PedAM

Pediatric Disease Annotations & Medicines


	neuromyelitis optica

Disease ID	56
Disease	neuromyelitis optica
Definition	A syndrome characterized by acute OPTIC NEURITIS; MYELITIS, TRANSVERSE; demyelinating and/or necrotizing lesions in the OPTIC NERVES and SPINAL CORD; and presence of specific autoantibodies to AQUAPORIN 4.
Synonym	devic dis devic disease devic neuromyelitis optica devic neuromyelitis opticas devic syndrome devic's disease devic's neuromyelitis optica devic's syndrome devics dis devics disease devics neuromyelitis optica devics syndrome disease, devic disease, devic's myelitis, optic neuritis in neuroencephalomyelopathy, optic neuromyelitis optica (disorder) neuromyelitis optica (nmo) spectrum disorder neuromyelitis optica (nmo) spectrum disorders neuromyelitis optica [disease/finding] neuromyelitis optica spectrum disorder neuromyelitis optica spectrum disorders neuromyelitis optica, devic neuromyelitis optica, devic's neuromyelitis opticas, devic nmo spectrum disorder nmo spectrum disorders ophthalmoneuromyelitis optic neuromyelitis smon - subacute myelo-optico-neuropathy syndrome, devic syndrome, devic's
Orphanet	ORPHANET:71211
DOID	DOID:8869
UMLS	C0027873
MeSH	D009471
SNOMED-CT	SNOMEDCT_US_2016_09_01:25044007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:58) C0027813 \| neuritis \| 9 C0029134 \| optic neuritis \| 8 C0026769 \| multiple sclerosis \| 6 C0026975 \| myelitis \| 5 C0021053 \| immune disease \| 5 C1527336 \| sjogren syndrome \| 5 C0009782 \| connective tissue disease \| 4 C1527336 \| sjogren's syndrome \| 4 C0409974 \| lupus erythematosus \| 3 C0024141 \| systemic lupus erythematosus \| 3 C0026896 \| myasthenia gravis \| 3 C0041296 \| tuberculosis \| 2 C0011570 \| depression \| 2 C0014038 \| encephalitis \| 2 C0029089 \| ophthalmoplegia \| 2 C0152134 \| internuclear ophthalmoplegia \| 2 C0036202 \| sarcoidosis \| 1 C0001824 \| agranulocytosis \| 1 C0036421 \| systemic sclerosis \| 1 C0007570 \| celiac disease \| 1 C0031117 \| peripheral neuropathy \| 1 C0021053 \| immune disorders \| 1 C0030807 \| pemphigus \| 1 C0019196 \| hepatitis c infection \| 1 C0011633 \| dermatomyositis \| 1 C0011603 \| dermatitis \| 1 C0019158 \| hepatitis \| 1 C0004623 \| bacterial infections \| 1 C0748540 \| limited cutaneous systemic sclerosis \| 1 C0020255 \| hydrocephalus \| 1 C0742472 \| cns lymphoma \| 1 C0042384 \| vasculitis \| 1 C0002880 \| autoimmune hemolytic anemia \| 1 C0041327 \| pulmonary tuberculosis \| 1 C0025309 \| meningoencephalitis \| 1 C0751878 \| cns vasculitis \| 1 C0004712 \| balo's concentric sclerosis \| 1 C0026272 \| mixed connective tissue disease \| 1 C0021053 \| immune disorder \| 1 C0002878 \| hemolytic anemia \| 1 C0030486 \| paraplegia \| 1 C0004623 \| bacterial infection \| 1 C0026654 \| moyamoya \| 1 C0002871 \| anemia \| 1 C0019360 \| zoster \| 1 C0026654 \| moyamoya disease \| 1 C0008049 \| varicella \| 1 C0242343 \| panhypopituitarism \| 1 C0021141 \| syndrome of inappropriate secretion of antidiuretic hormone \| 1 C0011608 \| dermatitis herpetiformis \| 1 C0456909 \| blindness \| 1 C1328840 \| autoimmune lymphoproliferative syndrome \| 1 C0034372 \| quadriplegia \| 1 C0152176 \| trochlear nerve palsy \| 1 C0021141 \| syndrome of inappropriate antidiuretic