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encyclopedia of Rare Disease Annotation for Precision Medicine

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	hyperekplexia

Disease ID	1583
Disease	hyperekplexia
Definition	A neurological disorder characterized by an excessive startle reaction with ABNORMAL REFLEX; MYOCLONIC JERKS; and MUSCLE HYPERTONIA.
Synonym	hyperekplexia [disease/finding] hyperekplexias hyperexplexia hyperexplexia (finding) startle disease
Orphanet	ORPHANET:306773
UMLS	C0234166
MeSH	D000071017
SNOMED-CT	SNOMEDCT_US_2016_09_01:19557000
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C0025958 \| microcephaly \| 1 C0025362 \| mental retardation \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:27) 146 \| ADRA1D \| 3.144 \| DISEASES 309 \| ANXA6 \| 2.029 \| DISEASES 7439 \| BEST1 \| 1.273 \| DISEASES 1268 \| CNR1 \| 1.362 \| DISEASES 1269 \| CNR2 \| 1.743 \| DISEASES 1798 \| DPAGT1 \| 1.537 \| DISEASES 1804 \| DPP6 \| 3.663 \| DISEASES 10211 \| FLOT1 \| 2.039 \| DISEASES 2303 \| FOXC2 \| 1.535 \| DISEASES 2566 \| GABRG2 \| 1.833 \| DISEASES 2617 \| GARS \| 6.818 \| DISEASES 2643 \| GCH1 \| 1.271 \| DISEASES 2741 \| GLRA1 \| 8.425 \| DISEASES 10243 \| GPHN \| 6.025 \| DISEASES 102723508 \| KANTR \| 2.285 \| DISEASES 3751 \| KCND2 \| 2.754 \| DISEASES 3785 \| KCNQ2 \| 1.178 \| DISEASES 3786 \| KCNQ3 \| 1.691 \| DISEASES 4337 \| MOCS1 \| 2.98 \| DISEASES 6197 \| RPS6KA3 \| 2.357 \| DISEASES 6324 \| SCN1B \| 1.87 \| DISEASES 6335 \| SCN9A \| 3.799 \| DISEASES 9152 \| SLC6A5 \| 7.428 \| DISEASES 6536 \| SLC6A9 \| 3.314 \| DISEASES 6546 \| SLC8A1 \| 1.905 \| DISEASES 283989 \| TSEN54 \| 2.702 \| DISEASES 8936 \| WASF1 \| 1.243 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1583
Disease	hyperekplexia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:8) HP:0001263 \| Developmental retardation \| 2 HP:0002791 \| Under breathing \| 1 HP:0000252 \| Small head circumference \| 1 HP:0002066 \| Gait ataxia \| 1 HP:0002063 \| Muscle rigidity \| 1 HP:0003643 \| Sulfite oxidase deficiency \| 1 HP:0001249 \| Mental retardation \| 1 HP:0001256 \| Mild mental retardation \| 1

Disease ID	1583
Disease	hyperekplexia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:1) C0234166 \| startle syndrome
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
rs143918578	22753417	9152	SLC6A5	umls:C0234166	BeFree	A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2.	0.002171535	2012	SLC6A5	11	20652332	A	G
rs281864914	16078201	2741	GLRA1	umls:C0234166	BeFree	Recessive hyperekplexia due to a new mutation (R100H) in the GLRA1 gene.	0.010586233	2005	GLRA1	5	151859962	C	T

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	1583
Disease	hyperekplexia
Case	(Waiting for update.)

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