Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23236
Gene Symbol: PLCB1
PLCB1
CUI: C3150988
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 		0.600 GeneticVariation CLINVAR

Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C3150988
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 		0.100 CausalMutation CLINVAR Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 25558065

2015
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C3150988
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 		0.100 CausalMutation CLINVAR Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4. 25728773

2015
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C3150988
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 		0.100 CausalMutation CLINVAR Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations. 23224214

2013
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C3150988
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 		0.100 CausalMutation CLINVAR Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair. 22508754

2012
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C3150988
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 		0.100 CausalMutation CLINVAR Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. 20118933

2010