eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| familial paroxysmal kinesigenic dyskinesia | ||||
| Disease ID | 1981 |
|---|---|
| Disease | familial paroxysmal kinesigenic dyskinesia |
| Synonym | dystonia 10 dystonia, familial paroxysmal dyt10 episodic kinesigenic dyskinesia 1 familial paroxysmal dystonia paroxysmal kinesigenic choreoathetosis paroxysmal kinesigenic choreoathetosis (disorder) paroxysmal kinesigenic dyskinesia paroxysmal kinesigenic dyskinesia (disorder) |
| Orphanet | |
| OMIM | |
| UMLS | C1868682 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) C0006663 | calcinosis | 1 C0270740 | paroxysmal kinesigenic choreoathetosis | 1 C0014544 | epilepsy | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:1) |
| Locus | (Waiting for update.) |
| Disease ID | 1981 |
|---|---|
| Disease | familial paroxysmal kinesigenic dyskinesia |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 1981 |
|---|---|
| Disease | familial paroxysmal kinesigenic dyskinesia |
| Manually Symptom | (Waiting for update.) |
| 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:9) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs387907127 | NA | 112476 | PRRT2 | umls:C1868682 | CLINVAR | NA | 0.371129117 | NA | PRRT2 | 16 | 29813541 | C | T |
| rs387907128 | NA | 112476 | PRRT2 | umls:C1868682 | CLINVAR | NA | 0.371129117 | NA | PRRT2 | 16 | 29813850 | C | T |
| rs397514579 | NA | 112476 | PRRT2 | umls:C1868682 | CLINVAR | NA | 0.371129117 | NA | PRRT2 | 16 | 29813802 | C | T |
| rs397515576 | NA | 112476 | PRRT2 | umls:C1868682 | CLINVAR | NA | 0.371129117 | NA | PRRT2 | 16 | 29813564 | - | T |
| rs587778771 | NA | 112476 | PRRT2 | umls:C1868682 | CLINVAR | NA | 0.371129117 | NA | PRRT2 | 16 | 29813703 | - | C |
| rs730882065 | NA | 112476 | PRRT2 | umls:C1868682 | CLINVAR | NA | 0.371129117 | NA | PRRT2 | 16 | 29813568 | TCTG | - |
| rs730882066 | NA | 112476 | PRRT2 | umls:C1868682 | CLINVAR | NA | 0.371129117 | NA | PAGR1;PRRT2 | 16 | 29814425 | A | - |
| rs730882071 | NA | 112476 | PRRT2 | umls:C1868682 | CLINVAR | NA | 0.371129117 | NA | PRRT2 | 16 | 29813703 | C | - |
| rs76335820 | NA | 112476 | PRRT2 | umls:C1868682 | CLINVAR | NA | 0.371129117 | NA | PRRT2 | 16 | 29813701 | C | A,G,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 | 1981 |
|---|---|
| Disease | familial paroxysmal kinesigenic dyskinesia |
| Case | (Waiting for update.) |