hormone secretion \| 1 C0027059 \| myocarditis \| 1 C0019196 \| hepatitis c \| 1 C0021400 \| influenza \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) MBP \| 4155 \| CTD_human GFAP \| 2670 \| CTD_human AQP4 \| 361 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 1581 \| CYP7A1 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:111) 23152 \| CIC \| DISEASES 359 \| AQP2 \| DISEASES 343 \| AQP8 \| DISEASES 366 \| AQP9 \| DISEASES 1440 \| CSF3 \| DISEASES 5957 \| RCVRN \| DISEASES 3458 \| IFNG \| DISEASES 3567 \| IL5 \| DISEASES 10804 \| GJB6 \| DISEASES 54795 \| TRPM4 \| DISEASES 2670 \| GFAP \| DISEASES 84077 \| C3orf20 \| DISEASES 3958 \| LGALS3 \| DISEASES 6737 \| TRIM21 \| DISEASES 4064 \| CD180 \| DISEASES 4284 \| MIP \| DISEASES 3569 \| IL6 \| DISEASES 3553 \| IL1B \| DISEASES 1991 \| ELANE \| DISEASES 939 \| CD27 \| DISEASES 402665 \| IGLON5 \| DISEASES 6506 \| SLC1A2 \| DISEASES 710 \| SERPING1 \| DISEASES 23037 \| PDZD2 \| DISEASES 2697 \| GJA1 \| DISEASES 5903 \| RANBP2 \| DISEASES 10563 \| CXCL13 \| DISEASES 56896 \| DPYSL5 \| DISEASES 115650 \| TNFRSF13C \| DISEASES 6285 \| S100B \| DISEASES 643 \| CXCR5 \| DISEASES 3060 \| HCRT \| DISEASES 362 \| AQP5 \| DISEASES 3889 \| KRT83 \| DISEASES 213 \| ALB \| DISEASES 4486 \| MST1R \| DISEASES 364 \| AQP7 \| DISEASES 23582 \| CCNDBP1 \| DISEASES 1581 \| CYP7A1 \| DISEASES 1495 \| CTNNA1 \| DISEASES 3627 \| CXCL10 \| DISEASES 3575 \| IL7R \| DISEASES 686 \| BTD \| DISEASES 2752 \| GLUL \| DISEASES 358 \| AQP1 \| DISEASES 4744 \| NEFH \| DISEASES 4179 \| CD46 \| DISEASES 9153 \| SLC28A2 \| DISEASES 1604 \| CD55 \| DISEASES 282679 \| AQP11 \| DISEASES 6764 \| ST5 \| DISEASES 363 \| AQP6 \| DISEASES 5032 \| P2RY11 \| DISEASES 716 \| C1S \| DISEASES 6900 \| CNTN2 \| DISEASES 30850 \| CDR2L \| DISEASES 9547 \| CXCL14 \| DISEASES 4835 \| NQO2 \| DISEASES 966 \| CD59 \| DISEASES 133491 \| C5orf47 \| DISEASES 3146 \| HMGB1 \| DISEASES 8741 \| TNFSF13 \| DISEASES 80095 \| ZNF606 \| DISEASES 3605 \| IL17A \| DISEASES 23114 \| NFASC \| DISEASES 273 \| AMPH \| DISEASES 3123 \| HLA-DRB1 \| DISEASES 79947 \| DHDDS \| DISEASES 26047 \| CNTNAP2 \| DISEASES 2705 \| GJB1 \| DISEASES 159 \| ADSS \| DISEASES 23596 \| OPN3 \| DISEASES 57165 \| GJC2 \| DISEASES 3766 \| KCNJ10 \| DISEASES 115352 \| FCRL3 \| DISEASES 3570 \| IL6R \| DISEASES 57120 \| GOPC \| DISEASES 6885 \| MAP3K7 \| DISEASES 965 \| CD58 \| DISEASES 959 \| CD40LG \| DISEASES 5223 \| PGAM1 \| DISEASES 9211 \| LGI1 \| DISEASES 9023 \| CH25H \| DISEASES 2833 \| CXCR3 \| DISEASES 1043 \| CD52 \| DISEASES 4593 \| MUSK \| DISEASES 3118 \| HLA-DQA2 \| DISEASES 10673 \| TNFSF13B \| DISEASES 64078 \| SLC28A3 \| DISEASES 1041 \| CDSN \| DISEASES 4340 \| MOG \| DISEASES 2262 \| GPC5 \| DISEASES 3456 \| IFNB1 \| DISEASES 51378 \| ANGPT4 \| DISEASES 4155 \| MBP \| DISEASES 361 \| AQP4 \| DISEASES 4099 \| MAG \| DISEASES 6696 \| SPP1 \| DISEASES 8887 \| TAX1BP1 \| DISEASES 344022 \| NOTO \| DISEASES 10437 \| IFI30 \| DISEASES 3267 \| AGFG1 \| DISEASES 23533 \| PIK3R5 \| DISEASES 7124 \| TNF \| DISEASES 3115 \| HLA-DPB1 \| DISEASES 3586 \| IL10 \| DISEASES 133396 \| IL31RA \| DISEASES 51428 \| DDX41 \| DISEASES 10687 \| PNMA2 \| DISEASES 84107 \| ZIC4 \| DISEASES 930 \| CD19 \| DISEASES
Locus	(Waiting for update.)

