SLC18A2, solute carrier family 18 member A2, 6571

N. diseases: 150; 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: rs1293033867
rs1293033867
Entrez Id: 6571
Gene Symbol: SLC18A2
SLC18A2
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder. 26497564 2016
dbSNP: rs1431337923
rs1431337923
Entrez Id: 6571
Gene Symbol: SLC18A2
SLC18A2
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder. 26497564 2016
dbSNP: rs1293033867
rs1293033867
Entrez Id: 6571
Gene Symbol: SLC18A2
SLC18A2
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. 26539891 2015
dbSNP: rs1431337923
rs1431337923
Entrez Id: 6571
Gene Symbol: SLC18A2
SLC18A2
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. 26539891 2015
dbSNP: rs1293033867
rs1293033867
Entrez Id: 6571
Gene Symbol: SLC18A2
SLC18A2
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR Brain dopamine-serotonin vesicular transport disease and its treatment. 23363473 2013
dbSNP: rs1293033867
rs1293033867
Entrez Id: 6571
Gene Symbol: SLC18A2
SLC18A2
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network. 23911319 2013
dbSNP: rs1431337923
rs1431337923
Entrez Id: 6571
Gene Symbol: SLC18A2
SLC18A2
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network. 23911319 2013
dbSNP: rs1431337923
rs1431337923
Entrez Id: 6571
Gene Symbol: SLC18A2
SLC18A2
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Brain dopamine-serotonin vesicular transport disease and its treatment. 23363473 2013