PedAM

Pediatric Disease Annotations & Medicines


	kawasaki disease

Disease ID	98
Disease	kawasaki disease
Definition	An acute, febrile, mucocutaneous condition accompanied by swelling of cervical lymph nodes in infants and young children. The principal symptoms are fever, congestion of the ocular conjunctivae, reddening of the lips and oral cavity, protuberance of tongue papillae, and edema or erythema of the extremities.
Synonym	acute febrile mcls acute febrile mucocutaneous lymph node syndrome acute febrile mucocutaneous lymph node syndrome (disorder) acute febrile mucocutaneous lymph node syndrome [mcls] acute febrile mucocutaneous lymph node syndrome nos acute febrile mucocutaneous lymph node syndrome nos (disorder) infantile polyarteritis nodosa kawasaki dis kawasaki syndrome kawasaki's disease kawasaki's disease (disorder) kawasaki's syndrome kawasakis mucocutaneous lymph node syndrome kawasakis syndrome kd lymph node syndrome, mucocutaneous mcls mlns mucocutan lymph node syn mucocutaneous lymph node syndrome mucocutaneous lymph node syndrome [disease/finding]
Orphanet	ORPHANET:2331
OMIM	OMIM:611775
DOID	DOID:13378
UMLS	C0026691
MeSH	D009080
SNOMED-CT	SNOMEDCT_US_2016_09_01:75053002
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:67) C0010051 \| coronary artery aneurysm \| 31 C0010051 \| coronary aneurysm \| 22 C0010051 \| coronary artery aneurysms \| 19 C0010051 \| coronary aneurysms \| 14 C0042384 \| vasculitis \| 5 C0027051 \| myocardial infarction \| 5 C0027059 \| myocarditis \| 5 C0027051 \| myocardial infarct \| 5 C0155626 \| acute myocardial infarction \| 3 C0040053 \| thrombus \| 3 C0004153 \| atherosclerosis \| 3 C0018203 \| chronic granulomatous disease \| 2 C0034359 \| pyuria \| 2 C0032302 \| mycoplasma pneumonia \| 2 C0042769 \| viral infections \| 2 C0021400 \| influenza \| 2 C0022116 \| ischaemia \| 2 C0040053 \| thrombosis \| 2 C0042769 \| viral infection \| 2 C0014742 \| erythema multiforme \| 2 C0032285 \| pneumoniae \| 2 C0010068 \| coronary artery disease \| 2 C0027726 \| nephrotic syndrome \| 2 C0041408 \| turner syndrome \| 1 C0018799 \| cardiac disease \| 1 C0020538 \| hypertension \| 1 C0038644 \| sudden infant death \| 1 C0010068 \| coronary disease \| 1 C0034150 \| purpura \| 1 C0917996 \| cerebral aneurysm \| 1 C0002880 \| autoimmune hemolytic anemia \| 1 C0021847 \| intestinal pseudo-obstruction \| 1 C0036992 \| short-bowel syndrome \| 1 C0003864 \| arthritis \| 1 C0002878 \| hemolytic anemia \| 1 C0343084 \| capillary leak syndrome \| 1 C0151744 \| myocardial ischaemia \| 1 C0085113 \| neurofibromatosis \| 1 C0007642 \| cellulitis \| 1 C0022116 \| ischemia \| 1 C0042870 \| vitamin d deficiency \| 1 C0001197 \| acrodermatitis \| 1 C0007785 \| cerebral infarct \| 1 C0027819 \| neuroblastoma \| 1 C0027051 \| myocardial infarction (mi) \| 1 C0029443 \| osteomyelitis \| 1 C0011603 \| dermatitis \| 1 C0025290 \| aseptic meningitis \| 1 C0042870 \| vitamin d defic \| 1 C0039263 \| takayasu's arteritis \| 1 C0010054 \| coronary atherosclerosis \| 1 C0343084 \| systemic capillary leak syndrome \| 1 C0155686 \| acute myocarditis \| 1 C0022658 \| nephropathy \| 1 C0021933 \| intussusception \| 1 C0018784 \| sensorineural hearing loss \| 1 C0024291 \| hemophagocytic lymphohistiocytosis \| 1 C0030305 \| pancreatitis \| 1 C0020542 \| pulmonary hypertension \| 1 C0034152 \| henoch-schonlein purpura \| 1 C0015464 \| facial palsy \| 1 C0018799 \| heart disease \| 1 C0017920 \| g6pd deficiency \| 1 C0042769 \| virus infection \| 1 C0007785 \| cerebral infarction \| 1 C0003467 \| anxiety \| 1 C0026934 \| mycoplasma \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:11) ITPKC \| 80271 \| CTD_human;GWASCAT;GHR CD40 \| 958 \| CTD_human FCGR2A \| 2212 \| CTD_human;GWASCAT BLK \| 640 \| CTD_human CENPU \| 79682 \| GWASCAT MIA-RAB4B \| 100529262 \| GWASCAT NAALADL2 \| 254827 \| GWASCAT KCNN2 \| 3781 \| GWASCAT MIA \| 8190 \| GWASCAT TECRL \| 253017 \| GWASCAT MED30 \| 90390 \| GWASCAT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:58) 56244 \| BTNL2 \| infer 929 \| CD14 \| infer 958 \| CD40 \| infer 2212 \| FCGR2A \| infer 2214 \| FCGR3A \| infer 2215 \| FCGR3B \| infer 3162 \| HMOX1 \| infer 3586 \| IL10 \| infer 3553 \| IL1B \| infer 3557 \| IL1RN \| infer 3565 \| IL4 \| infer 3569 \| IL6 \| infer 3791 \| KDR \| infer 4153 \| MBL2 \| infer 254827 \| NAALADL2 \| infer 4846 \| NOS3 \| infer 7124 \| TNF \| infer 121278 \| TPH2 \| infer 54600 \| UGT1A9 \| infer 7422 \| VEGFA \| infer 463 \| ZFHX3 \| infer 1636 \| ACE \| infer 53339 \| BTBD1 \| infer 817 \| CAMK2D \| infer 836 \| CASP3 \| infer 6349 \| CCL3L1 \| infer 729230 \| CCR2 \| infer 1232 \| CCR3 \| infer 1234 \| CCR5 \| infer 64478 \| CSMD1 \| infer 1524 \| CX3CR1 \| infer 83648 \| FAM167A \| infer 3105 \| HLA-A \| infer 3106 \| HLA-B \| infer 3107 \| HLA-C \| infer 3120 \| HLA-DQB2 \| infer 3123 \| HLA-DRB1 \| infer 28461 \| IGHV1-69 \| infer 3606 \| IL18 \| infer 3552 \| IL1A \| infer 80271 \| ITPKC \| infer 84708 \| LNX1 \| infer 90390 \| MED30 \| infer 8190 \| MIA \| infer 4320 \| MMP11 \| infer 4321 \| MMP12 \| infer 56547 \| MMP26 \| infer 4314 \| MMP3 \| infer 4316 \| MMP7 \| infer 57162 \| PELI1 \| infer 140464 \| PISRT1 \| infer 151742 \| PPM1L \| infer 81706 \| PPP1R14C \| infer 128500 \| RPL13P2 \| infer 6950 \| TCP1 \| infer 253017 \| TECRL \| infer 7040 \| TGFB1 \| infer 414357 \| VKORC1P2 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:266) 3385 \| ICAM3 \| DISEASES 634 \| CEACAM1 \| DISEASES 7132 \| TNFRSF1A \| DISEASES 30009 \| TBX21 \| DISEASES 112755 \| STX1B \| DISEASES 8174 \| MADCAM1 \| DISEASES 4282 \| MIF \| DISEASES 3162 \| HMOX1 \| DISEASES 23551 \| RASD2 \| DISEASES 10454 \| TAB1 \| DISEASES 3929 \| LBP \| DISEASES 7076 \| TIMP1 \| DISEASES 2862 \| MLNR \| DISEASES 6367 \| CCL22 \| DISEASES 6361 \| CCL17 \| DISEASES 2217 \| FCGRT \| DISEASES 56729 \| RETN \| DISEASES 973 \| CD79A \| DISEASES 57817 \| HAMP \| DISEASES 10282 \| BET1 \| DISEASES 3696 \| ITGB8 \| DISEASES 10392 \| NOD1 \| DISEASES 4353 \| MPO \| DISEASES 1440 \| CSF3 \| DISEASES 6347 \| CCL2 \| DISEASES 3558 \| IL2 \| DISEASES 969 \| CD69 \| DISEASES 51561 \| IL23A \| DISEASES 4055 \| LTBR \| DISEASES 3458 \| IFNG \| DISEASES 3565 \| IL4 \| DISEASES 6556 \| SLC11A1 \| DISEASES 338 \| APOB \| DISEASES 3554 \| IL1R1 \| DISEASES 5657 \| PRTN3 \| DISEASES 6402 \| SELL \| DISEASES 335 \| APOA1 \| DISEASES 5533 \| PPP3CC \| DISEASES 22914 \| KLRK1 \| DISEASES 7130 \| TNFAIP6 \| DISEASES 55509 \| BATF3 \| DISEASES 10893 \| MMP24 \| DISEASES 1236 \| CCR7 \| DISEASES 8854 \| ALDH1A2 \| DISEASES 968 \| CD68 \| DISEASES 79148 \| MMP28 \| DISEASES 2006 \| ELN \| DISEASES 1401 \| CRP \| DISEASES 55303 \| GIMAP4 \| DISEASES 4064 \| CD180 \| DISEASES 80263 \| TRIM45 \| DISEASES 10906 \| TRAFD1 \| DISEASES 3569 \| IL6 \| DISEASES 640 \| BLK \| DISEASES 3557 \| IL1RN \| DISEASES 55997 \| CFC1 \| DISEASES 6366 \| CCL21 \| DISEASES 7097 \| TLR2 \| DISEASES 1419 \| CRYGB \| DISEASES 28966 \| SNX24 \| DISEASES 7450 \| VWF \| DISEASES 8482 \| SEMA7A \| DISEASES 51816 \| CECR1 \| DISEASES 7305 \| TYROBP \| DISEASES 245812 \| CNPY4 \| DISEASES 3682 \| ITGAE \| DISEASES 3552 \| IL1A \| DISEASES 3553 \| IL1B \| DISEASES 80271 \| ITPKC \| DISEASES 1991 \| ELANE \| DISEASES 6403 \| SELP \| DISEASES 26511 \| CHIC2 \| DISEASES 3791 \| KDR \| DISEASES 84708 \| LNX1 \| DISEASES 10382 \| TUBB4A \| DISEASES 941 \| CD80 \| DISEASES 3781 \| KCNN2 \| DISEASES 3383 \| ICAM1 \| DISEASES 8829 \| NRP1 \| DISEASES 2515 \| ADAM2 \| DISEASES 3695 \| ITGB7 \| DISEASES 3687 \| ITGAX \| DISEASES 463 \| ZFHX3 \| DISEASES 2212 \| FCGR2A \| DISEASES 3756 \| KCNH1 \| DISEASES 275 \| AMT \| DISEASES 6988 \| TCTA \| DISEASES 4841 \| NONO \| DISEASES 133 \| ADM \| DISEASES 3606 \| IL18 \| DISEASES 5805 \| PTS \| DISEASES 83648 \| FAM167A \| DISEASES 23643 \| LY96 \| DISEASES 23118 \| TAB2 \| DISEASES 10563 \| CXCL13 \| DISEASES 123803 \| NTAN1 \| DISEASES 1636 \| ACE \| DISEASES 729230 \| CCR2 \| DISEASES 1234 \| CCR5 \| DISEASES 6352 \| CCL5 \| DISEASES 7412 \| VCAM1 \| DISEASES 2215 \| FCGR3B \| DISEASES 213 \| ALB \| DISEASES 5648 \| MASP1 \| DISEASES 308 \| ANXA5 \| DISEASES 51752 \| ERAP1 \| DISEASES 1437 \| CSF2 \| DISEASES 114788 \| CSMD3 \| DISEASES 5896 \| RAG1 \| DISEASES 4314 \| MMP3 \| DISEASES 51129 \| ANGPTL4 \| DISEASES 64581 \| CLEC7A \| DISEASES 116844 \| LRG1 \| DISEASES 3689 \| ITGB2 \| DISEASES 1493 \| CTLA4 \| DISEASES 929 \| CD14 \| DISEASES 171558 \| PTCRA \| DISEASES 3596 \| IL13 \| DISEASES 4330 \| MN1 \| DISEASES 3627 \| CXCL10 \| DISEASES 5340 \| PLG \| DISEASES 8302 \| KLRC4 \| DISEASES 836 \| CASP3 \| DISEASES 2523 \| FUT1 \| DISEASES 8832 \| CD84 \| DISEASES 713 \| C1QB \| DISEASES 767 \| CA8 \| DISEASES 1191 \| CLU \| DISEASES 30835 \| CD209 \| DISEASES 79966 \| SCD5 \| DISEASES 80381 \| CD276 \| DISEASES 137814 \| NKX2-6 \| DISEASES 170591 \| S100Z \| DISEASES 81618 \| ITM2C \| DISEASES 25915 \| NDUFAF3 \| DISEASES 26999 \| CYFIP2 \| DISEASES 113457 \| TUBA3D \| DISEASES 10250 \| SRRM1 \| DISEASES 8784 \| TNFRSF18 \| DISEASES 84876 \| ORAI1 \| DISEASES 256435 \| ST6GALNAC3 \| DISEASES 9276 \| COPB2 \| DISEASES 6401 \| SELE \| DISEASES 942 \| CD86 \| DISEASES 25830 \| SULT4A1 \| DISEASES 4088 \| SMAD3 \| DISEASES 5332 \| PLCB4 \| DISEASES 2152 \| F3 \| DISEASES 353144 \| LCE3C \| DISEASES 5138 \| PDE2A \| DISEASES 353143 \| LCE3B \| DISEASES 114548 \| NLRP3 \| DISEASES 10948 \| STARD3 \| DISEASES 64386 \| MMP25 \| DISEASES 817 \| CAMK2D \| DISEASES 3329 \| HSPD1 \| DISEASES 966 \| CD59 \| DISEASES 7137 \| TNNI3 \| DISEASES 3146 \| HMGB1 \| DISEASES 3455 \| IFNAR2 \| DISEASES 3605 \| IL17A \| DISEASES 199953 \| TMEM201 \| DISEASES 80279 \| CDK5RAP3 \| DISEASES 6284 \| S100A13 \| DISEASES 56479 \| KCNQ5 \| DISEASES 57556 \| SEMA6A \| DISEASES 223 \| ALDH9A1 \| DISEASES 83593 \| RASSF5 \| DISEASES 5265 \| SERPINA1 \| DISEASES 3240 \| HP \| DISEASES 140885 \| SIRPA \| DISEASES 3683 \| ITGAL \| DISEASES 53916 \| RAB4B \| DISEASES 10803 \| CCR9 \| DISEASES 1524 \| CX3CR1 \| DISEASES 2213 \| FCGR2B \| DISEASES 57162 \| PELI1 \| DISEASES 7048 \| TGFBR2 \| DISEASES 3123 \| HLA-DRB1 \| DISEASES 11177 \| BAZ1A \| DISEASES 170482 \| CLEC4C \| DISEASES 54106 \| TLR9 \| DISEASES 58484 \| NLRC4 \| DISEASES 4283 \| CXCL9 \| DISEASES 116443 \| GRIN3A \| DISEASES 7179 \| TPTE \| DISEASES 81706 \| PPP1R14C \| DISEASES 961 \| CD47 \| DISEASES 7042 \| TGFB2 \| DISEASES 3664 \| IRF6 \| DISEASES 25802 \| LMOD1 \| DISEASES 2214 \| FCGR3A \| DISEASES 911 \| CD1C \| DISEASES 6283 \| S100A12 \| DISEASES 6280 \| S100A9 \| DISEASES 2209 \| FCGR1A \| DISEASES 959 \| CD40LG \| DISEASES 7422 \| VEGFA \| DISEASES 64405 \| CDH22 \| DISEASES 958 \| CD40 \| DISEASES 4318 \| MMP9 \| DISEASES 80312 \| TET1 \| DISEASES 2833 \| CXCR3 \| DISEASES 7099 \| TLR4 \| DISEASES 3304 \| HSPA1B \| DISEASES 80737 \| VWA7 \| DISEASES 4439 \| MSH5 \| DISEASES 3055 \| HCK \| DISEASES 10673 \| TNFSF13B \| DISEASES 7916 \| PRRC2A \| DISEASES 50943 \| FOXP3 \| DISEASES 100507436 \| MICA \| DISEASES 7133 \| TNFRSF1B \| DISEASES 1041 \| CDSN \| DISEASES 4879 \| NPPB \| DISEASES 386653 \| IL31 \| DISEASES 10529 \| NEBL \| DISEASES 11332 \| ACOT7 \| DISEASES 8418 \| CMAHP \| DISEASES 57126 \| CD177 \| DISEASES 414062 \| CCL3L3 \| DISEASES 9308 \| CD83 \| DISEASES 2625 \| GATA3 \| DISEASES 93978 \| CLEC6A \| DISEASES 6545 \| SLC7A4 \| DISEASES 53353 \| LRP1B \| DISEASES 55054 \| ATG16L1 \| DISEASES 11262 \| SP140 \| DISEASES 27040 \| LAT \| DISEASES 7920 \| ABHD16A \| DISEASES 80380 \| PDCD1LG2 \| DISEASES 10410 \| IFITM3 \| DISEASES 7278 \| TUBA3C \| DISEASES 1052 \| CEBPD \| DISEASES 50489 \| CD207 \| DISEASES 4295 \| MLN \| DISEASES 3112 \| HLA-DOB \| DISEASES 50863 \| NTM \| DISEASES 7124 \| TNF \| DISEASES 3106 \| HLA-B \| DISEASES 4615 \| MYD88 \| DISEASES 5334 \| PLCL1 \| DISEASES 3594 \| IL12RB1 \| DISEASES 4049 \| LTA \| DISEASES 254827 \| NAALADL2 \| DISEASES 79827 \| CLMP \| DISEASES 6349 \| CCL3L1 \| DISEASES 834 \| CASP1 \| DISEASES 3586 \| IL10 \| DISEASES 55250 \| ELP2 \| DISEASES 4345 \| CD200 \| DISEASES 142678 \| MIB2 \| DISEASES 3620 \| IDO1 \| DISEASES 930 \| CD19 \| DISEASES 3684 \| ITGAM \| DISEASES 23601 \| CLEC5A \| DISEASES 567 \| B2M \| DISEASES 9728 \| SECISBP2L \| DISEASES 2323 \| FLT3LG \| DISEASES 102723508 \| KANTR \| DISEASES 100885779 \| LINC-ROR \| DISEASES 196475 \| RMST \| DISEASES 677767 \| SCARNA7 \| DISEASES 9298 \| SNORD31 \| DISEASES 692225 \| SNORD94 \| DISEASES 102659353 \| THRIL \| DISEASES
Locus	(Waiting for update.)

Disease ID	98
Disease	kawasaki disease
