PedAM

Pediatric Disease Annotations & Medicines


	narcolepsy

Disease ID	121
Disease	narcolepsy
Definition	A condition characterized by recurrent episodes of daytime somnolence and lapses in consciousness (microsomnias) that may be associated with automatic behaviors and AMNESIA. CATAPLEXY; SLEEP PARALYSIS, and hypnagogic HALLUCINATIONS frequently accompany narcolepsy. The pathophysiology of this disorder includes sleep-onset rapid eye movement (REM) sleep, which normally follows stage III or IV sleep. (From Neurology 1998 Feb;50(2 Suppl 1):S2-S7)
Synonym	excessive uncontrollable daytime sleepiness gelineau syndrome gelineau's syndrome gelineau's syndromes gelineaus syndrome narcolepsies narcolepsy (disorder) narcolepsy [disease/finding] narcolepsy disorder narcolepsy nos narcoleptic syndrome narcoleptic syndromes paroxysmal sleep sleep, paroxysmal syndrome, gelineau syndrome, gelineau's syndrome, narcoleptic syndromes, gelineau's syndromes, narcoleptic
DOID	DOID:8986
UMLS	C0027404
MeSH	D009290
SNOMED-CT	SNOMEDCT_US_2016_09_01:60380001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:29) C0520679 \| obstructive sleep apnea \| 3 C0028754 \| obesity \| 3 C0021400 \| influenza \| 3 C0004134 \| ataxia \| 2 C0751772 \| rem sleep behavior disorder \| 2 C0030567 \| parkinson's disease \| 2 C0036341 \| schizophrenia \| 2 C0033975 \| psychosis \| 2 C0035258 \| restless legs syndrome \| 2 C0035258 \| restless legs \| 2 C0037315 \| sleep apnea \| 2 C0149931 \| migraines \| 1 C0003873 \| rheumatoid arthritis \| 1 C0851578 \| sleep disorders \| 1 C0149931 \| migraine \| 1 C0013261 \| duane's syndrome \| 1 C0026848 \| myopathy \| 1 C0751774 \| periodic limb movement \| 1 C0003469 \| anxiety disorders \| 1 C0028768 \| obsessive-compulsive disorder \| 1 C0003469 \| anxiety disorder \| 1 C0003467 \| anxiety \| 1 C0037315 \| sleep disordered breathing \| 1 C0025362 \| mental retardation \| 1 C0011570 \| depression \| 1 C0021053 \| immune disorders \| 1 C0007758 \| cerebellar ataxia \| 1 C0016667 \| fragile-x syndrome \| 1 C0021053 \| immune disorder \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:24) HLA-DRB1 \| 3123 \| CTD_human;ORPHANET;GHR TNF \| 7124 \| GHR TRA \| 6955 \| CTD_human;GWASCAT TRB \| 6957 \| GWASCAT HLA-DQA1 \| 3117 \| GHR SOCS2 \| 8835 \| CTD_human TAC1 \| 6863 \| CTD_human TNFRSF1B \| 7133 \| GHR HLA-DQB1 \| 3119 \| CTD_human;GWASCAT;GHR;ORPHANET SNORD105 \| 692229 \| GWASCAT TNFSF4 \| 7292 \| ORPHANET MOG \| 4340 \| ORPHANET P2RY11 \| 5032 \| CTD_human;ORPHANET HCRT \| 3060 \| ORPHANET PENK \| 5179 \| CTD_human ZNF365 \| 22891 \| GWASCAT;ORPHANET PPAN \| 56342 \| GWASCAT TRH \| 7200 \| CTD_human CHKB-CPT1B \| 386593 \| GWASCAT CHKB \| 1120 \| CTD_human;GWASCAT;GHR CTSH \| 1512 \| ORPHANET CPT1B \| 1375 \| CTD_human;GHR HCRTR2 \| 3062 \| CTD_human PPAN-P2RY11 \| 692312 \| GWASCAT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:199) 18 \| ABAT \| infer 8310 \| ACOX3 \| infer 