Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy. 27844444

2017
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy. 27844444

2017
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations. 25891276

2015
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations. 25891276

2015
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population. 26657971

2015
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population. 26657971

2015