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:36) HP:0001082 \| Cholecystitis HP:0011675 \| Arrhythmia HP:0002829 \| Arthralgia HP:0001635 \| Congestive heart failure HP:0001974 \| Leukocytosis HP:0000988 \| Skin rash HP:0000952 \| Jaundice HP:0002014 \| Diarrhea HP:0002716 \| Lymphadenopathy HP:0006530 \| Interstitial pulmonary disease HP:0001945 \| Fever HP:0011658 \| Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis HP:0100586 \| Aseptic leukocyturia HP:0005111 \| Dilatation of the ascending aorta HP:0000969 \| Edema HP:0001654 \| Abnormality of the heart valves HP:0000508 \| Ptosis HP:0100776 \| Recurrent pharyngitis HP:0000093 \| Proteinuria HP:0000737 \| Irritability HP:0100643 \| Abnormality of nail color HP:0012378 \| Fatigue HP:0002633 \| Vasculitis HP:0000509 \| Conjunctivitis HP:0001369 \| Arthritis HP:0001701 \| Pericarditis HP:0002017 \| Nausea and vomiting HP:0100825 \| Cheilitis HP:0012115 \| Hepatitis HP:0006824 \| Cranial nerve paralysis HP:0000206 \| Glossitis HP:0012819 \| Myocarditis HP:0001287 \| Meningitis HP:0002027 \| Abdominal pain HP:0002076 \| Migraine HP:0010783 \| Erythema
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:47) HP:0002617 \| Aneurysmal dilatation \| 52 HP:0012819 \| Myocarditis \| 5 HP:0001945 \| Fever \| 5 HP:0001658 \| Myocardial infarction \| 5 HP:0002633 \| Vasculitis \| 4 HP:0002621 \| Atherosclerosis \| 3 HP:0000969 \| Dropsy \| 3 HP:0001677 \| Coronary artery disease \| 3 HP:0011855 \| Pharyngeal edema \| 3 HP:0012085 \| High urine neutrophil count \| 2 HP:0000010 \| Frequent urinary tract infections \| 2 HP:0030005 \| Capillary leak \| 2 HP:0002716 \| Lymph node hyperplasia \| 2 HP:0000100 \| Nephrosis \| 2 HP:0001067 \| Neurofibromas \| 1 HP:0003613 \| Antiphospholipid antibodies \| 1 HP:0012229 \| Cerebrospinal fluid pleocytosis \| 1 HP:0002576 \| Intussusception \| 1 HP:0010628 \| Facial palsy, unilateral or bilateral \| 1 HP:0003006 \| Neuroblastoma \| 1 HP:0100658 \| Bacterial infection of skin \| 1 HP:0001890 \| Autoimmune hemolytic anemia \| 1 HP:0001954 \| Increased body temperature, episodic \| 1 HP:0001369 \| Arthritis \| 1 HP:0030149 \| Cardiovascular shock \| 1 HP:0001643 \| Persistent ductus arteriosus \| 1 HP:0004944 \| Cerebral artery aneurysm \| 1 HP:0100512 \| Vitamin D deficiency \| 1 HP:0001250 \| Seizures \| 1 HP:0004929 \| Coronary artherosclerosis \| 1 HP:0012089 \| Arteritis \| 1 HP:0002092 \| Pulmonary artery hypertension \| 1 HP:0004389 \| Intestinal pseudo-obstruction \| 1 HP:0001878 \| Haemolytic anaemia \| 1 HP:0000979 \| Purpura \| 1 HP:0100749 \| Thoracic pain \| 1 HP:0000822 \| Hypertension \| 1 HP:0000739 \| Anxiety \| 1 HP:0010783 \| Erythema \| 1 HP:0000407 \| sensorineural hearing loss \| 1 HP:0002664 \| Neoplasia \| 1 HP:0012531 \| Pain \| 1 HP:0004943 \| Accelerated atherosclerosis \| 1 HP:0002754 \| Bone infection \| 1 HP:0011675 \| Arrhythmias \| 1 HP:0000112 \| Nephropathy \| 1 HP:0001733 \| Pancreatic inflammation \| 1

Disease ID	98
Disease	kawasaki disease
Manually Symptom	UMLS \| Name(Total Manually Symptoms:115) C2632116 \| stenosis C2364133 \| infection C2364118 \| weakness C2108112 \| ventricular fibrillation C2063729 \| multiple coronary aneurysms C2004489 \| regurgitation C1963274 \| vasculitis C1963211 \| pericarditis C1963198 \| pancreatitis C1962971 \| myocarditis C1956346 \| coronary artery disease C1866956 \| aortic root dilation C1720771 \| hydrocele C1611280 \| allergy C1611184 \| coronary artery calcification C1565662 \| acute renal insufficiency C1550639 \| fistula C1521999 \| acute myocardial infarction C1410758 \| valvulitis C1402315 \| vascular lesions C1393529 \| vascular complications C1318520 \| necrotizing vasculitis C1313980 \| ischemic heart disease C1142514 \| asymptomatic cerebral infarction C0876991 \| haemophagocytosis C0869523 \| carditis C0856760 \| bilateral renal artery stenosis C0856169 \| endothelial dysfunction C0836924 \| thrombocytosis C0752303 \| urological manifestations C0746982 \| obstructive disease C0719874 \| diaper rash C0585110 \| hemorrhagic pleural effusion C0425045 \| sudden infant death C0424755 \| fever C0340291 \| silent myocardial ischemia C0272410 \| splenitis C0271355 \| lateral