Disease ID	56
Disease	neuromyelitis optica
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:18) HP:0002152 \| Hyperproteinemia HP:0011893 \| Abnormal leukocyte count HP:0000836 \| Hyperthyroidism HP:0000739 \| Anxiety HP:0003474 \| Sensory impairment HP:0000572 \| Visual loss HP:0002516 \| Increased intracranial pressure HP:0003113 \| Hypochloremia HP:0002921 \| Abnormality of the cerebrospinal fluid HP:0001250 \| Seizures HP:0002273 \| Tetraparesis HP:0011277 \| Abnormality of the urinary system physiology HP:0030057 \| Autoimmune antibody positivity HP:0002017 \| Nausea and vomiting HP:0100543 \| Cognitive impairment HP:0100561 \| Spinal cord lesion HP:0002153 \| Hyperkalemia HP:0002459 \| Dysautonomia
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:48) HP:0002960 \| Autoimmune condition \| 9 HP:0100653 \| Optic neuritis \| 8 HP:0012486 \| Inflammation of spinal cord \| 5 HP:0012531 \| Pain \| 3 HP:0003473 \| Fatigable weakness \| 3 HP:0100570 \| Carcinoid tumor \| 2 HP:0000602 \| Ophthalmoplegia \| 2 HP:0002383 \| Encephalitis \| 2 HP:0000716 \| Depression \| 2 HP:0002725 \| Systemic lupus erythematosus \| 2 HP:0100543 \| Cognitive deficits \| 2 HP:0002268 \| Paroxysmal dystonia \| 2 HP:0030773 \| Internuclear ophthalmoplegia \| 2 HP:0012735 \| Coughing \| 1 HP:0000238 \| Nonsyndromal hydrocephalus \| 1 HP:0000618 \| Blindness \| 1 HP:0002346 \| Head tremor \| 1 HP:0001317 \| Abnormality of the cerebellum \| 1 HP:0007371 \| Atrophy/Degeneration of the corpus callosum \| 1 HP:0002059 \| Degeneration of cerebrum \| 1 HP:0001337 \| Tremor \| 1 HP:0100786 \| Excessive sleepiness \| 1 HP:0009830 \| Peripheral neuritis \| 1 HP:0003472 \| Hypocalcemic tetany \| 1 HP:0012532 \| Chronic pain \| 1 HP:0002445 \| Paralysis of all four limbs \| 1 HP:0000871 \| Panhypopituitarism \| 1 HP:0002664 \| Neoplasia \| 1 HP:0001278 \| Orthostatic hypotension \| 1 HP:0001890 \| Autoimmune hemolytic anemia \| 1 HP:0012234 \| Agranulocytosis \| 1 HP:0001258 \| Spastic paraplegia, lower limb \| 1 HP:0002633 \| Vasculitis \| 1 HP:0002180 \| Neurodegeneration \| 1 HP:0001878 \| Haemolytic anaemia \| 1 HP:0002721 \| Immunodeficiency \| 1 HP:0001903 \| Anemia \| 1 HP:0012115 \| Liver inflammation \| 1 HP:0012819 \| Myocarditis \| 1 HP:0010550 \| Paraplegia \| 1 HP:0011096 \| Demyelination \| 1 HP:0200123 \| Chronic liver inflammation \| 1 HP:0001268 \| Mental deterioration \| 1 HP:0002015 \| Swallowing difficulty \| 1 HP:0000989 \| pruritis \| 1 HP:0002608 \| Celiac disease \| 1 HP:0012378 \| Fatigue \| 1 HP:0007011 \| Superior oblique palsy \| 1

