eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| coloboma of optic nerve | ||||
| Disease ID | 1622 |
|---|---|
| Disease | coloboma of optic nerve |
| Definition | A cleft of the optic nerve that extends inferiorly. [HPO:probinson, pmid:16219745] |
| Synonym | coloboma of optic disc coloboma of optic disc (disorder) congenital coloboma of optic disc congenital coloboma of optic disc (disorder) congenital coloboma of the optic nerve congenital optic disc coloboma congenital optic disc coloboma (disorder) congenital optic disc coloboma [ambiguous] optic disc coloboma optic disk coloboma optic nerve coloboma optic nerve head pits, bilateral congenital |
| OMIM | |
| DOID | |
| UMLS | C0155299 |
| 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:1) |
| Locus | (Waiting for update.) |
| Disease ID | 1622 |
|---|---|
| Disease | coloboma of optic nerve |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) HP:0000541 | Detached retina | 3 HP:0000110 | Renal dysplasia | 1 HP:0011510 | Drusen | 1 HP:0030502 | Retinoschisis | 1 |
| Disease ID | 1622 |
|---|---|
| Disease | coloboma of optic nerve |
| 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:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121907923 | NA | 5080 | PAX6 | umls:C0155299 | CLINVAR | NA | 0.36 | NA | PAX6 | 11 | 31801716 | G | A |
| rs121907925 | NA | 5080 | PAX6 | umls:C0155299 | CLINVAR | NA | 0.36 | NA | PAX6 | 11 | 31793795 | 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 | 1622 |
|---|---|
| Disease | coloboma of optic nerve |
| Case | (Waiting for update.) |