eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| macular corneal dystrophy | ||||
| Disease ID | 748 |
|---|---|
| Disease | macular corneal dystrophy |
| Definition | A stromal corneal dystrophy, with autosomal recessive inheritance, that is caused by lack of or abnormal keratan sulfate. |
| Synonym | corneal macular dystrophies corneal macular dystrophy dystrophies, corneal macular dystrophy, corneal macular macular cornea dystrophy macular corneal dystrophy (disorder) macular dystrophies, corneal macular dystrophy, corneal |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0024439 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:10) 23563 | CHST5 | 4.166 | DISEASES 4166 | CHST6 | 8.232 | DISEASES 2934 | GSN | 2.57 | DISEASES 3850 | KRT3 | 2.821 | DISEASES 8732 | RNGTT | 2.757 | DISEASES 6303 | SAT1 | 2.295 | DISEASES 8878 | SQSTM1 | 1.715 | DISEASES 4070 | TACSTD2 | 2.256 | DISEASES 7045 | TGFBI | 4.785 | DISEASES 29914 | UBIAD1 | 3.026 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) CHST6 | 16q23.1 |
| Disease ID | 748 |
|---|---|
| Disease | macular corneal dystrophy |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 748 |
|---|---|
| Disease | macular corneal dystrophy |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C1096274 | corneal thinning |
| 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 | 748 |
|---|---|
| Disease | macular corneal dystrophy |
| Case | (Waiting for update.) |