eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| anauxetic dysplasia | ||||
| Disease ID | 1855 |
|---|---|
| Disease | anauxetic dysplasia |
| Synonym | spondylometaepiphyseal dysplasia, anauxetic type spondylometaepiphyseal dysplasia, menger type |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C1846796 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:1) |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 1855 |
|---|---|
| Disease | anauxetic dysplasia |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1855 |
|---|---|
| Disease | anauxetic dysplasia |
| 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:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs387906533 | NA | 6023 | RMRP | umls:C1846796 | CLINVAR | NA | 0.360814326 | NA | NA | NA | NA | NA | NA |
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 | 1855 |
|---|---|
| Disease | anauxetic dysplasia |
| Case | (Waiting for update.) |