eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| occult macular dystrophy | ||||
| Disease ID | 1868 |
|---|---|
| Disease | occult macular dystrophy |
| Synonym | ocmd |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C3150833 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:8) |
| Locus | Symbol | Locus(Total Locus:1) RP1L1 | 8p23.1 |
| Disease ID | 1868 |
|---|---|
| Disease | occult macular dystrophy |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1868 |
|---|---|
| Disease | occult macular dystrophy |
| 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:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs267607017 | NA | 94137 | RP1L1 | umls:C3150833 | CLINVAR | NA | 0.482442977 | NA | RP1L1 | 8 | 10623069 | G | A |
| rs267607017 | 23619761 | 94137 | RP1L1 | umls:C3150833 | BeFree | Elderly case of pseudo-unilateral occult macular dystrophy with Arg45Trp mutation in RP1L1 gene. | 0.482442977 | 2013 | RP1L1 | 8 | 10623069 | G | A |
| rs267607017 | 22504327 | 94137 | RP1L1 | umls:C3150833 | BeFree | Autosomal dominant occult macular dystrophy with an RP1L1 mutation (R45W). | 0.482442977 | 2012 | RP1L1 | 8 | 10623069 | G | A |
| rs267607018 | NA | 94137 | RP1L1 | umls:C3150833 | CLINVAR | NA | 0.482442977 | NA | RP1L1 | 8 | 10611220 | A | G |
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 | 1868 |
|---|---|
| Disease | occult macular dystrophy |
| Case | (Waiting for update.) |