eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| blue cone monochromacy | ||||
| Disease ID | 1761 |
|---|---|
| Disease | blue cone monochromacy |
| Definition | A form of monochromacy in which vision is derived from the remaining preserved blue (S) cones and rod photoreceptors. [HPO:probinson] |
| Synonym | blue cone monochromatism cbbm color blindness blue mono cone monochromatic type colorblindness, blue-mono-cone-monochromatic type cone monochromatism cone monochromatism (disorder) s-cone monochromacy |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0339537 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:6) |
| Locus | (Waiting for update.) |
| Disease ID | 1761 |
|---|---|
| Disease | blue cone monochromacy |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1761 |
|---|---|
| Disease | blue cone monochromacy |
| 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:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894912 | NA | 5956 | OPN1LW | umls:C0339537 | CLINVAR | NA | 0.48 | NA | OPN1LW | X | 154154734 | C | T |
| rs104894914 | NA | 2652 | OPN1MW | umls:C0339537 | CLINVAR | NA | 0.48 | NA | OPN1MW | X | 154191716 | T | C |
| rs121434621 | NA | 5956 | OPN1LW | umls:C0339537 | CLINVAR | NA | 0.48 | NA | OPN1LW | X | 154154602 | T | C |
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 | 1761 |
|---|---|
| Disease | blue cone monochromacy |
| Case | (Waiting for update.) |