SLC18A3, solute carrier family 18 member A3, 6572

N. diseases: 117; N. variants: 3
Disease: Pena-Shokeir syndrome type I ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.310 GermlineCausalMutation disease ORPHANET Our results underline the importance of including SLC18A3 sequencing in the differential diagnostics of fetuses with arthrogryposis, FADS, or LMPS of unknown etiology. 31059209 2019
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.310 GeneticVariation disease BEFREE SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy. 31059209 2019