Disease ID	56
Disease	neuromyelitis optica
Manually Symptom	UMLS \| Name(Total Manually Symptoms:7) C1963179 \| nausea C1402315 \| vascular lesions C0694563 \| excessive daytime sleepiness C0039145 \| syringomyelia C0029134 \| optic neuritis C0027404 \| narcolepsy C0014070 \| encephalomyelitis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0029134 \| optic neuritis \| 8

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

All Snps(Total Genotypes:10)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1016140	24655566	361	AQP4	umls:C0027873	BeFree	Also, we deduced that the G allele of rs1016140 caused an increase of T cell activity, which in turn eased the access of AQP4 antibody into central nervous system (CNS) and ultimately leading to NMO development.	0.148551054	2014	CD58	1	116533925	G	T
rs12288280	22994200	7132	TNFRSF1A	umls:C0027873	BeFree	Logistic analyses revealed that one SNP in CD6 (rs12288280, P = 0.04) and three SNPs in TNFRSF1A (rs767455, rs4149577 and rs1800693, P = 0.01-0.03) were associated with NMO.	0.000542884	2012	CD6	11	60988884	G	T
rs1800693	24927785	7132	TNFRSF1A	umls:C0027873	BeFree	Among the 35 SNPs, only one, rs1800693 in the TNFRSF1A locus, was nominally associated with NMO (P = 0.045, OR = 1.550, 95% CI = 1.007-2.384).	0.000542884	2014	TNFRSF1A	12	6330843	T	C
rs1800693	22994200	7132	TNFRSF1A	umls:C0027873	BeFree	Logistic analyses revealed that one SNP in CD6 (rs12288280, P = 0.04) and three SNPs in TNFRSF1A (rs767455, rs4149577 and rs1800693, P = 0.01-0.03) were associated with NMO.	0.000542884	2012	TNFRSF1A	12	6330843	T	C
rs2282284	26402798	115352	FCRL3	umls:C0027873	BeFree	The Fc Receptor-Like 3 Polymorphisms (rs7528684, rs945635, rs3761959 and rs2282284) and The Risk of Neuromyelitis Optica in A Chinese Population.	0.000271442	2015	FCRL3	1	157678753	T	C
rs3761959	26402798	115352	FCRL3	umls:C0027873	BeFree	The Fc Receptor-Like 3 Polymorphisms (rs7528684, rs945635, rs3761959 and rs2282284) and The Risk of Neuromyelitis Optica in A Chinese Population.	0.000271442	2015	FCRL3	1	157699488	C	T
rs4149577	22994200	7132	TNFRSF1A	umls:C0027873	BeFree	Logistic analyses revealed that one SNP in CD6 (rs12288280, P = 0.04) and three SNPs in TNFRSF1A (rs767455, rs4149577 and rs1800693, P = 0.01-0.03) were associated with NMO.	0.000542884	2012	TNFRSF1A	12	6338356	G	A
rs7528684	26402798	115352	FCRL3	umls:C0027873	BeFree	The Fc Receptor-Like 3 Polymorphisms (rs7528684, rs945635, rs3761959 and rs2282284) and The Risk of Neuromyelitis Optica in A Chinese Population.	0.000271442	2015	FCRL3	1	157701026	A	G
rs767455	22994200	7132	TNFRSF1A	umls:C0027873	BeFree	Logistic analyses revealed that one SNP in CD6 (rs12288280, P = 0.04) and three SNPs in TNFRSF1A (rs767455, rs4149577 and rs1800693, P = 0.01-0.03) were associated with NMO.	0.000542884	2012	TNFRSF1A	12	6341779	T	C
rs945635	26402798	115352	FCRL3	umls:C0027873	BeFree	The Fc Receptor-Like 3 Polymorphisms (rs7528684, rs945635, rs3761959 and rs2282284) and The Risk of Neuromyelitis Optica in A Chinese Population.	0.000271442	2015	FCRL3	1	157700500	C	A,G