90 \| ACVR1 \| infer 102 \| ADAM10 \| infer 114 \| ADCY8 \| infer 128 \| ADH5 \| infer 8165 \| AKAP1 \| infer 9472 \| AKAP6 \| infer 224 \| ALDH3A2 \| infer 247 \| ALOX15B \| infer 240 \| ALOX5 \| infer 9546 \| APBA3 \| infer 323 \| APBB2 \| infer 79754 \| ASB13 \| infer 570 \| BAAT \| infer 573 \| BAG1 \| infer 55973 \| BCAP29 \| infer 79370 \| BCL2L14 \| infer 650 \| BMP2 \| infer 655 \| BMP7 \| infer 663 \| BNIP2 \| infer 672 \| BRCA1 \| infer 675 \| BRCA2 \| infer 775 \| CACNA1C \| infer 783 \| CACNB2 \| infer 23705 \| CADM1 \| infer 57118 \| CAMK1D \| infer 814 \| CAMK4 \| infer 841 \| CASP8 \| infer 6347 \| CCL2 \| infer 894 \| CCND2 \| infer 901 \| CCNG2 \| infer 9034 \| CCRL2 \| infer 929 \| CD14 \| infer 29126 \| CD274 \| infer 51654 \| CDK5RAP1 \| infer 1033 \| CDKN3 \| infer 375298 \| CERKL \| infer 10668 \| CGRRF1 \| infer 654377 \| CHES1L1 \| infer 1120 \| CHKB \| infer 1138 \| CHRNA5 \| infer 1141 \| CHRNB2 \| infer 9435 \| CHST2 \| infer 1312 \| COMT \| infer 1375 \| CPT1B \| infer 8738 \| CRADD \| infer 1384 \| CRAT \| infer 8727 \| CTNNAL1 \| infer 143884 \| CWF19L2 \| infer 1539 \| CYLC2 \| infer 1586 \| CYP17A1 \| infer 1555 \| CYP2B6 \| infer 1603 \| DAD1 \| infer 1612 \| DAPK1 \| infer 1630 \| DCC \| infer 123099 \| DEGS2 \| infer 1607 \| DGKB \| infer 374407 \| DNAJB13 \| infer 8448 \| DOC2A \| infer 1812 \| DRD1 \| infer 1813 \| DRD2 \| infer 1778 \| DYNC1H1 \| infer 55531 \| ELMOD1 \| infer 2059 \| EPS8 \| infer 2170 \| FABP3 \| infer 131177 \| FAM3D \| infer 9982 \| FGFBP1 \| infer 2271 \| FH \| infer 2549 \| GAB1 \| infer 2550 \| GABBR1 \| infer 8484 \| GALR3 \| infer 2620 \| GAS2 \| infer 151449 \| GDF7 \| infer 2668 \| GDNF \| infer 28964 \| GIT1 \| infer 165829 \| GPR156 \| infer 11245 \| GPR176 \| infer 2830 \| GPR6 \| infer 2903 \| GRIN2A \| infer 2869 \| GRK5 \| infer 2965 \| GTF2H1 \| infer 3060 \| HCRT \| infer 10114 \| HIPK3 \| infer 3117 \| HLA-DQA1 \| infer 3118 \| HLA-DQA2 \| infer 3119 \| HLA-DQB1 \| infer 3123 \| HLA-DRB1 \| infer 3125 \| HLA-DRB3 \| infer 3126 \| HLA-DRB4 \| infer 3127 \| HLA-DRB5 \| infer 51144 \| HSD17B12 \| infer 3293 \| HSD17B3 \| infer 3356 \| HTR2A \| infer 23308 \| ICOSLG \| infer 3452 \| IFNA21 \| infer 3459 \| IFNGR1 \| infer 3467 \| IFNW1 \| infer 3486 \| IGFBP3 \| infer 3550 \| IK \| infer 3552 \| IL1A \| infer 3689 \| ITGB2 \| infer 3778 \| KCNMA1 \| infer 9735 \| KNTC1 \| infer 3939 \| LDHA \| infer 51747 \| LUC7L3 \| infer 8379 \| MAD1L1 \| infer 6885 \| MAP3K7 \| infer 5594 \| MAPK1 \| infer 1432 \| MAPK14 \| infer 4170 \| MCL1 \| infer 4194 \| MDM4 \| infer 4210 \| MEFV \| infer 4353 \| MPO \| infer 932 \| MS4A3 \| infer 4598 \| MVK \| infer 4628 \| MYH10 \| infer 10783 \| NEK6 \| infer 10725 \| NFAT5 \| infer 4773 \| NFATC2 \| infer 22871 \| NLGN1 \| infer 3164 \| NR4A1 \| infer 391109 \| OR10K1 \| infer 128360 \| OR10T2 \| infer 128368 \| OR10Z1 \| infer 56656 \| OR2S2 \| infer 143496 \| OR52B4 \| infer 390066 \| OR52D1 \| infer 390078 \| OR52E6 \| infer 390321 \| OR6C1 \| infer 341568 \| OR8S1 \| infer 5018 \| OXA1L \| infer 5032 \| P2RY11 \| infer 117583 \| PARD3B \| infer 5081 \| PAX7 \| infer 27445 \| PCLO \| infer 255738 \| PCSK9 \| infer 11235 \| PDCD10 \| infer 5330 \| PLCB2 \| infer 51196 \| PLCE1 \| infer 257068 \| PLCXD2 \| infer 5426 \| POLE \| infer 10891 \| PPARGC1A \| infer 133522 \| PPARGC1B \| infer 5515 \| PPP2CA \| infer 5581 \| PRKCE \| infer 5583 \| PRKCH \| infer 5588 \| PRKCQ \| infer 5587 \| PRKD1 \| infer 5663 \| PSEN1 \| infer 5664 \| PSEN2 \| infer 5728 \| PTEN \| infer 9232 \| PTTG1 \| infer 5810 \| RAD1 \| infer 117584 \| RFFL \| infer 64326 \| RFWD2 \| infer 55183 \| RIF1 \| infer 864 \| RUNX3 \| infer 6273 \| S100A2 \| infer 949 \| SCARB1 \| infer 7356 \| SCGB1A1 \| infer 6342 \| SCP2 \| infer 6390 \| SDHB \| infer 6570 \| SLC18A1 \| infer 6571 \| SLC18A2 \| infer 6616 \| SNAP25 \| infer 114815 \| SORCS1 \| infer 6672 \| SP100 \| infer 200734 \| SPRED2 \| infer 10011 \| SRA1 \| infer 55620 \| STAP2 \| infer 9263 \| STK17A \| infer 8801 \| SUCLG2 \| infer 23213 \| SULF1 \| infer 8224 \| SYN3 \| infer 6910 \| TBX5 \| infer 6916 \| TBXAS1 \| infer 7006 \| TEC \| infer 7068 \| THRB \| infer 7100 \| TLR5 \| infer 387522 \| TMEM189-UBE2V1 \| infer 7124 \| TNF \| infer 8797 \| TNFRSF10A \| infer 7132 \| TNFRSF1A \| infer 7133 \| TNFRSF1B \| infer 8740 \| TNFSF14 \| infer 7292 \| TNFSF4 \| infer 112858 \| TP53RK \| infer 286016 \| TPI1P2 \| infer 7189 \| TRAF6 \| infer 28745 \| TRAJ10 \| infer 140691 \| TRIM69 \| infer 7222 \| TRPC3 \| infer 7227 \| TRPS1 \| infer 203068 \| TUBB \| infer 7385 \| UQCRC2 \| infer 7416 \| VDAC1 \| infer 22884 \| WDR37 \| infer 8840 \| WISP1 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:152) 57554 \| LRRC7 \| DISEASES 28951 \| TRIB2 \| DISEASES 23551 \| RASD2 \| DISEASES 328 \| APEX1 \| DISEASES 5173 \| PDYN \| DISEASES 140679 \| SLC32A1 \| DISEASES 6530 \| SLC6A2 \| DISEASES 1512 \| CTSH \| DISEASES 8797 \| TNFRSF10A \| DISEASES 57030 \| SLC17A7 \| DISEASES 54922 \| RASIP1 \| DISEASES 3111 \| HLA-DOA \| DISEASES 6697 \| SPR \| DISEASES 84618 \| NT5C1A \| DISEASES 80218 \| NAA50 \| DISEASES 84693 \| MCEE \| DISEASES 6779 \| STATH \| DISEASES 7166 \| TPH1 \| DISEASES 417 \| ART1 \| DISEASES 8666 \| EIF3G \| DISEASES 8864 \| PER2 \| DISEASES 4064 \| CD180 \| DISEASES 27348 \| TOR1B \| DISEASES 10060 \| ABCC9 \| DISEASES 10558 \| SPTLC1 \| DISEASES 57084 \| SLC17A6 \| DISEASES 2033 \| EP300 \| DISEASES 80303 \| EFHD1 \| DISEASES 51742 \| ARID4B \| DISEASES 5443 \| POMC \| DISEASES 8626 \| TP63 \| DISEASES 51083 \| GAL \| DISEASES 10180 \| RBM6 \| DISEASES 3067 \| HDC \| DISEASES 10261 \| IGSF6 \| DISEASES 4355 \| MPP2 \| DISEASES 6531 \| SLC6A3 \| DISEASES 402665 \| IGLON5 \| DISEASES 90226 \| UCN2 \| DISEASES 1404 \| HAPLN1 \| DISEASES 134864 \| TAAR1 \| DISEASES 1392 \| CRH \| DISEASES 7292 \| TNFSF4 \| DISEASES 181 \| AGRP \| DISEASES 6360 \| CCL16 \| DISEASES 3060 \| HCRT \| DISEASES 6571 \| SLC18A2 \| DISEASES 956 \| ENTPD3 \| DISEASES 7200 \| TRH \| DISEASES 57555 \| NLGN2 \| DISEASES 2353 \| FOS \| DISEASES 10125 \| RASGRP1 \| DISEASES 1375 \| CPT1B \| DISEASES 3952 \| LEP \| DISEASES 3350 \| HTR1A \| DISEASES 246213 \| SLC17A8 \| DISEASES 126129 \| CPT1C \| DISEASES 84938 \| ATG4C \| DISEASES 5032 \| P2RY11 \| DISEASES 3812 \| KIR3DL2 \| DISEASES 9145 \| SYNGR1 \| DISEASES 4600 \| MX2 \| DISEASES 9001 \| HAP1 \| DISEASES 5138 \| PDE2A \| DISEASES 51738 \| GHRL \| DISEASES 8926 \| SNURF \| DISEASES 1103 \| CHAT \| DISEASES 3363 \| HTR7 \| DISEASES 4862 \| NPAS2 \| DISEASES 3117 \| HLA-DQA1 \| DISEASES 11255 \| HRH3 \| DISEASES 5348 \| FXYD1 \| DISEASES 22953 \| P2RX2 \| DISEASES 114815 \| SORCS1 \| DISEASES 54898 \| ELOVL2 \| DISEASES 50618 \| ITSN2 \| DISEASES 7453 \| WARS \| DISEASES 26503 \| SLC17A5 \| DISEASES 8751 \| ADAM15 \| DISEASES 131177 \| FAM3D \| DISEASES 1786 \| DNMT1 \| DISEASES 7456 \| WIPF1 \| DISEASES 7004 \| TEAD4 \| DISEASES 3123 \| HLA-DRB1 \| DISEASES 1312 \| COMT \| DISEASES 9374 \| PPT2 \| DISEASES 26047 \| CNTNAP2 \| DISEASES 56259 \| CTNNBL1 \| DISEASES 5867 \| RAB4A \| DISEASES 56956 \| LHX9 \| DISEASES 5996 \| RGS1 \| DISEASES 6885 \| MAP3K7 \| DISEASES 1081 \| CGA \| DISEASES 6566 \| SLC16A1 \| DISEASES 58511 \| DNASE2B \| DISEASES 3062 \| HCRTR2 \| DISEASES 5730 \| PTGDS \| DISEASES 112858 \| TP53RK \| DISEASES 3061 \| HCRTR1 \| DISEASES 6572 \| SLC18A3 \| DISEASES 3118 \| HLA-DQA2 \| DISEASES 3127 \| HLA-DRB5 \| DISEASES 1388 \| ATF6B \| DISEASES 1740 \| DLG2 \| DISEASES 3105 \| HLA-A \| DISEASES 4340 \| MOG \| DISEASES 4129 \| MAOB \| DISEASES 414149 \| ACBD7 \| DISEASES 6990 \| DYNLT3 \| DISEASES 390598 \| SKOR1 \| DISEASES 3446 \| IFNA10 \| DISEASES 79091 \| METTL22 \| DISEASES 361 \| AQP4 \| DISEASES 2617 \| GARS \| DISEASES 4287 \| ATXN3 \| DISEASES 8814 \| CDKL1 \| DISEASES 4773 \| NFATC2 \| DISEASES 3269 \| HRH1 \| DISEASES 64223 \| MLST8 \| DISEASES 344148 \| NCKAP5 \| DISEASES 594857 \| NPS \| DISEASES 10039 \| PARP3 \| DISEASES 3119 \| HLA-DQB1 \| DISEASES 137886 \| UBXN2B \| DISEASES 1120 \| CHKB \| DISEASES 2570 \| GABRR2 \| DISEASES 114781 \| BTBD9 \| DISEASES 22891 \| ZNF365 \| DISEASES 3120 \| HLA-DQB2 \| DISEASES 201456 \| FBXO15 \| DISEASES 146713 \| RBFOX3 \| DISEASES 3113 \| HLA-DPA1 \| DISEASES 7124 \| TNF \| DISEASES 3106 \| HLA-B \| DISEASES 55074 \| OXR1 \| DISEASES 3115 \| HLA-DPB1 \| DISEASES 1132 \| CHRM4 \| DISEASES 34 \| ACADM \| DISEASES 10015 \| PDCD6IP \| DISEASES 2569 \| GABRR1 \| DISEASES 10687 \| PNMA2 \| DISEASES 64641 \| EBF2 \| DISEASES 60481 \| ELOVL5 \| DISEASES 56342 \| PPAN \| DISEASES 200959 \| GABRR3 \| DISEASES 100316868 \| HOTTIP \| DISEASES 727699 \| LINC00163 \| DISEASES 727701 \| LINC00165 \| DISEASES 338427 \| SNORD108 \| DISEASES 338429 \| SNORD109B \| DISEASES 692236 \| SNORD116@ \| DISEASES 347686 \| SNORD64 \| DISEASES
Locus	(Waiting for update.)

