warsaw breakage syndrome |
Disease ID | 1389 |
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Disease | warsaw breakage syndrome |
Definition | A condition with multiple abnormalities including mild to severe intellectual disability, impaired growth from birth leading to short stature, and microcephaly. Affected individuals may also have distinctive facial features (including a small forehead, a short nose, a small lower jaw, a flat area between the nose and mouth (philtrum), and prominent cheeks), sensorineural hearing loss, and heart malformations |
Synonym | warsaw breakage syndrome (disorder) |
Orphanet | |
OMIM | |
DOID | |
UMLS | C3150658 |
SNOMED-CT | |
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) DDX11 | 12p11.21 |
Disease ID | 1389 |
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Disease | warsaw breakage syndrome |
Integrated Phenotype | (Waiting for update.) |
Text Mined Phenotype | (Waiting for update.) |
Disease ID | 1389 |
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Disease | warsaw breakage syndrome |
Manually Symptom | (Waiting for update.) |
Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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(Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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(Waiting for update.) |
All Snps(Total Genotypes:3) | |||||||||||||
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snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
rs201968272 | NA | 1663 | DDX11 | umls:C3150658 | CLINVAR | NA | 0.481357209 | NA | DDX11 | 12 | 31089147 | G | A |
rs730880279 | NA | 1663 | DDX11 | umls:C3150658 | CLINVAR | NA | 0.481357209 | NA | DDX11 | 12 | 31102313 | T | C |
rs730880280 | NA | 1663 | DDX11 | umls:C3150658 | CLINVAR | NA | 0.481357209 | NA | DDX11 | 12 | 31103729 | AAG | - |
GWASdb Annotation(Total Genotypes:0) | |
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(Waiting for update.) |
GWASdb Snp Trait(Total Genotypes:0) | |
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(Waiting for update.) |
Mapped by lexical matching(Total Items:0) |
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(Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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(Waiting for update.) |
Disease ID | 1389 |
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Disease | warsaw breakage syndrome |
Case | (Waiting for update.) |