eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| microcephaly | ||||
| Disease ID | 478 |
|---|---|
| Disease | microcephaly |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:10) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:4) C1839611 | n syndrome | 5 C0014544 | epilepsy | 4 C0021051 | immunodeficiency | 3 C0040188 | tic disorder | 1 |
Manually Genotype(Total Manually Genotypes:1) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| VRK1 | NM_003384.2:c.236C>T:p.(Pro79Leu) | doi:10.1038/gim.2016.37 | Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
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 | 478 |
|---|---|
| Disease | microcephaly |
| Case | (Waiting for update.) |