Disease ID	121
Disease	narcolepsy
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:29) HP:0002524 \| Cataplexy \| 180 HP:0001262 \| Somnolence \| 20 HP:0002189 \| Excessive daytime sleepiness \| 8 HP:0100786 \| Excessive sleepiness \| 5 HP:0001513 \| Obesity \| 3 HP:0002870 \| Obstructive sleep apnea \| 3 HP:0003470 \| Inability to move \| 2 HP:0001251 \| Ataxia \| 2 HP:0002104 \| Absence of spontaneous respiration \| 2 HP:0010535 \| Sleep apnea \| 2 HP:0002960 \| Autoimmune condition \| 2 HP:0000365 \| Hearing impairment \| 2 HP:0100753 \| Schizophrenia \| 2 HP:0000709 \| Psychosis \| 2 HP:0012452 \| Restless legs \| 2 HP:0000716 \| Depression \| 1 HP:0000738 \| Sensory hallucination \| 1 HP:0000739 \| Anxiety \| 1 HP:0012378 \| Fatigue \| 1 HP:0000708 \| Behavioral problems \| 1 HP:0001336 \| Myoclonic jerks \| 1 HP:0002171 \| Cerebral gliosis \| 1 HP:0002076 \| Migraine headaches \| 1 HP:0000722 \| Obsessive compulsive disorder \| 1 HP:0001370 \| Rheumatoid arthritis \| 1 HP:0002180 \| Neurodegeneration \| 1 HP:0001360 \| Single brain ventricle \| 1 HP:0001249 \| Mental retardation \| 1 HP:0003198 \| Myopathic changes \| 1

Disease ID	121
Disease	narcolepsy
Manually Symptom	UMLS \| Name(Total Manually Symptoms:36) C2712048 \| overweight C2364072 \| depression C2219848 \| daytime somnolence C1456784 \| paranoid psychosis C1417325 \| multiple sclerosis C1366535 \| diabetes insipidus C1313952 \| periodic breathing C1260922 \| breathing disorder C0917799 \| hypersomnia C0917799 \| excessive sleepiness C0871189 \| psychotic symptoms C0858618 \| dyschromatopsia C0751772 \| rem sleep behaviour disorder C0751772 \| rapid eye movement sleep behaviour disorder C0751229 \| hypersomnolence C0700201 \| sleep disturbance C0694563 \| excessive daytime somnolence C0694563 \| excessive daytime sleepiness C0679466 \| cognitive deficits C0520679 \| obstructive sleep apnea C0426980 \| motor symptom C0422833 \| ent symptoms C0235169 \| excitability C0233773 \| hypnagogic hallucinations C0086132 \| depressive symptoms C0037315 \| sleep apnea C0036341 \| schizophrenia C0035258 \| restless legs syndrome C0033975 \| psychosis C0033845 \| pseudotumor cerebri C0030975 \| perceptual disorders C0030508 \| parasomnias C0018524 \| hallucinations C0013473 \| eating disorders C0007384 \| cataplexy C0003469 \| anxiety disorders
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:19) C0007384 \| cataplexy \| 180 C0694563 \| excessive daytime sleepiness \| 8 C0917799 \| excessive sleepiness \| 4 C0871189 \| psychotic symptoms \| 3 C0520679 \| obstructive sleep apnea \| 3 C0235169 \| excitability \| 2 C0036341 \| schizophrenia \| 2 C0497406 \| overweight \| 2 C0035258 \| restless legs syndrome \| 2 C0033975 \| psychosis \| 2 C0037315 \| sleep apnea \| 2 C2219848 \| daytime somnolence \| 1 C0694563 \| excessive daytime somnolence \| 1 C0751772 \| rapid eye movement sleep behaviour disorder \| 1 C0003469 \| anxiety disorders \| 1 C0917799 \| hypersomnia \| 1 C0011570 \| depression \| 1 C0018524 \| hallucinations \| 1 C0751772 \| rem sleep behaviour disorder \| 1

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

All Snps(Total Genotypes:26)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs10995245	24204295	22891	ZNF365	umls:C0027404	GWASCAT	Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic.	0.24	2013	ZNF365;LOC105378327	10	62631615	G	A
rs1154155	22177342	6955	TRA	umls:C0027404	BeFree	Chinese narcolepsy was strongly and dose dependently associated with TCRA (rs1154155C) and P2RY11 (rs2305795A) but not CPT1B/CHKB (rs5770917C) polymorphisms.	0.243181358	2012	NA	14	22533736	G	T
rs1154155	24204295	6955	TRA	umls:C0027404	GWASCAT	Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic.	0.243181358	2013	NA	14	22533736	G	T
