Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7846
Gene Symbol: TUBA1A
TUBA1A 		0.340 Biomarker disease MGD Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans. 17218254 2007
Entrez Id: 7846
Gene Symbol: TUBA1A
TUBA1A 		0.340 GeneticVariation disease BEFREE This hypothesis was subsequently confirmed by the identification of TUBA1A mutations in two patients with lissencephaly and pachygyria, respectively. 17584854 2007
Entrez Id: 7846
Gene Symbol: TUBA1A
TUBA1A 		0.340 Biomarker disease HPO
Entrez Id: 347733
Gene Symbol: TUBB2B
TUBB2B 		0.310 Biomarker disease MGD A mutation in Tubb2b, a human polymicrogyria gene, leads to lethality and abnormal cortical development in the mouse. 23727838 2013
Entrez Id: 347733
Gene Symbol: TUBB2B
TUBB2B 		0.310 GeneticVariation disease BEFREE We identified three new TUBB2B mutations in three unrelated patients (3 out of 128; 2.3%) with a diffuse and rather symmetrical cortical abnormality, including diffuse polymicrogyria in two and bilateral regional pachygyria in one. 22333901 2012
Entrez Id: 347733
Gene Symbol: TUBB2B
TUBB2B 		0.310 Biomarker disease HPO
Entrez Id: 170302
Gene Symbol: ARX
ARX 		0.300 Biomarker disease MGD Three human ARX mutations cause the lissencephaly-like and mental retardation with epilepsy-like pleiotropic phenotypes in mice. 19605412 2009
Entrez Id: 170302
Gene Symbol: ARX
ARX 		0.300 Biomarker disease MGD Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. 12379852 2002
Entrez Id: 170302
Gene Symbol: ARX
ARX 		0.300 Biomarker disease HPO
Entrez Id: 3912
Gene Symbol: LAMB1
LAMB1 		0.300 Biomarker disease CTD_human
Entrez Id: 1605
Gene Symbol: DAG1
DAG1 		0.300 Biomarker disease MGD
Entrez Id: 160418
Gene Symbol: TMTC3
TMTC3 		0.300 Biomarker disease CTD_human
Entrez Id: 1605
Gene Symbol: DAG1
DAG1 		0.300 Biomarker disease HPO
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2 		0.200 Biomarker disease MGD Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits. 21962519 2011
Entrez Id: 7545
Gene Symbol: ZIC1
ZIC1 		0.200 Biomarker disease MGD
Entrez Id: 8738
Gene Symbol: CRADD
CRADD 		0.120 GeneticVariation disease BEFREE Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population. 31506600 2020
Entrez Id: 8738
Gene Symbol: CRADD
CRADD 		0.120 GeneticVariation disease BEFREE Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population. 30914828 2019
Entrez Id: 8738
Gene Symbol: CRADD
CRADD 		0.120 Biomarker disease HPO
Entrez Id: 284403
Gene Symbol: WDR62
WDR62 		0.110 Biomarker disease BEFREE The loss of WDR62 in human leads to microcephaly and pachygyria. 30091641 2018
Entrez Id: 3796
Gene Symbol: KIF2A
KIF2A 		0.110 GeneticVariation disease BEFREE Genetic findings reported by our group and others showed that de novo missense variants in the KIF2A gene underlie malformations of brain development called pachygyria and microcephaly. 29077851 2018
Entrez Id: 7283
Gene Symbol: TUBG1
TUBG1 		0.110 GeneticVariation disease BEFREE Variants in TUBG1 have been described in three patients with posterior predominant pachygyria and microcephaly. 29706637 2018
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		0.110 GeneticVariation disease BEFREE Nearly all patients with ACTG1 mutations, and around 60% of those with ACTB mutations have some degree of pachygyria with anteroposterior severity gradient, rarely lissencephaly or neuronal heterotopia. 25052316 2015
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		0.110 GeneticVariation disease BEFREE Heterozygous ACTG1 mutations are responsible for Baraitser-Winter cerebrofrontofacial syndrome which cortical malformation is characterized by pachygyria with frontal to occipital gradient of severity. 26188271 2015
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1 		0.110 GeneticVariation disease BEFREE We found potentially causal mutations in the candidate genes DYNC1H1, KIF5C, and other kinesin genes in persons with pachygyria. 25140959 2014
Entrez Id: 7436
Gene Symbol: VLDLR
VLDLR 		0.110 Biomarker disease BEFREE Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy. 20082205 2010