eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| ichthyosis prematurity syndrome | ||||
| Disease ID | 1797 |
|---|---|
| Disease | ichthyosis prematurity syndrome |
| Synonym | ichthyosis congenita iv |
| Orphanet | |
| OMIM | |
| UMLS | C1837610 |
| 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) SLC27A4 | 9q34.11 |
| Disease ID | 1797 |
|---|---|
| Disease | ichthyosis prematurity syndrome |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1797 |
|---|---|
| Disease | ichthyosis prematurity syndrome |
| 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 |
| rs137853131 | NA | 10999 | SLC27A4 | umls:C1837610 | CLINVAR | NA | 0.561357209 | NA | SLC27A4 | 9 | 128345497 | C | A |
| rs137853132 | NA | 10999 | SLC27A4 | umls:C1837610 | CLINVAR | NA | 0.561357209 | NA | SLC27A4 | 9 | 128345267 | G | A |
| rs137853133 | NA | 10999 | SLC27A4 | umls:C1837610 | CLINVAR | NA | 0.561357209 | NA | SLC27A4 | 9 | 128350335 | T | C |
| rs137853134 | NA | 10999 | SLC27A4 | umls:C1837610 | CLINVAR | NA | 0.561357209 | NA | SLC27A4 | 9 | 128352659 | A | G |
| rs137853135 | NA | 10999 | SLC27A4 | umls:C1837610 | CLINVAR | NA | 0.561357209 | NA | SLC27A4 | 9 | 128355770 | G | 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 | 1797 |
|---|---|
| Disease | ichthyosis prematurity syndrome |
| Case | (Waiting for update.) |