rs1154155	20711174	6955	TRA	umls:C0027404	GWASCAT	Genome-wide association study identifies new HLA class II haplotypes strongly protective against narcolepsy.	0.243181358	2010	NA	14	22533736	G	T
rs1154155	19412176	6955	TRA	umls:C0027404	GWASCAT	Narcolepsy is strongly associated with the T-cell receptor alpha locus.	0.243181358	2009	NA	14	22533736	G	T
rs1154155	22177342	1120	CHKB	umls:C0027404	BeFree	Chinese narcolepsy was strongly and dose dependently associated with TCRA (rs1154155C) and P2RY11 (rs2305795A) but not CPT1B/CHKB (rs5770917C) polymorphisms.	0.243452799	2012	NA	14	22533736	G	T
rs1154155	22177342	1375	CPT1B	umls:C0027404	BeFree	Chinese narcolepsy was strongly and dose dependently associated with TCRA (rs1154155C) and P2RY11 (rs2305795A) but not CPT1B/CHKB (rs5770917C) polymorphisms.	0.123724241	2012	NA	14	22533736	G	T
rs1551570	24204295	692229	SNORD105	umls:C0027404	GWASCAT	Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic.	0.12	2013	PPAN;ANGPTL6;SNORD105;PPAN-P2RY11	19	10107354	C	T
rs1551570	24204295	692312	PPAN-P2RY11	umls:C0027404	GWASCAT	Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic.	0.12	2013	PPAN;ANGPTL6;SNORD105;PPAN-P2RY11	19	10107354	C	T
rs1551570	24204295	56342	PPAN	umls:C0027404	GWASCAT	Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic.	0.12	2013	PPAN;ANGPTL6;SNORD105;PPAN-P2RY11	19	10107354	C	T
rs2305795	21170044	5026	P2RX5	umls:C0027404	BeFree	We identify a SNP in the 3' untranslated region of P2RY11, the purinergic receptor subtype P2Y₁₁ gene, which is associated with narcolepsy (rs2305795, combined P = 6.1 × 10⁻¹⁰, odds ratio = 1.28, 95% CI 1.19-1.39, n = 5689).	0.000271442	2011	P2RY11;EIF3G;PPAN-P2RY11	19	10115376	G	A
rs2305795	22177342	6955	TRA	umls:C0027404	BeFree	Chinese narcolepsy was strongly and dose dependently associated with TCRA (rs1154155C) and P2RY11 (rs2305795A) but not CPT1B/CHKB (rs5770917C) polymorphisms.	0.243181358	2012	P2RY11;EIF3G;PPAN-P2RY11	19	10115376	G	A
rs2305795	22177342	1375	CPT1B	umls:C0027404	BeFree	Chinese narcolepsy was strongly and dose dependently associated with TCRA (rs1154155C) and P2RY11 (rs2305795A) but not CPT1B/CHKB (rs5770917C) polymorphisms.	0.123724241	2012	P2RY11;EIF3G;PPAN-P2RY11	19	10115376	G	A
rs2305795	22177342	1120	CHKB	umls:C0027404	BeFree	Chinese narcolepsy was strongly and dose dependently associated with TCRA (rs1154155C) and P2RY11 (rs2305795A) but not CPT1B/CHKB (rs5770917C) polymorphisms.	0.243452799	2012	P2RY11;EIF3G;PPAN-P2RY11	19	10115376	G	A
rs2854536	24204295	6957	TRB	umls:C0027404	GWASCAT	Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic.	0.12	2013	NA	7	142357119	C	T
rs2858884	20711174	3119	HLA-DQB1	umls:C0027404	GAD	[Genome-wide association study identifies new HLA class II haplotypes strongly protective against narcolepsy.]	0.40901156	2010	NA	6	32732306	A	C
rs5770917	22177342	28755	TRAC	umls:C0027404	BeFree	The study extends on the observation of a strong multiethnic association of polymorphisms in the TCRA and P2RY11 with narcolepsy, but does not confirm the association of CPT1B/CHKB (rs5770917) in the Chinese population.	0.000271442	2012	CHKB;CPT1B;CHKB-CPT1B	22	50578924	T	C
rs5770917	18820697	386593	CHKB-CPT1B	umls:C0027404	GWASCAT	Variant between CPT1B and CHKB associated with susceptibility to narcolepsy.	0.12	2008	CHKB;CPT1B;CHKB-CPT1B	22	50578924	T	C
rs5770917	22177342	6955	TRA	umls:C0027404	BeFree	Chinese narcolepsy was strongly and dose dependently associated with TCRA (rs1154155C) and P2RY11 (rs2305795A) but not CPT1B/CHKB (rs5770917C) polymorphisms.	0.243181358	2012	CHKB;CPT1B;CHKB-CPT1B	22	50578924	T	C
rs5770917	22177342	1375	CPT1B	umls:C0027404	BeFree	Chinese narcolepsy was strongly and dose dependently associated with TCRA (rs1154155C) and P2RY11 (rs2305795A) but not CPT1B/CHKB (rs5770917C) polymorphisms.	0.123724241	2012	CHKB;CPT1B;CHKB-CPT1B	22	50578924	T	C
