KATNB1, katanin regulatory subunit B1, 10300

N. diseases: 42; N. variants: 6
Disease: Microlissencephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly 		0.400 GermlineCausalMutation disease ORPHANET Human mutations in KATNB1, which encodes the noncatalytic regulatory p80 subunit of katanin, cause severe microlissencephaly. 25521379 2014
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly 		0.400 GermlineCausalMutation disease ORPHANET Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors. 25521378 2014
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly 		0.400 Biomarker disease HPO