eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| juvenile spinal muscular atrophy | ||||
| Disease ID | 1725 |
|---|---|
| Disease | juvenile spinal muscular atrophy |
| Definition | A rare, autosomal recessive inherited disorder caused by mutations in the SMN1 gene. It is characterized by progressive degeneration and loss of the anterior horn cells in the spinal cord and brain stem. It is manifested with hypotonia and muscle weakness, usually in late childhood or adolescence. Affected individuals can stand and walk but walking and climbing stairs becomes progressively difficult. |
| Synonym | familial spinal muscular atrophy juvenile muscular atrophy kugelberg welander dis kugelberg welander disease kugelberg welander syndrome kugelberg-welander dis kugelberg-welander disease kugelberg-welander disease (disorder) kugelberg-welander syndrome kws muscular atrophy, juvenile muscular atrophy, spinal, type iii sma iii sma type iii sma3 spinal muscular atrophy iii spinal muscular atrophy type 3 spinal muscular atrophy type iii spinal muscular atrophy, familial spinal muscular atrophy, juvenile spinal muscular atrophy, mild childhood and adolescent form spinal muscular atrophy, type 3 spinal muscular atrophy, type iii type iii spinal muscular atrophy wohlfart-kugelberg-welan syndrome |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0152109 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:10) 548596 | CKMT1A | 2.765 | DISEASES 4151 | MB | 1.129 | DISEASES 10724 | MGEA5 | 1.398 | DISEASES 4671 | NAIP | 4.735 | DISEASES 404552 | SCGB1D4 | 2.513 | DISEASES 6331 | SCN5A | 1.504 | DISEASES 6606 | SMN1 | 6.144 | DISEASES 6607 | SMN2 | 4.913 | DISEASES 10011 | SRA1 | 2.558 | DISEASES 9217 | VAPB | 2.957 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1725 |
|---|---|
| Disease | juvenile spinal muscular atrophy |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1725 |
|---|---|
| Disease | juvenile spinal muscular atrophy |
| 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:9) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104893927 | NA | 6606 | SMN1 | umls:C0152109 | CLINVAR | NA | 0.442714419 | NA | SMN1 | 5 | 70942367 | G | C |
| rs104893931 | NA | 6606 | SMN1 | umls:C0152109 | CLINVAR | NA | 0.442714419 | NA | SMN1 | 5 | 70938888 | A | T |
| rs104893932 | NA | 6606 | SMN1 | umls:C0152109 | CLINVAR | NA | 0.442714419 | NA | SMN1 | 5 | 70946126 | A | G |
| rs397514517 | NA | 6606 | SMN1 | umls:C0152109 | CLINVAR | NA | 0.442714419 | NA | SMN1 | 5 | 70942473 | A | G |
| rs397514518 | NA | 6606 | SMN1 | umls:C0152109 | CLINVAR | NA | 0.442714419 | NA | SMN1 | 5 | 70942472 | T | C |
| rs75030631 | NA | 6606 | SMN1 | umls:C0152109 | CLINVAR | NA | 0.442714419 | NA | SMN1;LOC105379017 | 5 | 70925108 | C | G |
| rs75660264 | NA | 6606 | SMN1 | umls:C0152109 | CLINVAR | NA | 0.442714419 | NA | SMN1 | 5 | 70946127 | G | T |
| rs76871093 | NA | 6606 | SMN1 | umls:C0152109 | CLINVAR | NA | 0.442714419 | NA | SMN1 | 5 | 70946163 | C | T |
| rs77804083 | NA | 6606 | SMN1 | umls:C0152109 | CLINVAR | NA | 0.442714419 | NA | SMN1 | 5 | 70942389 | 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) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1725 |
|---|---|
| Disease | juvenile spinal muscular atrophy |
| Case | (Waiting for update.) |