eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| hyperalphalipoproteinemia | ||||
| Disease ID | 1435 |
|---|---|
| Disease | hyperalphalipoproteinemia |
| Definition | An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood. [HPO:probinson] |
| Synonym | cetp deficiency cholesteryl ester transfer protein deficiency halp1 high blood hdl level hyperalphalipoproteinaemia hyperalphalipoproteinemia (disorder) |
| Orphanet | |
| OMIM | |
| UMLS | C0342883 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1435 |
|---|---|
| Disease | hyperalphalipoproteinemia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:1) HP:0012184 | Hyperalphalipoproteinemia |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1435 |
|---|---|
| Disease | hyperalphalipoproteinemia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0033626 | protein deficiency |
| 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:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs2303790 | NA | 1071 | CETP | umls:C0342883 | CLINVAR | NA | 0.129500466 | NA | CETP | 16 | 56983380 | A | 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 | 1435 |
|---|---|
| Disease | hyperalphalipoproteinemia |
| Case | (Waiting for update.) |