Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23236
Gene Symbol: PLCB1
PLCB1 		0.600 Biomarker disease GENOMICS_ENGLAND Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy. 20833646 2010
Entrez Id: 23236
Gene Symbol: PLCB1
PLCB1 		0.600 GeneticVariation disease CLINVAR
Entrez Id: 23236
Gene Symbol: PLCB1
PLCB1 		0.600 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 23236
Gene Symbol: PLCB1
PLCB1 		0.600 Biomarker disease CTD_human
Entrez Id: 11284
Gene Symbol: PNKP
PNKP 		0.100 CausalMutation disease 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 		0.100 CausalMutation disease CLINVAR Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4. 25728773 2015
Entrez Id: 11284
Gene Symbol: PNKP
PNKP 		0.100 CausalMutation disease CLINVAR Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations. 23224214 2013
Entrez Id: 11284
Gene Symbol: PNKP
PNKP 		0.100 CausalMutation disease 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 		0.100 CausalMutation disease CLINVAR Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. 20118933 2010