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

GWASdb Snp Trait(Total Genotypes:18)
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
1	38465315	rs4634868	G	A	rs4634868	19850125	4.70E-05	Neuromyelitis optica	NA	NA	53 Korean cases; 240 Korean controls	Korean(293)	ALL(293)	ASN(293)	ALL(293)	Inflammatory demyelinating disease	HPOID:0002143	Abnormality of the spinal cord	DOID:8869	neuromyelitis optica	NA	NA	NA	NA	Central nervous system disease	NA	Research Support, Non-U.S. Gov't	T	FHL3
1	97949431	rs4451581	A	C	rs4451581	19850125	2.10E-05	Neuromyelitis optica	NA	NA	53 Korean cases; 240 Korean controls	Korean(293)	ALL(293)	ASN(293)	ALL(293)	Inflammatory demyelinating disease	HPOID:0002143	Abnormality of the spinal cord	DOID:8869	neuromyelitis optica	NA	NA	NA	NA	Central nervous system disease	NA	Research Support, Non-U.S. Gov't	C	DPYD
1	211072392	rs1501562	C	T	rs1501562	19850125	1.60E-05	Neuromyelitis optica	NA	NA	53 Korean cases; 240 Korean controls	Korean(293)	ALL(293)	ASN(293)	ALL(293)	Inflammatory demyelinating disease	HPOID:0002143	Abnormality of the spinal cord	DOID:8869	neuromyelitis optica	NA	NA	NA	NA	Central nervous system disease	NA	Research Support, Non-U.S. Gov't	C	KCNH1
2	106366232	rs997522	G	A	rs997522	19850125	4.10E-05	Neuromyelitis optica	NA	NA	53 Korean cases; 240 Korean controls	Korean(293)	ALL(293)	ASN(293)	ALL(293)	Inflammatory demyelinating disease	HPOID:0002143	Abnormality of the spinal cord	DOID:8869	neuromyelitis optica	NA	NA	NA	NA	Central nervous system disease	NA	Research Support, Non-U.S. Gov't	G	NCK2
6	36165213	rs4713936	C	T	rs4713936	19850125	1.50E-05	Neuromyelitis optica	NA	NA	53 Korean cases; 240 Korean controls	Korean(293)	ALL(293)	ASN(293)	ALL(293)	Inflammatory demyelinating disease	HPOID:0002143	Abnormality of the spinal cord	DOID:8869	neuromyelitis optica	NA	NA	NA	NA	Central nervous system disease	NA	Research Support, Non-U.S. Gov't	C	BRPF3
6	137470756	rs10484798	T	C	rs10484798	19850125	8.00E-06	Neuromyelitis optica	NA	NA	53 Korean cases; 240 Korean controls	Korean(293)	ALL(293)	ASN(293)	ALL(293)	Inflammatory demyelinating disease	HPOID:0002143	Abnormality of the spinal cord	DOID:8869	neuromyelitis optica	NA	NA	NA	NA	Central nervous system disease	NA	Research Support, Non-U.S. Gov't	T	IL22RA2
7	146750254	rs6980283	G	T	rs6980283	19850125	1.20E-05	Neuromyelitis optica	NA	NA	53 Korean cases; 240 Korean controls	Korean(293)	ALL(293)	ASN(293)	ALL(293)	Inflammatory demyelinating disease	HPOID:0002143	Abnormality of the spinal cord	DOID:8869	neuromyelitis optica	NA	NA	NA	NA	Central nervous system disease	NA	Research Support, Non-U.S. Gov't	G	CNTNAP2
8	26717123	rs563097	A	G	rs563097	19850125	3.30E-05	Neuromyelitis optica	NA	NA	53 Korean cases; 240 Korean controls	Korean(293)	ALL(293)	ASN(293)	ALL(293)	Inflammatory demyelinating disease	HPOID:0002143	Abnormality of the spinal cord	DOID:8869	neuromyelitis optica	NA	NA	NA	NA	Central nervous system disease	NA	Research Support, Non-U.S. Gov't	T	ADRA1A
8	59410439	rs1457043	C	T	rs1457043	19850125	1.50E-05	Neuromyelitis optica	NA	NA	53 Korean cases; 240 Korean controls	Korean(293)	ALL(293)	ASN(293)	ALL(293)	Inflammatory demyelinating disease	HPOID:0002143	Abnormality of the spinal cord	DOID:8869	neuromyelitis optica	NA	NA	NA	NA	Central nervous system disease	NA	Research Support, Non-U.S. Gov't	A	CYP7A1
