES 1471 \| CST3 \| DISEASES 7056 \| THBD \| DISEASES 441376 \| AARD \| DISEASES 1536 \| CYBB \| DISEASES 1906 \| EDN1 \| DISEASES 92949 \| ADAMTSL1 \| DISEASES 2835 \| GPR12 \| DISEASES 9751 \| SNPH \| DISEASES 440163 \| RNASE13 \| DISEASES 50506 \| DUOX2 \| DISEASES 22908 \| SACM1L \| DISEASES 10123 \| ARL4C \| DISEASES 11009 \| IL24 \| DISEASES 136319 \| MTPN \| DISEASES 145270 \| PRIMA1 \| DISEASES 6696 \| SPP1 \| DISEASES 4239 \| MFAP4 \| DISEASES 831 \| CAST \| DISEASES 4629 \| MYH11 \| DISEASES 79659 \| DYNC2H1 \| DISEASES 644150 \| WIPF3 \| DISEASES 10903 \| MTMR11 \| DISEASES 1719 \| DHFR \| DISEASES 50863 \| NTM \| DISEASES 7124 \| TNF \| DISEASES 441581 \| FRG2B \| DISEASES 93649 \| MYOCD \| DISEASES 399697 \| CTXN2 \| DISEASES 81704 \| DOCK8 \| DISEASES 1132 \| CHRM4 \| DISEASES 834 \| CASP1 \| DISEASES 3586 \| IL10 \| DISEASES 374308 \| PTCHD3 \| DISEASES 8260 \| NAA10 \| DISEASES 400916 \| CHCHD10 \| DISEASES 347273 \| MURC \| DISEASES 2317 \| FLNB \| DISEASES 10189 \| ALYREF \| DISEASES 1379 \| CR1L \| DISEASES 149466 \| C1orf210 \| DISEASES 4586 \| MUC5AC \| DISEASES 283212 \| KLHL35 \| DISEASES 3684 \| ITGAM \| DISEASES 4522 \| MTHFD1 \| DISEASES 53349 \| ZFYVE1 \| DISEASES 3949 \| LDLR \| DISEASES 84033 \| OBSCN \| DISEASES 55554 \| KLK15 \| DISEASES 100750246 \| HIF1A-AS1 \| DISEASES 102723508 \| KANTR \| DISEASES 100506195 \| LARGE-AS1 \| DISEASES 100506622 \| LINC00540 \| DISEASES 404744 \| NPSR1-AS1 \| DISEASES 7955 \| RNF217-AS1 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1569
Disease	aortic disease
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:11) HP:0002617 \| Aneurysmal dilatation \| 3 HP:0004942 \| Aortic aneurysm \| 1 HP:0000077 \| Renal anomaly \| 1 HP:0001513 \| Obesity \| 1 HP:0012089 \| Arteritis \| 1 HP:0012649 \| Increased inflammatory response \| 1 HP:0002104 \| Absence of spontaneous respiration \| 1 HP:0010535 \| Sleep apnea \| 1 HP:0002870 \| Obstructive sleep apnea \| 1 HP:0002621 \| Atherosclerosis \| 1 HP:0002647 \| Aortic dissection \| 1

Disease ID	1569
Disease	aortic disease
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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

All Snps(Total Genotypes:0)
(Waiting for update.)

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:9)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0003493	aminocaproic acid	D015119	60-32-2	aortic diseases	MESH:D001018	marker/mechanism	8786498
C0003493	caffeine	D002110	1958/8/2	aortic diseases	MESH:D001018	marker/mechanism	12517685
C0003493	choline	D002794	62-49-7	aortic diseases	MESH:D001018	marker/mechanism	27567547
C0003493	cisplatin	D002945	15663-27-1	aortic diseases	MESH:D001018	marker/mechanism	2729179
C0003493	calcitriol	D002117	32222-06-3	aortic diseases	MESH:D001018	marker/mechanism	16491297
C0003493	fluorouracil	D005472	51-21-8	aortic diseases	MESH:D001018	marker/mechanism	2729179
C0003493	nicotine	D009538	-	aortic diseases	MESH:D001018	marker/mechanism	15025861
C0003493	theophylline	D013806	58-55-9	aortic diseases	MESH:D001018	marker/mechanism	2251542
C0003493	cholecalciferol	D002762	67-97-0	aortic diseases	MESH:D001018	marker/mechanism	12803500

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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