KATNB1, katanin regulatory subunit B1, 10300

N. diseases: 42; N. variants: 6
Disease: LISSENCEPHALY 6 WITH MICROCEPHALY ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4015525
Disease: LISSENCEPHALY 6 WITH MICROCEPHALY
LISSENCEPHALY 6 WITH MICROCEPHALY 		0.700 Biomarker disease GENOMICS_ENGLAND A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation. 26640080 2016
CUI: C4015525
Disease: LISSENCEPHALY 6 WITH MICROCEPHALY
LISSENCEPHALY 6 WITH MICROCEPHALY 		0.700 GeneticVariation disease UNIPROT Katanin p80 regulates human cortical development by limiting centriole and cilia number. 25521379 2014
CUI: C4015525
Disease: LISSENCEPHALY 6 WITH MICROCEPHALY
LISSENCEPHALY 6 WITH MICROCEPHALY 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors. 25521378 2014
CUI: C4015525
Disease: LISSENCEPHALY 6 WITH MICROCEPHALY
LISSENCEPHALY 6 WITH MICROCEPHALY 		0.700 GeneticVariation disease UNIPROT Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors. 25521378 2014
CUI: C4015525
Disease: LISSENCEPHALY 6 WITH MICROCEPHALY
LISSENCEPHALY 6 WITH MICROCEPHALY 		0.700 Biomarker disease CTD_human
CUI: C4015525
Disease: LISSENCEPHALY 6 WITH MICROCEPHALY
LISSENCEPHALY 6 WITH MICROCEPHALY 		0.700 CausalMutation disease CLINVAR