8	59412924	rs3808607	G	T	rs3808607	19850125	1.00E-04	Neuromyelitis optica	NA	NA	53 Korean cases; 240 Korean controls	Korean(293)	ALL(293)	ASN(293)	ALL(293)	Inflammatory demyelinating disease	HPOID:0002143	Abnormality of the spinal cord	DOID:8869	neuromyelitis optica	NA	NA	NA	NA	Central nervous system disease	NA	Research Support, Non-U.S. Gov't	G	CYP7A1
10	1674132	rs1909440	G	A	rs1909440	19850125	1.10E-05	Neuromyelitis optica	NA	NA	53 Korean cases; 240 Korean controls	Korean(293)	ALL(293)	ASN(293)	ALL(293)	Inflammatory demyelinating disease	HPOID:0002143	Abnormality of the spinal cord	DOID:8869	neuromyelitis optica	NA	NA	NA	NA	Central nervous system disease	NA	Research Support, Non-U.S. Gov't	G	ADARB2
10	1684797	rs4880897	G	T	rs4880897	19850125	1.20E-05	Neuromyelitis optica	NA	NA	53 Korean cases; 240 Korean controls	Korean(293)	ALL(293)	ASN(293)	ALL(293)	Inflammatory demyelinating disease	HPOID:0002143	Abnormality of the spinal cord	DOID:8869	neuromyelitis optica	NA	NA	NA	NA	Central nervous system disease	NA	Research Support, Non-U.S. Gov't	G	ADARB2
10	1705247	rs1909428	A	G	rs1909428	19850125	7.40E-06	Neuromyelitis optica	NA	NA	53 Korean cases; 240 Korean controls	Korean(293)	ALL(293)	ASN(293)	ALL(293)	Inflammatory demyelinating disease	HPOID:0002143	Abnormality of the spinal cord	DOID:8869	neuromyelitis optica	NA	NA	NA	NA	Central nervous system disease	NA	Research Support, Non-U.S. Gov't	A	ADARB2
13	52570728	rs732071	G	A	rs732071	19850125	3.00E-05	Neuromyelitis optica	NA	NA	53 Korean cases; 240 Korean controls	Korean(293)	ALL(293)	ASN(293)	ALL(293)	Inflammatory demyelinating disease	HPOID:0002143	Abnormality of the spinal cord	DOID:8869	neuromyelitis optica	NA	NA	NA	NA	Central nervous system disease	NA	Research Support, Non-U.S. Gov't	T	ATP7B
13	52593765	rs7320831	C	T	rs7320831	19850125	4.20E-05	Neuromyelitis optica	NA	NA	53 Korean cases; 240 Korean controls	Korean(293)	ALL(293)	ASN(293)	ALL(293)	Inflammatory demyelinating disease	HPOID:0002143	Abnormality of the spinal cord	DOID:8869	neuromyelitis optica	NA	NA	NA	NA	Central nervous system disease	NA	Research Support, Non-U.S. Gov't	T	ALG11
13	52601053	rs9526823	T	C	rs9526823	19850125	3.70E-05	Neuromyelitis optica	NA	NA	53 Korean cases; 240 Korean controls	Korean(293)	ALL(293)	ASN(293)	ALL(293)	Inflammatory demyelinating disease	HPOID:0002143	Abnormality of the spinal cord	DOID:8869	neuromyelitis optica	NA	NA	NA	NA	Central nervous system disease	NA	Research Support, Non-U.S. Gov't	C	UTP14C
13	113074228	rs1887649	G	T	rs1887649	19850125	4.30E-05	Neuromyelitis optica	NA	NA	53 Korean cases; 240 Korean controls	Korean(293)	ALL(293)	ASN(293)	ALL(293)	Inflammatory demyelinating disease	HPOID:0002143	Abnormality of the spinal cord	DOID:8869	neuromyelitis optica	NA	NA	NA	NA	Central nervous system disease	NA	Research Support, Non-U.S. Gov't	C	SPACA7
18	60027241	rs1805034	C	T	rs1805034	19850125	3.60E-05	Neuromyelitis optica	NA	NA	53 Korean cases; 240 Korean controls	Korean(293)	ALL(293)	ASN(293)	ALL(293)	Inflammatory demyelinating disease	HPOID:0002143	Abnormality of the spinal cord	DOID:8869	neuromyelitis optica	NA	NA	NA	NA	Central nervous system disease	NA	Research Support, Non-U.S. Gov't	T	TNFRSF11A

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:0003396	Syringomyelia	MP:0003651	abnormal axon extension;HP:0100653	Optic neuritis

Chemical(Total Drugs:1)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0027873	bupivacaine	D002045	2180-92-9	neuromyelitis optica	MESH:D009471	marker/mechanism	14582781

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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