rectus palsy C0268747 \| diffuse mesangial sclerosis C0264684 \| coronary arteritis C0243050 \| cardiovascular abnormalities C0242231 \| coronary stenosis C0242231 \| coronary stenoses C0242231 \| coronary artery stenosis C0242084 \| ruptured cerebral aneurysm C0234959 \| panarteritis C0221505 \| brain lesions C0162529 \| ischemic colitis C0162291 \| retinal ischemia C0152445 \| gallbladder hydrops C0151814 \| coronary artery occlusion C0151744 \| myocardial ischemia C0149881 \| epididymo-orchitis C0149678 \| epstein-barr virus infection C0087086 \| thrombi C0085655 \| polymyositis C0085273 \| parvovirus b19 infection C0043144 \| wheezing C0042165 \| anterior uveitis C0041349 \| tubulointerstitial nephritis C0040034 \| thrombocytopenia C0038449 \| arterial stenosis C0037284 \| skin lesions C0037284 \| skin lesion C0037090 \| pulmonary symptoms C0036572 \| convulsion C0034359 \| pyuria C0033117 \| priapism C0031157 \| peritonsillar abscess C0027947 \| neutropenia C0027726 \| nephrotic syndrome C0027121 \| myositis C0027051 \| myocardial infarction (mi) C0027051 \| myocardial infarction C0026691 \| mucocutaneous lymph node syndrome C0026266 \| mitral regurgitation C0025309 \| meningoencephalitis C0022660 \| acute renal failure C0022660 \| acute kidney failure C0021847 \| intestinal pseudoobstruction C0021308 \| infarction C0020625 \| hyponatremia C0019061 \| hemolytic uremic syndrome C0018991 \| hemiplegia C0018784 \| sensorineural hearing loss C0017658 \| glomerulonephritis C0017086 \| gangrene C0015469 \| facial palsy C0015469 \| facial nerve paralysis C0015469 \| facial nerve palsy C0015230 \| rash C0014038 \| encephalitis C0011615 \| atopic dermatitis C0010072 \| coronary thrombosis C0010072 \| coronary artery thrombosis C0010068 \| coronary disease C0010051 \| coronary artery aneurysms C0010051 \| coronary artery aneurysm C0010051 \| coronary aneurysms C0010051 \| coronary aneurysm C0008370 \| cholestasis C0008149 \| chlamydia infections C0007570 \| coeliac disease C0007177 \| cardiac tamponade C0003864 \| arthritis C0003615 \| appendicitis C0003504 \| aortic valve insufficiency C0003504 \| aortic regurgitation C0002963 \| vasospastic angina C0002940 \| aneurysms C0002940 \| aneurysm C0002890 \| leukoerythroblastosis C0002880 \| autoimmune hemolytic anemia C0001486 \| adenovirus infection C0001197 \| acrodermatitis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:33) C0002940 \| aneurysms \| 30 C0002940 \| aneurysm \| 22 C0010051 \| coronary artery aneurysm \| 22 C0010051 \| coronary aneurysm \| 15 C0010051 \| coronary artery aneurysms \| 9 C0010051 \| coronary aneurysms \| 6 C0027059 \| myocarditis \| 5 C0021308 \| infarction \| 5 C0009450 \| infection \| 5 C0015967 \| fever \| 5 C0042384 \| vasculitis \| 4 C0027051 \| myocardial infarction \| 4 C0009814 \| stenosis \| 3 C0155626 \| acute myocardial infarction \| 3 C0027726 \| nephrotic syndrome \| 2 C0010068 \| coronary artery disease \| 2 C1393529 \| vascular complications \| 2 C0034359 \| pyuria \| 2 C0856169 \| endothelial dysfunction \| 1 C0010072 \| coronary artery thrombosis \| 1 C0264684 \| coronary arteritis \| 1 C0030305 \| pancreatitis \| 1 C0027051 \| myocardial infarction (mi) \| 1 C0002880 \| autoimmune hemolytic anemia \| 1 C0037284 \| skin lesion \| 1 C0001197 \| acrodermatitis \| 1 C0151744 \| ischemic heart disease \| 1 C0003864 \| arthritis \| 1 C0015464 \| facial palsy \| 1 C0010068 \| coronary disease \| 1 C0018784 \| sensorineural hearing loss \| 1 C0242084 \| ruptured cerebral aneurysm \| 1 C0038644 \| sudden infant death \| 1

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

All Snps(Total Genotypes:55)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs10129255	21326860	28461	IGHV1-69	umls:C0026691	GAD	[Identification of novel susceptibility Loci for kawasaki disease in a Han chinese population by a genome-wide association study.]	0.002367032	2011	NA	14	106767970	C	T
rs12722477	18976687	3135	HLA-G	umls:C0026691	BeFree	In the fine mapping of the HLA-G locus, in particular, a nonsynonymous SNP (C/A) of the HLA-G gene (rs12722477, Leu134Ile) was significantly associated with Kawasaki disease (OR = 3.23, 95% CI = 1.12-9.32).	0.005362824	2008	HLA-G	6	29828599	C	A
