Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 144165
Gene Symbol: PRICKLE1
PRICKLE1 		0.700 GeneticVariation disease UNIPROT Mutations in prickle orthologs cause seizures in flies, mice, and humans. 21276947 2011
Entrez Id: 144165
Gene Symbol: PRICKLE1
PRICKLE1 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in prickle orthologs cause seizures in flies, mice, and humans. 21276947 2011
Entrez Id: 144165
Gene Symbol: PRICKLE1
PRICKLE1 		0.700 GeneticVariation disease UNIPROT A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. 18976727 2008
Entrez Id: 144165
Gene Symbol: PRICKLE1
PRICKLE1 		0.700 CausalMutation disease CLINVAR
Entrez Id: 144165
Gene Symbol: PRICKLE1
PRICKLE1 		0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 144165
Gene Symbol: PRICKLE1
PRICKLE1 		0.700 Biomarker disease CTD_human
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24 		0.100 CausalMutation disease CLINVAR
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7 		0.010 GeneticVariation disease BEFREE Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia. 25060828 2014