eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| episodic ataxia type 1 | ||||
| Disease ID | 1294 |
|---|---|
| Disease | episodic ataxia type 1 |
| Synonym | aemk ataxia, episodic, with myokymia ea1 eam episodic ataxia type 1 (disorder) episodic ataxia type 1 (ea1) episodic ataxia with myokymia episodic ataxia, type 1 myokymia 1 with or without hypomagnesemia myokymia with periodic ataxia paroxysmal ataxia with neuromyotonia, hereditary |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C1719788 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:28) 111 | ADCY5 | 2.343 | DISEASES 773 | CACNA1A | 4.87 | DISEASES 779 | CACNA1S | 3.232 | DISEASES 785 | CACNB4 | 4.498 | DISEASES 1137 | CHRNA4 | 1.129 | DISEASES 1141 | CHRNB2 | 2.73 | DISEASES 1798 | DPAGT1 | 2.013 | DISEASES 2566 | GABRG2 | 2.398 | DISEASES 57704 | GBA2 | 2.816 | DISEASES 3736 | KCNA1 | 7.779 | DISEASES 3744 | KCNA10 | 3.882 | DISEASES 3739 | KCNA4 | 4.341 | DISEASES 7881 | KCNAB1 | 5.272 | DISEASES 8514 | KCNAB2 | 4.236 | DISEASES 3748 | KCNC3 | 2.825 | DISEASES 3766 | KCNJ10 | 2.002 | DISEASES 3785 | KCNQ2 | 1.742 | DISEASES 3786 | KCNQ3 | 2.256 | DISEASES 11127 | KIF3A | 2.671 | DISEASES 9211 | LGI1 | 1.63 | DISEASES 4647 | MYO7A | 1.976 | DISEASES 5587 | PRKD1 | 1.471 | DISEASES 112476 | PRRT2 | 4.142 | DISEASES 6261 | RYR1 | 1.695 | DISEASES 6324 | SCN1B | 2.435 | DISEASES 6334 | SCN8A | 2.153 | DISEASES 255928 | SYT14 | 4.16 | DISEASES 60684 | TRAPPC11 | 3.57 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) KCNA1 | 12p13.32 |
| Disease ID | 1294 |
|---|---|
| Disease | episodic ataxia type 1 |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1294 |
|---|---|
| Disease | episodic ataxia type 1 |
| 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:18) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894348 | NA | 3736 | KCNA1 | umls:C1719788 | CLINVAR | NA | 0.564614512 | NA | KCNA1 | 12 | 4912093 | C | A |
| rs104894349 | NA | 3736 | KCNA1 | umls:C1719788 | CLINVAR | NA | 0.564614512 | NA | KCNA1 | 12 | 4911898 | G | T |
| rs104894352 | NA | 3736 | KCNA1 | umls:C1719788 | CLINVAR | NA | 0.564614512 | NA | KCNA1 | 12 | 4912601 | T | C |
| rs104894353 | NA | 3736 | KCNA1 | umls:C1719788 | CLINVAR | NA | 0.564614512 | NA | KCNA1 | 12 | 4912353 | G | C |
| rs104894354 | NA | 3736 | KCNA1 | umls:C1719788 | CLINVAR | NA | 0.564614512 | NA | KCNA1 | 12 | 4912054 | A | G |
| rs104894355 | NA | 3736 | KCNA1 | umls:C1719788 | CLINVAR | NA | 0.564614512 | NA | KCNA1 | 12 | 4912588 | G | A |
| rs104894356 | NA | 3736 | KCNA1 | umls:C1719788 | CLINVAR | NA | 0.564614512 | NA | KCNA1 | 12 | 4912123 | T | A |
| rs104894357 | NA | 3736 | KCNA1 | umls:C1719788 | CLINVAR | NA | 0.564614512 | NA | KCNA1 | 12 | 4911929 | T | G |
| rs104894358 | NA | 3736 | KCNA1 | umls:C1719788 | CLINVAR | NA | 0.564614512 | NA | KCNA1 | 12 | 4912627 | C | T |
| rs113994117 | NA | 3736 | KCNA1 | umls:C1719788 | CLINVAR | NA | 0.564614512 | NA | KCNA1 | 12 | 4912600 | G | T |
| rs113994118 | NA | 3736 | KCNA1 | umls:C1719788 | CLINVAR | NA | 0.564614512 | NA | KCNA1 | 12 | 4912619 | T | G |
| rs113994120 | NA | 3736 | KCNA1 | umls:C1719788 | CLINVAR | NA | 0.564614512 | NA | KCNA1 | 12 | 4912126 | TTC | - |
| rs267607195 | NA | 3736 | KCNA1 | umls:C1719788 | CLINVAR | NA | 0.564614512 | NA | KCNA1 | 12 | 4911908 | T | A |
| rs28933381 | 11026449 | 3736 | KCNA1 | umls:C1719788 | UNIPROT | Affected members in Family D (KCNA1 G1210A) exhibit attacks typical of EA1. | 0.564614512 | 2000 | KCNA1 | 12 | 4912102 | G | C |
| rs28933382 | 11026449 | 3736 | KCNA1 | umls:C1719788 | UNIPROT | Affected members in Family D (KCNA1 G1210A) exhibit attacks typical of EA1. | 0.564614512 | 2000 | KCNA1 | 12 | 4912109 | C | A |
| rs28933383 | 17136396 | 3736 | KCNA1 | umls:C1719788 | UNIPROT | Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia. | 0.564614512 | 2007 | KCNA1 | 12 | 4912055 | C | A,G,T |
| rs28933383 | 10355668 | 3736 | KCNA1 | umls:C1719788 | UNIPROT | A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy. | 0.564614512 | 1999 | KCNA1 | 12 | 4912055 | C | A,G,T |
| rs28933383 | NA | 3736 | KCNA1 | umls:C1719788 | CLINVAR | NA | 0.564614512 | NA | KCNA1 | 12 | 4912055 | 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) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1294 |
|---|---|
| Disease | episodic ataxia type 1 |
| Case | (Waiting for update.) |