SLC35A2, solute carrier family 35 member A2, 7355

N. diseases: 197; N. variants: 18
Disease: Muscle hypotonia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1557043622
rs1557043622
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019