eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| schinzel syndrome | ||||
| Disease ID | 1645 |
|---|---|
| Disease | schinzel syndrome |
| Definition | An extremely rare inherited disorder characterized by malformations of the ulnar ray, hypoplasia and dysfunction of the axillary apocrine and mammary glands, endocrine dysfunction, dental anomalies, and occasional visceral malformations. |
| Synonym | pallister ulnar-mammary syndrome ulnar mammary syndrome ulnar mammary syndrome (disorder) ulnar-mammary syndrome ulnar-mammary syndrome of pallister ums |
| Orphanet | |
| OMIM | |
| UMLS | C1866994 |
| 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:20) 1029 | CDKN2A | 2.08 | DISEASES 8822 | FGF17 | 2.931 | DISEASES 2253 | FGF8 | 1.789 | DISEASES 2254 | FGF9 | 2.249 | DISEASES 2290 | FOXG1 | 1.877 | DISEASES 387755 | INSC | 2.568 | DISEASES 9355 | LHX2 | 2.933 | DISEASES 4193 | MDM2 | 1.388 | DISEASES 407975 | MIR17HG | 1.856 | DISEASES 9241 | NOG | 2.465 | DISEASES 4878 | NPPA | 1.232 | DISEASES 5080 | PAX6 | 1.109 | DISEASES 5158 | PDE6B | 1.771 | DISEASES 4920 | ROR2 | 2.774 | DISEASES 10716 | TBR1 | 2.805 | DISEASES 6899 | TBX1 | 4.049 | DISEASES 9096 | TBX18 | 4.339 | DISEASES 9095 | TBX19 | 2.867 | DISEASES 57057 | TBX20 | 2.764 | DISEASES 50945 | TBX22 | 2.595 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1645 |
|---|---|
| Disease | schinzel syndrome |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) HP:0000078 | Genital abnormalities | 1 HP:0100702 | Arachnoid cyst | 1 HP:0001762 | Talipes equinovarus | 1 HP:0001883 | Talipes | 1 |
| Disease ID | 1645 |
|---|---|
| Disease | schinzel syndrome |
| 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 |
| rs104894376 | NA | 6926 | TBX3 | umls:C1866994 | CLINVAR | NA | 0.568414698 | NA | TBX3 | 12 | 114677644 | T | A |
| rs397514484 | NA | 6926 | TBX3 | umls:C1866994 | CLINVAR | NA | 0.568414698 | NA | TBX3 | 12 | 114676361 | G | A |
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 | 1645 |
|---|---|
| Disease | schinzel syndrome |
| Case | (Waiting for update.) |