eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| hemoglobin e disease | ||||
| Disease ID | 1684 |
|---|---|
| Disease | hemoglobin e disease |
| Definition | A condition characterized by the presence of a variant of normal hemoglobin (hemoglobin E), which is caused by mutation(s) in the gene encoding the beta subunit of the hemoglobin molecule. |
| Synonym | diseases e haemoglobin haemoglobin e disease haemoglobin e-e disease hb e-disease hb-e disease hemoglobin e disease (disorder) hemoglobin e-e disease homozygous for hb e |
| Orphanet | |
| DOID | |
| UMLS | C0238159 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:13) 53335 | BCL11A | 3.474 | DISEASES 617 | BCS1L | 3.561 | DISEASES 831 | CAST | 2.88 | DISEASES 2159 | F10 | 1.362 | DISEASES 2623 | GATA1 | 1.239 | DISEASES 3043 | HBB | 4.798 | DISEASES 3045 | HBD | 3.784 | DISEASES 3047 | HBG1 | 3.045 | DISEASES 10767 | HBS1L | 3.937 | DISEASES 23499 | MACF1 | 2.953 | DISEASES 56980 | PRDM10 | 1.393 | DISEASES 55147 | RBM23 | 2.308 | DISEASES 7018 | TF | 2.503 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) HBB | 11p15.4 |
| Disease ID | 1684 |
|---|---|
| Disease | hemoglobin e disease |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1684 |
|---|---|
| Disease | hemoglobin e disease |
| 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: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 | 1684 |
|---|---|
| Disease | hemoglobin e disease |
| Case | (Waiting for update.) |