eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| gray platelet syndrome | ||||
| Disease ID | 466 |
|---|---|
| Disease | gray platelet syndrome |
| Definition | A rare, inherited platelet disorder characterized by a selective deficiency in the number and contents of platelet alpha-granules. It is associated with THROMBOCYTOPENIA, enlarged platelets, and prolonged bleeding time. |
| Synonym | bdplt4 bleeding disorder, platelet-type, 4 deficient alpha granule syndrome gps gray platelet syndrome (disorder) gray platelet syndrome [disease/finding] gray platelet syndromes grey platelet syndrome grey platelet syndromes platelet alpha granule deficiency platelet alpha-granule deficiency platelet granule defect platelet syndromes, grey syndrome, gray platelet syndrome, grey platelet syndromes, gray platelet |
| Orphanet | |
| OMIM | |
| UMLS | C0272302 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 466 |
|---|---|
| Disease | gray platelet syndrome |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 466 |
|---|---|
| Disease | gray platelet syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| 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:7) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs372277612 | NA | 23218 | NBEAL2 | umls:C0272302 | CLINVAR | NA | 0.561357209 | NA | NBEAL2 | 3 | 46991644 | C | G |
| rs387907112 | NA | 23218 | NBEAL2 | umls:C0272302 | CLINVAR | NA | 0.561357209 | NA | NBEAL2 | 3 | 46997310 | C | T |
| rs387907113 | NA | 23218 | NBEAL2 | umls:C0272302 | CLINVAR | NA | 0.561357209 | NA | NBEAL2 | 3 | 46993986 | T | C |
| rs387907114 | NA | 23218 | NBEAL2 | umls:C0272302 | CLINVAR | NA | 0.561357209 | NA | NBEAL2 | 3 | 46995743 | A | T |
| rs387907115 | NA | 23218 | NBEAL2 | umls:C0272302 | CLINVAR | NA | 0.561357209 | NA | NBEAL2 | 3 | 47004976 | C | T |
| rs794726682 | NA | 23218 | NBEAL2 | umls:C0272302 | CLINVAR | NA | 0.561357209 | NA | NBEAL2 | 3 | 46995558 | G | A |
| rs794726683 | NA | 23218 | NBEAL2 | umls:C0272302 | CLINVAR | NA | 0.561357209 | NA | NBEAL2 | 3 | 47002756 | - | G |
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 | 466 |
|---|---|
| Disease | gray platelet syndrome |
| Case | (Waiting for update.) |