Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 144165
Gene Symbol: PRICKLE1
PRICKLE1 		prickle planar cell polarity protein 1 0.647 0.615 1.00
CUI: C2676254
Disease: Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia
Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia 		disease 0.700 None 1.000 0 2 2008 2011
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24 		TBC1 domain family member 24 0.530 0.808 1.3E-08
CUI: C2676254
Disease: Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia
Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia 		disease 0.100 None 0 1