SLC18A3, solute carrier family 18 member A3, 6572

N. diseases: 117; N. variants: 3
Disease: Arthrogryposis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.420 Biomarker disease GENOMICS_ENGLAND 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: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.420 GeneticVariation disease BEFREE 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: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.420 Biomarker disease BEFREE Loss of function of VAChT underlies severe arthrogryposis and respiratory failure. 28188302 2017
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.420 Biomarker disease HPO