Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
X-linked infantile spasms
CUI: C4552072
Disease: X-linked infantile spasms
0.700 GeneticVariation CLINVAR UniProt: a hub for protein information. 25348405 2015
X-linked infantile spasms
CUI: C4552072
Disease: X-linked infantile spasms
0.700 GeneticVariation CLINVAR A catalog of SCN1A variants. 18804930 2009