Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.020 GeneticVariation disease BEFREE Among these variations, CLN8 R24H was inherited in one family by three affected siblings from an affected father and thus co-segregated with ASD. 25806950 2015
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.020 GeneticVariation disease BEFREE This study does not support a contribution of rare missense CLN8 variations to ASD susceptibility in the Japanese population. 26657971 2015