eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| sarcosinemia | ||||
| Disease ID | 1940 |
|---|---|
| Disease | sarcosinemia |
| Definition | An elevated plasma concentration of sarcosine. [HPO:gcarletti] |
| Synonym | deficiency of the sarcosine dehydrogenase complex demethylation defect of n-methylglycine high plasma sarcosine levels hypersarcosinaemia hypersarcosinemia sarcos sarcosin dehydrogenase complex, deficiency of sarcosinaemia sarcosine dehydrogenase complex deficiency sarcosine dehydrogenase complex, deficiency of sarcosine dehydrogenase deficiency sarcosine dehydrogenase deficiency (disorder) sarcosinuria sard deficiency sardh deficiency sardhd |
| Orphanet | |
| OMIM | |
| UMLS | C0268563 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) SARDH | 9q34.2 |
| Disease ID | 1940 |
|---|---|
| Disease | sarcosinemia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:1) HP:0010896 | Hypersarcosinemia |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1940 |
|---|---|
| Disease | sarcosinemia |
| 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:5) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs140559739 | NA | 1757 | SARDH | umls:C0268563 | CLINVAR | NA | 0.480814326 | NA | SARDH | 9 | 133704962 | G | A |
| rs149391396 | NA | 1757 | SARDH | umls:C0268563 | CLINVAR | NA | 0.480814326 | NA | SARDH | 9 | 133671694 | G | A |
| rs149481147 | 22825317 | 1757 | SARDH | umls:C0268563 | UNIPROT | Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia. | 0.480814326 | 2012 | SARDH | 9 | 133729820 | G | A |
| rs149481147 | NA | 1757 | SARDH | umls:C0268563 | CLINVAR | NA | 0.480814326 | NA | SARDH | 9 | 133729820 | G | A |
| rs397514504 | NA | 1757 | SARDH | umls:C0268563 | CLINVAR | NA | 0.480814326 | NA | SARDH | 9 | 133733963 | C | A |
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 | 1940 |
|---|---|
| Disease | sarcosinemia |
| Case | (Waiting for update.) |