KATNB1, katanin regulatory subunit B1, 10300

N. diseases: 42; N. variants: 6
Disease: Microcephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.130 GeneticVariation disease BEFREE Human mutations in KATNB1 (p80) cause severe congenital cortical malformations, which encompass the clinical features of both microcephaly and lissencephaly. 28079116 2017
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.130 GeneticVariation disease 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
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.130 Biomarker disease BEFREE Loss of KATNB1 orthologs in zebrafish (katnb1) and flies (kat80) results in microcephaly, recapitulating the human phenotype. 25521378 2014
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.130 Biomarker disease HPO