rs5770917	18820697	1120	CHKB	umls:C0027404	GAD	[Variant between CPT1B and CHKB associated with susceptibility to narcolepsy.]	0.243452799	2008	CHKB;CPT1B;CHKB-CPT1B	22	50578924	T	C
rs5770917	22177342	1120	CHKB	umls:C0027404	BeFree	Chinese narcolepsy was strongly and dose dependently associated with TCRA (rs1154155C) and P2RY11 (rs2305795A) but not CPT1B/CHKB (rs5770917C) polymorphisms.	0.243452799	2012	CHKB;CPT1B;CHKB-CPT1B	22	50578924	T	C
rs5770917	18820697	1120	CHKB	umls:C0027404	GWASCAT	Variant between CPT1B and CHKB associated with susceptibility to narcolepsy.	0.243452799	2008	CHKB;CPT1B;CHKB-CPT1B	22	50578924	T	C
rs5770917	18820697	1375	CPT1B	umls:C0027404	GAD	[Variant between CPT1B and CHKB associated with susceptibility to narcolepsy.]	0.123724241	2008	CHKB;CPT1B;CHKB-CPT1B	22	50578924	T	C
rs5770917	22177342	5032	P2RY11	umls:C0027404	BeFree	The study extends on the observation of a strong multiethnic association of polymorphisms in the TCRA and P2RY11 with narcolepsy, but does not confirm the association of CPT1B/CHKB (rs5770917) in the Chinese population.	0.242909916	2012	CHKB;CPT1B;CHKB-CPT1B	22	50578924	T	C
rs9274477	24204295	3119	HLA-DQB1	umls:C0027404	GWASCAT	Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic.	0.40901156	2013	NA	NA	NA	NA	NA

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

GWASdb Snp Trait(Total Genotypes:4)
CHR	POS	SNPID	REF	ALT	ORI_SNPID	PMID	P_VALUE	P_VALUE_TEXT	OR/BETA	CI95_TEXT	GWAS_INITIAL_SAMPLE_SIZE	SUB_POPULATION	SUPER_POPULATION	GWAS_TRAIT	HPO_ID	HPO_TERM	DO_ID	DO_TERM	MESH_ID	MESH_TERM	EFO_ID	EFO_TERM	DOLITE_TERM	RISK_ALLELE	PUBLICATION_TYPE	AA	GENE_SYMBOL	TYPE	REFGENE
8	59324162	rs2859998	G	A	rs2859998	23496005	1.00E-07	Age EDS onset	4.41	[NA] unit decrease	585 European ancestry cases	European(585)	ALL(585)	EUR(585)	ALL(585)	Narcolepsy with cataplexy	HPOID:0002524	HPOID:0100786	Cataplexy	Hypersomnia	DOID:8986	narcolepsy	NA	NA	NA	NA	Narcolepsy	NA	Research Support, Non-U.S. Gov't
12	3164923	rs12425451	C	T	rs12425451	23496005	2.00E-07	Age cataplexy onset	6.79	[NA] unit decrease	585 European ancestry cases	European(585)	ALL(585)	EUR(585)	ALL(585)	Narcolepsy with cataplexy	HPOID:0002524	HPOID:0100786	Cataplexy	Hypersomnia	DOID:8986	narcolepsy	NA	NA	NA	NA	Narcolepsy	NA	Research Support, Non-U.S. Gov't
19	32158464	rs16966122	A	G	rs16966122	23496005	2.00E-06	ESS	1.6	[NA] unit decrease	585 European ancestry cases	European(585)	ALL(585)	EUR(585)	ALL(585)	Narcolepsy with cataplexy	HPOID:0002524	HPOID:0100786	Cataplexy	Hypersomnia	DOID:8986	narcolepsy	NA	NA	NA	NA	Narcolepsy	NA	Research Support, Non-U.S. Gov't
20	47379811	rs2426087	G	A	rs2426087	23496005	2.00E-06	SE	10.46	[NA] unit increase	585 European ancestry cases	European(585)	ALL(585)	EUR(585)	ALL(585)	Narcolepsy with cataplexy	HPOID:0002524	HPOID:0100786	Cataplexy	Hypersomnia	DOID:8986	narcolepsy	NA	NA	NA	NA	Narcolepsy	NA	Research Support, Non-U.S. Gov't

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

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0100543	Cognitive impairment	MP:0011250	abdominal situs ambiguus;HP:0007641	Dyschromatopsia

Chemical(Total Drugs:8)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0027404	amphetamine	D000661	300-62-9	narcolepsy	MESH:D009290	marker/mechanism	2845442
C0027404	amphetamine	D000661	300-62-9	narcolepsy	MESH:D009290	therapeutic	2048132
C0027404	mazindol	D008454	22232-71-9	narcolepsy	MESH:D009290	therapeutic	3809694
C0027404	methylphenidate	D008774	113-45-1	narcolepsy	MESH:D009290	marker/mechanism	22470460
C0027404	methylphenidate	D008774	113-45-1	narcolepsy	MESH:D009290	therapeutic	15038480
C0027404	modafinil	C048833	68693-11-8	narcolepsy	MESH:D009290	therapeutic	11879175
C0027404	morphine	D009020	57-27-2	narcolepsy	MESH:D009290	marker/mechanism	6107628
