PedAM

Pediatric Disease Annotations & Medicines


	pathologic nystagmus

Disease ID	1349
Disease	pathologic nystagmus
Definition	involuntary, rapid, rhythmic movement of the eyeball.
Synonym	nystagmus nystagmus (disorder) nystagmus nos nystagmus, nos nystagmus, pathologic nystagmus, pathologic [disease/finding] nystagmus, unspecified unspecified nystagmus unspecified nystagmus (disorder)
DOID	DOID:9650
ICD10	ICD10CM:H55.00
UMLS	C0028738
MeSH	D009759
SNOMED-CT	SNOMEDCT_US_2016_09_01:563001
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) RPGRIP1 \| 57096 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:82) 64132 \| XYLT2 \| DISEASES 9016 \| SLC25A14 \| DISEASES 1406 \| CRX \| DISEASES 1311 \| COMP \| DISEASES 2218 \| FKTN \| DISEASES 6908 \| TBP \| DISEASES 79809 \| TTC21B \| DISEASES 2780 \| GNAT2 \| DISEASES 3000 \| GUCY2D \| DISEASES 6121 \| RPE65 \| DISEASES 27130 \| INVS \| DISEASES 10133 \| OPTN \| DISEASES 7299 \| TYR \| DISEASES 10000 \| AKT3 \| DISEASES 7840 \| ALMS1 \| DISEASES 2651 \| GCNT2 \| DISEASES 793 \| CALB1 \| DISEASES 54806 \| AHI1 \| DISEASES 11234 \| HPS5 \| DISEASES 7078 \| TIMP3 \| DISEASES 396 \| ARHGDIA \| DISEASES 2052 \| EPHX1 \| DISEASES 51057 \| WDPCP \| DISEASES 1261 \| CNGA3 \| DISEASES 291 \| SLC25A4 \| DISEASES 84343 \| HPS3 \| DISEASES 51151 \| SLC45A2 \| DISEASES 90167 \| FRMD7 \| DISEASES 79803 \| HPS6 \| DISEASES 146167 \| SLC38A8 \| DISEASES 4744 \| NEFH \| DISEASES 5062 \| PAK2 \| DISEASES 8560 \| DEGS1 \| DISEASES 54714 \| CNGB3 \| DISEASES 582 \| BBS1 \| DISEASES 80207 \| OPA3 \| DISEASES 57010 \| CABP4 \| DISEASES 23545 \| ATP6V0A2 \| DISEASES 1103 \| CHAT \| DISEASES 7430 \| EZR \| DISEASES 60506 \| NYX \| DISEASES 4137 \| MAPT \| DISEASES 5962 \| RDX \| DISEASES 4948 \| OCA2 \| DISEASES 1785 \| DNM2 \| DISEASES 1121 \| CHM \| DISEASES 93034 \| NT5C1B \| DISEASES 773 \| CACNA1A \| DISEASES 4478 \| MSN \| DISEASES 4133 \| MAP2 \| DISEASES 10806 \| SDCCAG8 \| DISEASES 57165 \| GJC2 \| DISEASES 2987 \| GUK1 \| DISEASES 27101 \| CACYBP \| DISEASES 3547 \| IGSF1 \| DISEASES 5146 \| PDE6C \| DISEASES 6812 \| STXBP1 \| DISEASES 79140 \| CCDC28B \| DISEASES 9968 \| MED12 \| DISEASES 778 \| CACNA1F \| DISEASES 8573 \| CASK \| DISEASES 650 \| BMP2 \| DISEASES 5080 \| PAX6 \| DISEASES 9946 \| CRYZL1 \| DISEASES 169522 \| KCNV2 \| DISEASES 10675 \| CSPG5 \| DISEASES 7306 \| TYRP1 \| DISEASES 2524 \| FUT2 \| DISEASES 54903 \| MKS1 \| DISEASES 2596 \| GAP43 \| DISEASES 64221 \| ROBO3 \| DISEASES 60489 \| APOBEC3G \| DISEASES 1123 \| CHN1 \| DISEASES 91147 \| TMEM67 \| DISEASES 7439 \| BEST1 \| DISEASES 89782 \| LMLN \| DISEASES 4935 \| GPR143 \| DISEASES 5333 \| PLCD1 \| DISEASES 246744 \| STH \| DISEASES 10381 \| TUBB3 \| DISEASES 4157 \| MC1R \| DISEASES 102723508 \| KANTR \| DISEASES
Locus	(Waiting for update.)

Disease ID	1349
Disease	pathologic nystagmus
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	(Waiting for update.)

Disease ID	1349
Disease	pathologic nystagmus
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:2)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121908212	18670797	773	CACNA1A	umls:C0028738	BeFree	Although clinical features associated with the T666M CACNA1A mutation are highly variable, downbeat positioning nystagmus may be an important clinical feature of this disease.	0.002171535	2008	CACNA1A	19	13303877	G	A
rs137852212	17962394	90167	FRMD7	umls:C0028738	BeFree	A novel p.R229G mutation in the FRMD7 gene causes the NYS phenotype, and skewed X inactivation influences the manifestation of the disease in X linked NYS females.	0.005624334	2008	FRMD7	X	132084546	G	C

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:17)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0028738	baclofen	D001418	1134-47-0	nystagmus, pathologic	MESH:D009759	therapeutic	11096749
C0028738	carbamazepine	D002220	298-46-4	nystagmus, pathologic	MESH:D009759	marker/mechanism	4049464
C0028738	celecoxib	D000068579	-	nystagmus, pathologic	MESH:D009759	marker/mechanism	12380707
C0028738	digoxin	D004077	20830-75-5	nystagmus, pathologic	MESH:D009759	marker/mechanism	5440585
C0028738	ethchlorvynol	D004984	113-18-8	nystagmus, pathologic	MESH:D009759	marker/mechanism	1173627
C0028738	fluoxetine	D005473	54910-89-3	nystagmus, pathologic	MESH:D009759	marker/mechanism	7806697
C0028738	gabapentin	C040029	60142-96-3	nystagmus, pathologic	MESH:D009759	therapeutic	11096749
C0028738	lidocaine	D008012	137-58-6	nystagmus, pathologic	MESH:D009759	marker/mechanism	4713141
C0028738	mefloquine	D015767	53230-10-7	nystagmus, pathologic	MESH:D009759	marker/mechanism	12879977
C0028738	metformin	D008687	657-24-9	nystagmus, pathologic	MESH:D009759	marker/mechanism	14984458
C0028738	methotrexate	D008727	1959/5/2	nystagmus, pathologic	MESH:D009759	marker/mechanism	8638223
C0028738	morphine	D009020	57-27-2	nystagmus, pathologic	MESH:D009759	marker/mechanism	10960401
C0028738	nicotine	D009538	-	nystagmus, pathologic	MESH:D009759	marker/mechanism	11094116
C0028738	pentobarbital	D010424	76-74-4	nystagmus, pathologic	MESH:D009759	marker/mechanism	1155542
C0028738	phenytoin	D010672	57-41-0	nystagmus, pathologic	MESH:D009759	marker/mechanism	109744
C0028738	tacrolimus	D016559	109581-93-3	nystagmus, pathologic	MESH:D009759	marker/mechanism	10954277
C0028738	valproic acid	D014635	99-66-1	nystagmus, pathologic	MESH:D009759	therapeutic	3137915

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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