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encyclopedia of Rare Disease Annotation for Precision Medicine

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	episodic ataxia

Disease ID	1537
Disease	episodic ataxia
Definition	Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days.n [HPO:probinson]
Synonym	ataxia, episodic episodic ataxia (disorder) intermittent cerebellar ataxia paroxysmal ataxia
DOID	DOID:963
UMLS	C1720189
SNOMED-CT	SNOMEDCT_US_2016_09_01:421455009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:6) C0149931 \| migraine \| 1 C0028738 \| nystagmus \| 1 C0027765 \| neurologic disorder \| 1 C0014544 \| epilepsy \| 1 C0027765 \| neurologic disorders \| 1 C0007760 \| cerebellar dysfunction \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) 773 \| CACNA1A \| GHR 3736 \| KCNA1 \| GHR 6507 \| SLC1A3 \| GHR 785 \| CACNB4 \| GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:58) 111 \| ADCY5 \| 2.587 \| DISEASES 270 \| AMPD1 \| 1.735 \| DISEASES 477 \| ATP1A2 \| 3.627 \| DISEASES 4287 \| ATXN3 \| 2.563 \| DISEASES 6314 \| ATXN7 \| 1.073 \| DISEASES 773 \| CACNA1A \| 7.81 \| DISEASES 774 \| CACNA1B \| 1.938 \| DISEASES 778 \| CACNA1F \| 2.398 \| DISEASES 8913 \| CACNA1G \| 1.574 \| DISEASES 779 \| CACNA1S \| 2.52 \| DISEASES 785 \| CACNB4 \| 4.981 \| DISEASES 820 \| CAMP \| 2.336 \| DISEASES 57126 \| CD177 \| 1.161 \| DISEASES 1038 \| CDR1 \| 1.389 \| DISEASES 1141 \| CHRNB2 \| 2.018 \| DISEASES 1180 \| CLCN1 \| 1.693 \| DISEASES 26047 \| CNTNAP2 \| 2.123 \| DISEASES 55157 \| DARS2 \| 2.607 \| DISEASES 1798 \| DPAGT1 \| 1.3 \| DISEASES 1995 \| ELAVL3 \| 1.249 \| DISEASES 1996 \| ELAVL4 \| 1.459 \| DISEASES 2259 \| FGF14 \| 2.439 \| DISEASES 2566 \| GABRG2 \| 1.686 \| DISEASES 57704 \| GBA2 \| 2.103 \| DISEASES 2643 \| GCH1 \| 1.034 \| DISEASES 3736 \| KCNA1 \| 7.577 \| DISEASES 3744 \| KCNA10 \| 4.126 \| DISEASES 3739 \| KCNA4 \| 3.628 \| DISEASES 7881 \| KCNAB1 \| 4.859 \| DISEASES 8514 \| KCNAB2 \| 4.083 \| DISEASES 3745 \| KCNB1 \| 1.624 \| DISEASES 3748 \| KCNC3 \| 3.115 \| DISEASES 3758 \| KCNJ1 \| 1.273 \| DISEASES 3766 \| KCNJ10 \| 1.289 \| DISEASES 3785 \| KCNQ2 \| 2.63 \| DISEASES 3786 \| KCNQ3 \| 3.002 \| DISEASES 11127 \| KIF3A \| 1.958 \| DISEASES 4508 \| MT-ATP6 \| 1.21 \| DISEASES 4647 \| MYO7A \| 1.263 \| DISEASES 4784 \| NFIX \| 3.361 \| DISEASES 64324 \| NSD1 \| 1.341 \| DISEASES 5160 \| PDHA1 \| 1.718 \| DISEASES 5521 \| PPP2R2B \| 1.836 \| DISEASES 5587 \| PRKD1 \| 1.715 \| DISEASES 112476 \| PRRT2 \| 4.982 \| DISEASES 6261 \| RYR1 \| 1.984 \| DISEASES 286205 \| SCAI \| 1.786 \| DISEASES 6324 \| SCN1B \| 1.723 \| DISEASES 6329 \| SCN4A \| 1.537 \| DISEASES 6334 \| SCN8A \| 1.44 \| DISEASES 117157 \| SH2D1B \| 3.886 \| DISEASES 6513 \| SLC2A1 \| 2.222 \| DISEASES 6812 \| STXBP1 \| 1.591 \| DISEASES 255928 \| SYT14 \| 3.447 \| DISEASES 127833 \| SYT2 \| 2.54 \| DISEASES 60684 \| TRAPPC11 \| 2.857 \| DISEASES 7222 \| TRPC3 \| 1.668 \| DISEASES 23352 \| UBR4 \| 2.894 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1537
Disease	episodic ataxia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:4) HP:0002076 \| Migraine headaches \| 1 HP:0000639 \| Nystagmus \| 1 HP:0002411 \| Myokymia \| 1 HP:0002321 \| Vertigo \| 1

Disease ID	1537
Disease	episodic ataxia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:1) C0013604 \| oedema
Text Mined Symptom	(Waiting for update.)

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

Text Mining Genotype(Total 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
rs104894357	26338330	3736	KCNA1	umls:C1720189	BeFree	The mutation F184C in Kv1.1 leads to development of episodic ataxia type I (EA1).	0.003800186	2015	KCNA1	12	4911929	T	G
rs137852620	19139306	6507	SLC1A3	umls:C1720189	BeFree	Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake.	0.000542884	2009	SLC1A3	5	36674080	T	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.)

Disease ID	1537
Disease	episodic ataxia
Case	(Waiting for update.)

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