Disease: Muscle hypotonia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs761621368
rs761621368
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy. 27844444 2017
dbSNP: rs761621368
rs761621368
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population. 26657971 2015
dbSNP: rs761621368
rs761621368
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations. 25891276 2015