Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10300
Gene Symbol: KATNB1
KATNB1 		0.400 GermlineCausalMutation disease ORPHANET Human mutations in KATNB1, which encodes the noncatalytic regulatory p80 subunit of katanin, cause severe microlissencephaly. 25521379 2014
Entrez Id: 10300
Gene Symbol: KATNB1
KATNB1 		0.400 GermlineCausalMutation disease ORPHANET Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors. 25521378 2014
Entrez Id: 10300
Gene Symbol: KATNB1
KATNB1 		0.400 Biomarker disease HPO
Entrez Id: 54820
Gene Symbol: NDE1
NDE1 		0.320 Biomarker disease BEFREE Phenotypic spectrum of NDE1-related disorders: from microlissencephaly to microhydranencephaly. 30637988 2019
Entrez Id: 54820
Gene Symbol: NDE1
NDE1 		0.320 GeneticVariation disease BEFREE Recently homozygous NDE1 mutations were reported in three kindred afflicted with extreme microcephaly with lissencephaly or microlissencephaly. 22526350 2012
Entrez Id: 54820
Gene Symbol: NDE1
NDE1 		0.320 GermlineCausalMutation disease ORPHANET Here, we report two families with extreme microcephaly and grossly simplified cortical gyral structure, a condition referred to as microlissencephaly, and show that they carry homozygous frameshift mutations in NDE1, which encodes a multidomain protein that localizes to the centrosome and mitotic spindle poles. 21529751 2011
Entrez Id: 54820
Gene Symbol: NDE1
NDE1 		0.320 GermlineCausalMutation disease ORPHANET The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis. 21529752 2011
Entrez Id: 284403
Gene Symbol: WDR62
WDR62 		0.310 GeneticVariation disease BEFREE Sequencing of a cohort of five patients with WDR62 mutations, including one with an identical mutation and different phenotype, plus 12 individuals with diagnosis of microlissencephaly and another individual with mild intellectual disability (ID) and a 17q25 duplication, did not reveal TBCD mutations. 24842779 2014
Entrez Id: 7283
Gene Symbol: TUBG1
TUBG1 		0.310 GeneticVariation disease BEFREE The core phenotype of TUBA1A and TUBG1 tubulinopathies are lissencephalies and microlissencephalies, whereas TUBB2B tubulinopathies show in the majority, centrally predominant polymicrogyria-like cortical dysplasia. 24860126 2014
Entrez Id: 7283
Gene Symbol: TUBG1
TUBG1 		0.310 Biomarker disease CTD_human Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 23603762 2013
Entrez Id: 284403
Gene Symbol: WDR62
WDR62 		0.310 Biomarker disease CTD_human Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. 20890278 2010
Entrez Id: 284403
Gene Symbol: WDR62
WDR62 		0.310 Biomarker disease CTD_human WDR62 is associated with the spindle pole and is mutated in human microcephaly. 20890279 2010
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A 		0.300 Biomarker disease CTD_human Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions. 30478443 2019
Entrez Id: 29980
Gene Symbol: DONSON
DONSON 		0.300 Biomarker disease CTD_human Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism. 28191891 2017
Entrez Id: 8364
Gene Symbol: H4C3
H4C3 		0.300 Biomarker disease CTD_human Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control. 28920961 2017
Entrez Id: 6904
Gene Symbol: TBCD
TBCD 		0.300 Biomarker disease CTD_human Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy. 27666370 2016
Entrez Id: 10293
Gene Symbol: TRAIP
TRAIP 		0.300 Biomarker disease CTD_human TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. 26595769 2016
Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A 		0.300 Biomarker disease CTD_human Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity. 27399968 2016
Entrez Id: 6904
Gene Symbol: TBCD
TBCD 		0.300 Biomarker disease CTD_human Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy. 27666374 2016
Entrez Id: 55906
Gene Symbol: ZC4H2
ZC4H2 		0.300 Biomarker disease CTD_human ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons. 26056227 2015
Entrez Id: 84879
Gene Symbol: MFSD2A
MFSD2A 		0.300 Biomarker disease CTD_human A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome. 26005865 2015
Entrez Id: 84879
Gene Symbol: MFSD2A
MFSD2A 		0.300 Biomarker disease CTD_human Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome. 26005868 2015
Entrez Id: 10733
Gene Symbol: PLK4
PLK4 		0.300 Biomarker disease CTD_human Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy. 25344692 2014
Entrez Id: 10617
Gene Symbol: STAMBP
STAMBP 		0.300 Biomarker disease CTD_human Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. 23542699 2013
Entrez Id: 3800
Gene Symbol: KIF5C
KIF5C 		0.300 Biomarker disease CTD_human Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 23603762 2013