KATNB1, katanin regulatory subunit B1, 10300

N. diseases: 42; N. variants: 6
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
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
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
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
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		0.100 Biomarker disease HPO
CUI: C0266483
Disease: Pachygyria
Pachygyria 		0.100 Biomarker disease HPO
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia 		0.100 Biomarker disease HPO
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.100 Biomarker disease HPO
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 Biomarker disease HPO
CUI: C0431368
Disease: Partial agenesis of corpus callosum
Partial agenesis of corpus callosum 		0.100 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		0.100 Biomarker phenotype HPO
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		0.100 Biomarker phenotype HPO
CUI: C2749675
Disease: Cortical gyral simplification
Cortical gyral simplification 		0.100 Biomarker phenotype HPO