rs12901071	24652666	4088	SMAD3	umls:C0026691	BeFree	Additionally, Smad3 gene polymorphism (rs12901071) is well known to be associated with KD patients.	0.000814326	2013	SMAD3	15	67078051	A	G
rs1568657	21326860	53339	BTBD1	umls:C0026691	GAD	[Identification of novel susceptibility Loci for kawasaki disease in a Han chinese population by a genome-wide association study.]	0.002367032	2011	BTBD1	15	83057427	A	G
rs16849083	21326860	9276	COPB2	umls:C0026691	BeFree	Among these KD-associated SNPs three were close to the COPB2 (coatomer protein complex beta-2 subunit) gene: rs1873668 (p = 9.52×10⁻⁵), rs4243399 (p = 9.93×10⁻⁵), and rs16849083 (p = 9.93×10⁻⁵).	0.000271442	2011	RBP2;LOC100507291	3	139465437	C	T
rs17136627	23677057	3781	KCNN2	umls:C0026691	GWASCAT	Identification of KCNN2 as a susceptibility locus for coronary artery aneurysms in Kawasaki disease using genome-wide association analysis.	0.120271442	2013	KCNN2;LOC101927078	5	114463289	C	T
rs17136627	23677057	101927078	LOC101927078	umls:C0026691	GWASCAT	Identification of KCNN2 as a susceptibility locus for coronary artery aneurysms in Kawasaki disease using genome-wide association analysis.	0.12	2013	KCNN2;LOC101927078	5	114463289	C	T
rs17531088	19132087	254827	NAALADL2	umls:C0026691	GAD	[Significant associations of 40 SNPs and six haplotypes, identifying 31 genes, were replicated in an independent cohort of 583 predominantly Caucasian KD families, with NAALADL2 (rs17531088, p(combined) = 1.13 x 10(-6)) and ZFHX3 (rs7199343, p(combined) = 2.37 x 10(-6)) most significantly associated.]	0.122367032	2009	NAALADL2	3	175175985	C	T
rs17531088	19132087	254827	NAALADL2	umls:C0026691	GWASCAT	Significant associations of 40 SNPs and six haplotypes, identifying 31 genes, were replicated in an independent cohort of 583 predominantly Caucasian KD families, with NAALADL2 (rs17531088, p(combined) = 1.13 x 10(-6)) and ZFHX3 (rs7199343, p(combined) = 2.37 x 10(-6)) most significantly associated.	0.122367032	2009	NAALADL2	3	175175985	C	T
rs17667932	22446961	90390	MED30	umls:C0026691	GWASCAT	Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis.	0.122367032	2012	MED30	8	117537137	T	C
rs17667932	22446961	90390	MED30	umls:C0026691	GAD	[Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis.]	0.122367032	2012	MED30	8	117537137	T	C
rs1800872	17413867	3586	IL10	umls:C0026691	BeFree	The IL-10 (-627 A/C) promoter polymorphism may be associated with coronary aneurysms and low serum albumin in Korean children with Kawasaki disease.	0.016459603	2007	IL10	1	206773062	T	G
rs1800872	17413867	213	ALB	umls:C0026691	BeFree	The IL-10 (-627 A/C) promoter polymorphism may be associated with coronary aneurysms and low serum albumin in Korean children with Kawasaki disease.	0.000271442	2007	IL10	1	206773062	T	G
rs1801274	22081228	2212	FCGR2A	umls:C0026691	GWASCAT	Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease.	0.247177041	2011	FCGR2A	1	161509955	A	G
rs1801274	25093412	2212	FCGR2A	umls:C0026691	BeFree	A genetic variant rs1801274 in FCGR2A as a potential risk marker for Kawasaki disease: a case-control study and meta-analysis.	0.247177041	2014	FCGR2A	1	161509955	A	G
rs1801274	22081228	2212	FCGR2A	umls:C0026691	GAD	[Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease.]	0.247177041	2011	FCGR2A	1	161509955	A	G
rs1801274	24775607	2212	FCGR2A	umls:C0026691	BeFree	Absence of association of FCGR2A gene polymorphism rs1801274 with Kawasaki disease in Greek patients.	0.247177041	2016	FCGR2A	1	161509955	A	G
rs1801274	22446962	2212	FCGR2A	umls:C0026691	BeFree	We also replicated the association of a functional SNP of FCGR2A (rs1801274, P = 1.6 × 10(-6)) identified in a recently reported GWAS of Kawasaki disease.	0.247177041	2012	FCGR2A	1	161509955	A	G
rs1873668	21326860	9276	COPB2	umls:C0026691	BeFree	Among these KD-associated SNPs three were close to the COPB2 (coatomer protein complex beta-2 subunit) gene: rs1873668 (p = 9.52×10⁻⁵), rs4243399 (p = 9.93×10⁻⁵), and rs16849083 (p = 9.93×10⁻⁵).	0.000271442	2011	NA	3	139326219	T	G
rs2130392	22446962	79682	CENPU	umls:C0026691	GWASCAT	A genome-wide association study identifies three new risk loci for Kawasaki disease.	0.122367032	2012	CENPU	4	184718015	G	A
