Gene: LINC02245 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs761533681
rs761533681
SLC1A4 ; LINC02245 ; LOC107984063
T 0.700 CausalMutation CLINVAR Novel European SLC1A4 variant: infantile spasms and population ancestry analysis. 27193218

2016
dbSNP: rs761533681
rs761533681
SLC1A4 ; LINC02245 ; LOC107984063
T 0.700 CausalMutation CLINVAR A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly. 25930971

2015
dbSNP: rs761533681
rs761533681
SLC1A4 ; LINC02245 ; LOC107984063
T 0.700 CausalMutation CLINVAR Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination. 26041762

2015
dbSNP: rs761533681
rs761533681
SLC1A4 ; LINC02245 ; LOC107984063
T 0.700 CausalMutation CLINVAR SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum. 26138499

2015
dbSNP: rs761533681
rs761533681
SLC1A4 ; LINC02245 ; LOC107984063
T 0.700 CausalMutation CLINVAR L-serine synthesis in the central nervous system: a review on serine deficiency disorders. 19963421

2010
dbSNP: rs761533681
rs761533681
SLC1A4 ; LINC02245 ; LOC107984063
T 0.700 CausalMutation CLINVAR Calmodulin and protein kinase C cross-talk: the MARCKS protein is an actin filament and plasma membrane cross-linking protein regulated by protein kinase C phosphorylation and by calmodulin. 1395931

1992