eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| spondylocarpotarsal synostosis | ||||
| Disease ID | 1932 |
|---|---|
| Disease | spondylocarpotarsal synostosis |
| Synonym | congenital scoliosis with unilateral unsegmented bar congenital synspondylism scoliosis, congenital, with unilateral unsegmented bar sct syndrome spondylocarpotarsal syndrome spondylocarpotarsal synostosis syndrome spondylocarpotarsal synostosis syndrome (disorder) synspondylism, congenital vertebral fusion with carpal coalition |
| Orphanet | |
| OMIM | |
| UMLS | C1848934 |
| 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 | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) FLNB | 3p14.3 |
| Disease ID | 1932 |
|---|---|
| Disease | spondylocarpotarsal synostosis |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1932 |
|---|---|
| Disease | spondylocarpotarsal synostosis |
| 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:7) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121908897 | NA | 2317 | FLNB | umls:C1848934 | CLINVAR | NA | 0.440542884 | NA | FLNB | 3 | 58148771 | C | T |
| rs121908898 | NA | 2317 | FLNB | umls:C1848934 | CLINVAR | NA | 0.440542884 | NA | FLNB | 3 | 58146043 | G | T |
| rs80356517 | NA | 2317 | FLNB | umls:C1848934 | CLINVAR | NA | 0.440542884 | NA | FLNB | 3 | 58108461 | C | T |
| rs80356518 | NA | 2317 | FLNB | umls:C1848934 | CLINVAR | NA | 0.440542884 | NA | FLNB;LOC105377105 | 3 | 58163161 | T | G |
| rs80356519 | NA | 2317 | FLNB | umls:C1848934 | CLINVAR | NA | 0.440542884 | NA | FLNB | 3 | 58110138 | C | T |
| rs80356520 | NA | 2317 | FLNB | umls:C1848934 | CLINVAR | NA | 0.440542884 | NA | FLNB | 3 | 58136126 | C | G,T |
| rs80356521 | NA | 2317 | FLNB | umls:C1848934 | CLINVAR | NA | 0.440542884 | NA | FLNB | 3 | 58153415 | C | - |
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 | 1932 |
|---|---|
| Disease | spondylocarpotarsal synostosis |
| Case | (Waiting for update.) |