Gene: PNKP ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 11284
Gene Symbol: PNKP
PNKP 		0.410 Biomarker phenotype BEFREE We describe a previously unknown autosomal recessive disease characterized by microcephaly, early-onset, intractable seizures and developmental delay (denoted MCSZ). 20118933 2010
Entrez Id: 11284
Gene Symbol: PNKP
PNKP 		0.410 Biomarker phenotype CTD_human Unlike other DNA repair defects that affect humans, PNKP mutations universally cause severe seizures. 20118933 2010
Entrez Id: 11284
Gene Symbol: PNKP
PNKP 		0.410 Biomarker phenotype HPO