Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 150094
Gene Symbol: SIK1
SIK1
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.300 Biomarker CLINGEN Epilepsy-causing sequence variations in SIK1 disrupt synaptic activity response gene expression and affect neuronal morphology. 27966542

2017
Entrez Id: 150094
Gene Symbol: SIK1
SIK1
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.300 Biomarker CLINGEN Here we report six unrelated individuals with mutations in salt-inducible kinase 1 (SIK1) in a series of 101 persons with early myoclonic encephalopathy, Ohtahara syndrome, and infantile spasms. 25839329

2015