eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| atelosteogenesis | ||||
| Disease ID | 1980 |
|---|---|
| Disease | atelosteogenesis |
| Synonym | ao1 aoi atelosteogenesis (disorder) atelosteogenesis type 1 atelosteogenesis type i atelosteogenesis, type 1 atelosteogenesis, type i atelosteogenesis/diastrophic dysplasia group atelosteogenesis/diastrophic dysplasia group (disorder) giant cell chondrodysplasia spondylohumerofemoral hypoplasia |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0265283 |
| 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:7) |
| Locus | (Waiting for update.) |
| Disease ID | 1980 |
|---|---|
| Disease | atelosteogenesis |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1980 |
|---|---|
| Disease | atelosteogenesis |
| 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:11) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121908894 | NA | 2317 | FLNB | umls:C0265283 | CLINVAR | NA | 0.481357209 | NA | FLNB | 3 | 58077271 | C | T |
| rs121908895 | NA | 2317 | FLNB | umls:C0265283 | CLINVAR | NA | 0.481357209 | NA | FLNB | 3 | 58078779 | A | G |
| rs28937586 | 14991055 | 2317 | FLNB | umls:C0265283 | UNIPROT | We found homozygosity or compound heterozygosity with respect to stop-codon mutations in autosomal recessive spondylocarpotarsal syndrome (SCT, OMIM 272460) and missense mutations in individuals with autosomal dominant Larsen syndrome (OMIM 150250) and the perinatal lethal atelosteogenesis I and III phenotypes (AOI, OMIM 108720; AOIII, OMIM 108721). | 0.481357209 | 2004 | NA | NA | NA | NA | NA |
| rs28939707 | 14991055 | 2317 | FLNB | umls:C0265283 | UNIPROT | We found homozygosity or compound heterozygosity with respect to stop-codon mutations in autosomal recessive spondylocarpotarsal syndrome (SCT, OMIM 272460) and missense mutations in individuals with autosomal dominant Larsen syndrome (OMIM 150250) and the perinatal lethal atelosteogenesis I and III phenotypes (AOI, OMIM 108720; AOIII, OMIM 108721). | 0.481357209 | 2004 | NA | NA | NA | NA | NA |
| rs587777259 | NA | 2317 | FLNB | umls:C0265283 | CLINVAR | NA | 0.481357209 | NA | FLNB | 3 | 58077270 | G | A |
| rs80356493 | NA | 2317 | FLNB | umls:C0265283 | CLINVAR | NA | 0.481357209 | NA | FLNB | 3 | 58077195 | T | A |
| rs80356494 | NA | 2317 | FLNB | umls:C0265283 | CLINVAR | NA | 0.481357209 | NA | FLNB | 3 | 58077265 | T | A,G |
| rs80356495 | NA | 2317 | FLNB | umls:C0265283 | CLINVAR | NA | 0.481357209 | NA | FLNB | 3 | 58078717 | G | T |
| rs80356496 | NA | 2317 | FLNB | umls:C0265283 | CLINVAR | NA | 0.481357209 | NA | FLNB | 3 | 58078724 | C | G |
| rs80356497 | NA | 2317 | FLNB | umls:C0265283 | CLINVAR | NA | 0.481357209 | NA | FLNB | 3 | 58078783 | A | C |
| rs80356498 | NA | 2317 | FLNB | umls:C0265283 | CLINVAR | NA | 0.481357209 | NA | FLNB | 3 | 58136054 | GAC | - |
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 | 1980 |
|---|---|
| Disease | atelosteogenesis |
| Case | (Waiting for update.) |