Spondyloepimetaphyseal dysplasia with joint laxity
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Spondyloepimetaphyseal dysplasia with joint laxity | 93359 | B3GALT6 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |
| EXOC6B | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - | ||
| Spondyloepimetaphyseal Dysplasia With Joint Laxity | C0432243 | B3GALT6 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 23664117, 23664118 | - |
| EXOC6B | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 26669664, 30284759 | - |