C0027404	pentobarbital	D010424	76-74-4	narcolepsy	MESH:D009290	marker/mechanism	21061460

FDA approved drug and dosage information(Total Drugs:7)
DiseaseID	Drug_name	active_ingredients	strength	Dosage Form/Route	Marketing Status	TE code	RLD	RS
MESH:D009290	daytrana	methylphenidate	10MG/9HR (1.1MG/HR)	FILM, EXTENDED RELEASE;TRANSDERMAL	Prescription	None	Yes	No
MESH:D009290	daytrana	methylphenidate	10MG/9HR (1.1MG/HR)	FILM, EXTENDED RELEASE;TRANSDERMAL	Prescription	None	Yes	No
MESH:D009290	daytrana	methylphenidate	10MG/9HR (1.1MG/HR)	FILM, EXTENDED RELEASE;TRANSDERMAL	Prescription	None	Yes	No
MESH:D009290	daytrana	methylphenidate	10MG/9HR (1.1MG/HR)	FILM, EXTENDED RELEASE;TRANSDERMAL	Prescription	None	Yes	No
MESH:D009290	daytrana	methylphenidate	10MG/9HR (1.1MG/HR)	FILM, EXTENDED RELEASE;TRANSDERMAL	Prescription	None	Yes	No
MESH:D009290	daytrana	methylphenidate	10MG/9HR (1.1MG/HR)	FILM, EXTENDED RELEASE;TRANSDERMAL	Prescription	None	Yes	No
MESH:D009290	provigil	modafinil	100MG	TABLET;ORAL	Prescription	AB	Yes	No

FDA labeling changes(Total Drugs:7)
DiseaseID	Pediatric_Labeling_Date	Trade_Name	Generic_Name_or_Proper_Name	Indications Studied	Label Changes Summary	Product Labeling	BPCA(B)	PREA(P)	BPCA(B) and PREA(P)	Pediatric Rule (R)	Sponsor	Pediatric Exclusivity Granted Date	NNPS
MESH:D009290	6/4/2006	daytrana	methylphenidate	ADHD	Summary is pending	Labeling	-	P	-	-	Shire	-	FALSE'
MESH:D009290	6/4/2006	daytrana	methylphenidate	ADHD	Summary is pending	Labeling	-	P	-	-	Shire	-	FALSE'
MESH:D009290	12/14/2009	daytrana	methylphenidate	Postmarketing safety study	Information added to Warnings and Adverse Reactions on skin reactions observed in a postmarketing dermal study in pediatric patients	Labeling	-	P	-	-	Shire	-	FALSE'
MESH:D009290	12/14/2009	daytrana	methylphenidate	Postmarketing safety study	Information added to Warnings and Adverse Reactions on skin reactions observed in a postmarketing dermal study in pediatric patients	Labeling	-	P	-	-	Shire	-	FALSE'
MESH:D009290	06/29/2010	daytrana	methylphenidate	ADHD	Expanded pediatric indication to include adolescent patients ages13-17 years The most commonly reported adverse reactions in a trial in patients 13-17 years included appetite decreased, nausea, insomnia, weight decreased, dizziness, abdominal pain, and anorexia. The majority of patients had erythema at the application site Information on PK parameters, Adverse Event profile and clinical studies	Labeling	-	P	-	-	Shire	-	FALSE'
MESH:D009290	06/29/2010	daytrana	methylphenidate	ADHD	Expanded pediatric indication to include adolescent patients ages13-17 years The most commonly reported adverse reactions in a trial in patients 13-17 years included appetite decreased, nausea, insomnia, weight decreased, dizziness, abdominal pain, and anorexia. The majority of patients had erythema at the application site Information on PK parameters, Adverse Event profile and clinical studies	Labeling	-	P	-	-	Shire	-	FALSE'
MESH:D009290	08/17/2007	provigil	modafinil	Narcolepsy	Modafinil is not approved for use in pediatric patients for any indication Safety and effectiveness were not demonstrated in a controlled 6-week study in 165 pediatric patients 5-17 years with narcolepsy Serious rash, including Stevens-Johnson Syndrome, requiring hospitalization and discontinuation of treatment has been reported in adults and children in association with the use of modafinil In the controlled and open-label clinical studies, treatment emergent adverse events of the psychiatric and nervous system included Tourettes syndrome, insomnia, hostility, increased cataplexy, increased hypnagogic hallucinations and suicidal ideation Information on safety, AEs and clinical study	Labeling	B	-	-	-	Cephalon, Inc	03/21/2006	FALSE'