eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| kbg syndrome | ||||
| Disease ID | 909 |
|---|---|
| Disease | kbg syndrome |
| Synonym | kbgs macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome (disorder) |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0220687 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:7) |
| Locus | Symbol | Locus(Total Locus:1) ANKRD11 | 16q24.3 |
| Disease ID | 909 |
|---|---|
| Disease | kbg syndrome |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 909 |
|---|---|
| Disease | kbg syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:2) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| KBG syndrome | ANKRD11 | NM_013275, c.7825C>T (p.Q2609*) | doi:10.1038/gim.2015.186 |
| KBG syndrome | ANKRD11 | NM_013275, c.2518delC (p.R840Gfs*23) | doi:10.1038/gim.2015.186 |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs797045027 | NA | 29123 | ANKRD11 | umls:C0220687 | CLINVAR | NA | 0.242985861 | NA | ANKRD11 | 16 | 89284141 | TTTC | - |
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 | 909 |
|---|---|
| Disease | kbg syndrome |
| Case | (Waiting for update.) |