KATNB1, katanin regulatory subunit B1, 10300

N. diseases: 42; N. variants: 6
Disease: Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures 		0.310 Biomarker phenotype GENOMICS_ENGLAND Homozygous and compound heterozygous mutations in KATNB1 have very recently been described as a cause of microcephaly with brain malformations and seizures. 26640080 2016
CUI: C0036572
Disease: Seizures
Seizures 		0.310 GeneticVariation phenotype BEFREE Homozygous and compound heterozygous mutations in KATNB1 have very recently been described as a cause of microcephaly with brain malformations and seizures. 26640080 2016