rs2130392	22446962	79682	CENPU	umls:C0026691	GAD	[A genome-wide association study identifies three new risk loci for Kawasaki disease.]	0.122367032	2012	CENPU	4	184718015	G	A
rs2233152	22446962	8190	MIA	umls:C0026691	GWASCAT	A genome-wide association study identifies three new risk loci for Kawasaki disease.	0.122367032	2012	MIA;MIA-RAB4B	19	40775111	G	A
rs2233152	22446962	100529262	MIA-RAB4B	umls:C0026691	GWASCAT	A genome-wide association study identifies three new risk loci for Kawasaki disease.	0.12	2012	MIA;MIA-RAB4B	19	40775111	G	A
rs2233152	22446962	8190	MIA	umls:C0026691	GAD	[A genome-wide association study identifies three new risk loci for Kawasaki disease.]	0.122367032	2012	MIA;MIA-RAB4B	19	40775111	G	A
rs2254546	22446962	83648	FAM167A	umls:C0026691	GAD	[A genome-wide association study identifies three new risk loci for Kawasaki disease.]	0.004734064	2012	NA	8	11486171	A	G
rs2290692	22361738	80271	ITPKC	umls:C0026691	BeFree	Single-nucleotide polymorphism rs2290692 in the 3'UTR of ITPKC associated with susceptibility to Kawasaki disease in a Han Chinese population.	0.248620127	2012	ITPKC;C19orf54	19	40740473	G	C,A
rs231775	21082224	1493	CTLA4	umls:C0026691	BeFree	CTLA-4, position 49 A/G polymorphism associated with coronary artery lesions in Kawasaki disease.	0.000271442	2011	CTLA4	2	203867991	A	G,T
rs2736340	22446961	83648	FAM167A	umls:C0026691	GAD	[Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis.]	0.004734064	2012	NA	8	11486464	C	T
rs28493229	22081228	80271	ITPKC	umls:C0026691	GAD	[Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease.]	0.248620127	2011	ADCK4;ITPKC	19	40718299	G	C
rs28493229	22081228	79934	ADCK4	umls:C0026691	GAD	[Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease.]	0.122367032	2011	ADCK4;ITPKC	19	40718299	G	C
rs28493229	20045869	80271	ITPKC	umls:C0026691	BeFree	ITPKC gene SNP rs28493229 and Kawasaki disease in Taiwanese children.	0.248620127	2010	ADCK4;ITPKC	19	40718299	G	C
rs28493229	23065250	80271	ITPKC	umls:C0026691	BeFree	A functional polymorphism, rs28493229, in ITPKC and risk of Kawasaki disease: an integrated meta-analysis.	0.248620127	2012	ADCK4;ITPKC	19	40718299	G	C
rs28493229	22081228	79934	ADCK4	umls:C0026691	GWASCAT	Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease.	0.122367032	2011	ADCK4;ITPKC	19	40718299	G	C
rs28493229	20805785	80271	ITPKC	umls:C0026691	BeFree	Clinical Implication of the C Allele of the ITPKC Gene SNP rs28493229 in Kawasaki Disease: Association With Disease Susceptibility and BCG Scar Reactivation.	0.248620127	2011	ADCK4;ITPKC	19	40718299	G	C
rs28493229	22081228	80271	ITPKC	umls:C0026691	GWASCAT	Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease.	0.248620127	2011	ADCK4;ITPKC	19	40718299	G	C
rs3025039	16645995	6817	SULT1A1	umls:C0026691	BeFree	An association with susceptibility to KD was observed with 2 of the 6 single-nucleotide polymorphisms analyzed in VEGF: -2594 A>C (rs699947) and the 236 bp 3' of STP C>T (rs3025039).	0.000271442	2006	VEGFA	6	43784799	C	T
rs3755724	19048177	7079	TIMP4	umls:C0026691	BeFree	Promoter polymorphism (rs3755724, -55C/T) of tissue inhibitor of metalloproteinase 4 (TIMP4) as a risk factor for Kawasaki disease with coronary artery lesions in a Korean population.	0.002638474	2009	SYN2;TIMP4	3	12159406	C	T
rs4243399	21326860	9276	COPB2	umls:C0026691	BeFree	Among these KD-associated SNPs three were close to the COPB2 (coatomer protein complex beta-2 subunit) gene: rs1873668 (p = 9.52×10⁻⁵), rs4243399 (p = 9.93×10⁻⁵), and rs16849083 (p = 9.93×10⁻⁵).	0.000271442	2011	NA	3	139332068	G	A
rs4776338	21127203	4088	SMAD3	umls:C0026691	BeFree	A SMAD3 haplotype associated with KD susceptibility replicated in 2 independent cohorts and an intronic single nucleotide polymorphism in a separate haplotype block was also strongly associated (A/G, rs4776338) (P=0.000022; odds ratio, 1.50; 95% confidence interval, 1.25 to 1.81).	0.000814326	2011	SMAD3	15	67067545	T	C
rs4804803	22629172	30835	CD209	umls:C0026691	BeFree	DC-SIGN (CD209) promoter -336 A/G (rs4804803) polymorphism associated with susceptibility of Kawasaki disease.	0.000542884	2012	CD209	19	7747847	A	G
