eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| kufor-rakeb syndrome | ||||
| Disease ID | 1535 |
|---|---|
| Disease | kufor-rakeb syndrome |
| Synonym | krppd pallidopyramidal degeneration with supranuclear upgaze paresis and dementia park9 parkinson disease 9 parkinson disease 9, autosomal recessive, juvenile-onset |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C1847640 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences: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:20) 57130 | ATP13A1 | 4.403 | DISEASES 23400 | ATP13A2 | 7.799 | DISEASES 344905 | ATP13A5 | 4.524 | DISEASES 477 | ATP1A2 | 2.147 | DISEASES 538 | ATP7A | 1.306 | DISEASES 4287 | ATXN3 | 1.489 | DISEASES 80347 | COASY | 2.909 | DISEASES 80067 | DCAF17 | 3.061 | DISEASES 54583 | EGLN1 | 2.115 | DISEASES 2643 | GCH1 | 1.83 | DISEASES 3735 | KARS | 2.697 | DISEASES 3920 | LAMP2 | 1.777 | DISEASES 1130 | LYST | 2.666 | DISEASES 5071 | PARK2 | 2.737 | DISEASES 11315 | PARK7 | 3.269 | DISEASES 65018 | PINK1 | 2.923 | DISEASES 8398 | PLA2G6 | 3.95 | DISEASES 6622 | SNCA | 2.047 | DISEASES 6949 | TCOF1 | 1.347 | DISEASES 7415 | VCP | 1.488 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) ATP13A2 | 1p36.13 |
| Disease ID | 1535 |
|---|---|
| Disease | kufor-rakeb syndrome |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1535 |
|---|---|
| Disease | kufor-rakeb syndrome |
| 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:11) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121918227 | NA | 23400 | ATP13A2 | umls:C1847640 | CLINVAR | NA | 0.566786047 | NA | ATP13A2 | 1 | 16996008 | C | G |
| rs121918227 | 17485642 | 23400 | ATP13A2 | umls:C1847640 | UNIPROT | We confirm that ATP13A2 homozygous mutations are associated with human parkinsonism, and expand the associated genotypic and clinical spectrum, by describing a homozygous missense mutation in this gene in a patient with a phenotype milder than that initially associated with ATP13A2 mutations (Kufor-Rakeb syndrome). | 0.566786047 | 2007 | ATP13A2 | 1 | 16996008 | C | G |
| rs144701072 | NA | 23400 | ATP13A2 | umls:C1847640 | CLINVAR | NA | 0.566786047 | NA | ATP13A2 | 1 | 16988455 | C | T |
| rs147277743 | 23522931 | 23400 | ATP13A2 | umls:C1847640 | BeFree | The association between idiopathic Parkinson's disease (PD) and the ATP13A2 (PARK9) Ala746Thr variant, associated with Kufor-Rakeb syndrome, is controversial. | 0.566786047 | 2012 | ATP13A2 | 1 | 16991749 | C | T |
| rs150519745 | NA | 23400 | ATP13A2 | umls:C1847640 | CLINVAR | NA | 0.566786047 | NA | ATP13A2 | 1 | 17000107 | C | T |
| rs199624796 | NA | 23400 | ATP13A2 | umls:C1847640 | CLINVAR | NA | 0.566786047 | NA | ATP13A2 | 1 | 17004399 | G | A |
| rs587776890 | NA | 23400 | ATP13A2 | umls:C1847640 | CLINVAR | NA | 0.566786047 | NA | ATP13A2 | 1 | 16989747 | AA | - |
| rs587777053 | NA | 23400 | ATP13A2 | umls:C1847640 | CLINVAR | NA | 0.566786047 | NA | ATP13A2 | 1 | 16989739 | A | C |
| rs749798211 | NA | 23400 | ATP13A2 | umls:C1847640 | CLINVAR | NA | 0.566786047 | NA | ATP13A2 | 1 | 17004818 | CAGGCTGGGGAAG | - |
| rs762033589 | NA | 23400 | ATP13A2 | umls:C1847640 | CLINVAR | NA | 0.566786047 | NA | ATP13A2 | 1 | 16997112 | - | TC |
| rs786205056 | NA | 23400 | ATP13A2 | umls:C1847640 | CLINVAR | NA | 0.566786047 | NA | ATP13A2 | 1 | 16996381 | 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 | 1535 |
|---|---|
| Disease | kufor-rakeb syndrome |
| Case | (Waiting for update.) |