SEMA3A, semaphorin 3A, 10371

N. diseases: 202; N. variants: 19
Disease: Spondyloepimetaphyseal Dysplasia With Joint Laxity ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432243
Disease: Spondyloepimetaphyseal Dysplasia With Joint Laxity
Spondyloepimetaphyseal Dysplasia With Joint Laxity 		0.010 GeneticVariation disease BEFREE Pathogenic variants in B3GALT6 have also been shown to cause Ehlers-Danlos syndrome spondylodysplastic type (spEDS-B3GALT6) and spondyloepimetaphyseal dysplasia with joint laxity type I (SEMD-JL1). 29443383 2018