rs4813003	22446962	958	CD40	umls:C0026691	GAD	[A genome-wide association study identifies three new risk loci for Kawasaki disease.]	0.126091273	2012	NA	20	46134645	C	T
rs549908	19288449	3606	IL18	umls:C0026691	BeFree	Interleukin-18 gene 105A/C genetic polymorphism is associated with the susceptibility of Kawasaki disease.	0.008001298	2009	IL18	11	112150193	T	A,G
rs617819	18810583	4314	MMP3	umls:C0026691	BeFree	Association of the matrix metalloproteinase-3 (-439C/G) promoter polymorphism with Kawasaki disease in Korean children.	0.010639772	2008	MMP3	11	102843985	C	G
rs699947	16645995	6817	SULT1A1	umls:C0026691	BeFree	An association with susceptibility to KD was observed with 2 of the 6 single-nucleotide polymorphisms analyzed in VEGF: -2594 A>C (rs699947) and the 236 bp 3' of STP C>T (rs3025039).	0.000271442	2006	VEGFA	6	43768652	A	C
rs7199343	19132087	463	ZFHX3	umls:C0026691	GAD	[Significant associations of 40 SNPs and six haplotypes, identifying 31 genes, were replicated in an independent cohort of 583 predominantly Caucasian KD families, with NAALADL2 (rs17531088, p(combined) = 1.13 x 10(-6)) and ZFHX3 (rs7199343, p(combined) = 2.37 x 10(-6)) most significantly associated.]	0.002367032	2009	ZFHX3	16	72975125	A	T
rs7251246	24621571	80271	ITPKC	umls:C0026691	BeFree	Single-nucleotide polymorphism rs7251246 in ITPKC is associated with susceptibility and coronary artery lesions in Kawasaki disease.	0.248620127	2014	ITPKC	19	40721201	C	T
rs72689236	21160486	836	CASP3	umls:C0026691	BeFree	CASP3 gene single-nucleotide polymorphism (rs72689236) and Kawasaki disease in Taiwanese children.	0.003452799	2011	NA	NA	NA	NA	NA
rs7604693	21221998	57162	PELI1	umls:C0026691	GAD	[These results implicate a locus in the 1p31 region and the PELI1 gene locus in the 2p13.3 region as susceptibility loci for KD and CALs, respectively.]	0.002638474	2011	PELI1	2	64122068	C	A
rs7656244	22446961	253017	TECRL	umls:C0026691	GWASCAT	Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis.	0.122367032	2012	TECRL	4	64304697	C	A
rs7656244	22446961	253017	TECRL	umls:C0026691	GAD	[Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis.]	0.122367032	2012	TECRL	4	64304697	C	A
rs838143	25101798	647076	BRD7P2	umls:C0026691	BeFree	SNP rs838143 in the 3'-untranslated region of the FUT1 gene (2.7 × 10(-5)) and rs9847915 in the intergenic region of LOC730109	BRD7P2 (6.81 × 10(-7)) were the top hits for KD susceptibility in additive and dominant models, respectively.	0.000271442	2014	FUT1;IZUMO1	19	48748498	G
rs838143	25101798	2523	FUT1	umls:C0026691	BeFree	SNP rs838143 in the 3'-untranslated region of the FUT1 gene (2.7 × 10(-5)) and rs9847915 in the intergenic region of LOC730109	BRD7P2 (6.81 × 10(-7)) were the top hits for KD susceptibility in additive and dominant models, respectively.	0.000271442	2014	FUT1;IZUMO1	19	48748498	G
rs9290065	22446961	151742	PPM1L	umls:C0026691	GAD	[Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis.]	0.002367032	2012	PPM1L	3	161059176	C	T
rs9847915	25101798	2523	FUT1	umls:C0026691	BeFree	SNP rs838143 in the 3'-untranslated region of the FUT1 gene (2.7 × 10(-5)) and rs9847915 in the intergenic region of LOC730109	BRD7P2 (6.81 × 10(-7)) were the top hits for KD susceptibility in additive and dominant models, respectively.	0.000271442	2014	IL12A-AS1	3	160079403	A
rs9847915	25101798	647076	BRD7P2	umls:C0026691	BeFree	SNP rs838143 in the 3'-untranslated region of the FUT1 gene (2.7 × 10(-5)) and rs9847915 in the intergenic region of LOC730109	BRD7P2 (6.81 × 10(-7)) were the top hits for KD susceptibility in additive and dominant models, respectively.	0.000271442	2014	IL12A-AS1	3	160079403	A

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:3)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0026691	carbamazepine	D002220	298-46-4	mucocutaneous lymph node syndrome	MESH:D009080	marker/mechanism	3136432
C0026691	griseofulvin	D006118	126-07-8	mucocutaneous lymph node syndrome	MESH:D009080	marker/mechanism	8403486
C0026691	phenytoin	D010672	57-41-0	mucocutaneous lymph node syndrome	MESH:D009080	marker/mechanism	428254

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

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