Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4768412
rs4768412
Entrez Id: 144165
Gene Symbol: PRICKLE1
PRICKLE1
CUI: C0018213
Disease:
Graves Disease 		T 0.800 GeneticVariation GWASCAT Seven newly identified loci for autoimmune thyroid disease. 22922229 2012
dbSNP: rs4768412
rs4768412
Entrez Id: 144165
Gene Symbol: PRICKLE1
PRICKLE1
CUI: C0018213
Disease:
Graves Disease 		0.800 GeneticVariation GWASDB Seven newly identified loci for autoimmune thyroid disease. 22922229 2012
dbSNP: rs281865564
rs281865564
Entrez Id: 144165
Gene Symbol: PRICKLE1
PRICKLE1
CUI: C2676254
Disease:
Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia 		0.800 GeneticVariation UNIPROT Mutations in prickle orthologs cause seizures in flies, mice, and humans. 21276947 2011
dbSNP: rs281865564
rs281865564
Entrez Id: 144165
Gene Symbol: PRICKLE1
PRICKLE1
CUI: C2676254
Disease:
Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia 		0.800 GeneticVariation UNIPROT A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. 18976727 2008
dbSNP: rs281865564
rs281865564
Entrez Id: 144165
Gene Symbol: PRICKLE1
PRICKLE1
CUI: C2676254
Disease:
Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia 		G 0.800 CausalMutation CLINVAR
dbSNP: rs1551210
rs1551210
Entrez Id: 144165
Gene Symbol: PRICKLE1
PRICKLE1
CUI: C0005845
Disease:
Blood urea nitrogen measurement 		T 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
dbSNP: rs281865563
rs281865563
Entrez Id: 144165
Gene Symbol: PRICKLE1
PRICKLE1
CUI: C2676254
Disease:
Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia 		0.700 GeneticVariation UNIPROT Mutations in prickle orthologs cause seizures in flies, mice, and humans. 21276947 2011
dbSNP: rs3213989
rs3213989
Entrez Id: 144165
Gene Symbol: PRICKLE1
PRICKLE1
CUI: C0008312
Disease:
Primary biliary cirrhosis 		0.700 GeneticVariation GWASDB Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. 21399635 2011
dbSNP: rs4768412
rs4768412
Entrez Id: 144165
Gene Symbol: PRICKLE1
PRICKLE1
CUI: C0008312
Disease:
Primary biliary cirrhosis 		0.700 GeneticVariation GWASDB Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. 21399635 2011
dbSNP: rs281865563
rs281865563
Entrez Id: 144165
Gene Symbol: PRICKLE1
PRICKLE1
CUI: C2676254
Disease:
Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia 		0.700 GeneticVariation UNIPROT A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. 18976727 2008
dbSNP: rs113994140
rs113994140
Entrez Id: 144165
Gene Symbol: PRICKLE1
PRICKLE1
CUI: C2676254
Disease:
Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs762434475
rs762434475
Entrez Id: 144165
Gene Symbol: PRICKLE1
PRICKLE1
CUI: C4552072
Disease:
X-linked infantile spasms 		0.010 GeneticVariation BEFREE Reported here is a young boy with a new variant (NM_153026.2:c.820G>A, p.Ala274Thr) presenting with an early infantile epileptic encephalopathy with developmental arrest. 30345727 2018