rs386834124, CLN8

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 GeneticVariation CLINVAR Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy. 27844444 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 GeneticVariation CLINVAR Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population. 26657971 2015
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 GeneticVariation CLINVAR Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations. 25891276 2015