Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 400958
Gene Symbol: LINC02245
LINC02245
0.100 CausalMutation disease CLINVAR Novel European SLC1A4 variant: infantile spasms and population ancestry analysis. 27193218 2016
Entrez Id: 400958
Gene Symbol: LINC02245
LINC02245
0.100 CausalMutation disease CLINVAR Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination. 26041762 2015
Entrez Id: 400958
Gene Symbol: LINC02245
LINC02245
0.100 CausalMutation disease CLINVAR A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly. 25930971 2015
Entrez Id: 400958
Gene Symbol: LINC02245
LINC02245
0.100 CausalMutation disease CLINVAR SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum. 26138499 2015
Entrez Id: 400958
Gene Symbol: LINC02245
LINC02245
0.100 CausalMutation disease CLINVAR L-serine synthesis in the central nervous system: a review on serine deficiency disorders. 19963421 2010
Entrez Id: 400958
Gene Symbol: LINC02245
LINC02245
0.100 CausalMutation disease 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