Disease: X-linked infantile spasms ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.320 GeneticVariation disease BEFREE Among the four known isoforms, HCN1 is the most expressed in the neocortex and hippocampus and de novo HCN1 point mutations have been recently associated with early infantile epileptic encephalopathy. 29936235 2018
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.320 GeneticVariation disease BEFREE De novo mutations in HCN1 cause early infantile epileptic encephalopathy. 24747641 2014
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.320 Biomarker disease CTD_human De novo mutations in HCN1 cause early infantile epileptic encephalopathy. 24747641 2014