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 De novo mutations in the TUBA1A gene are responsible for a wide spectrum of neuronal migration disorders, ranging from lissencephaly to perisylvian pachygyria. 22948023 2013
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: 347733
Gene Symbol: TUBB2B
TUBB2B 		0.310 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: 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: 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: 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: 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: 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 Biomarker disease HPO
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: 60
Gene Symbol: ACTB
ACTB 		0.110 Biomarker disease HPO
Entrez Id: 7436
Gene Symbol: VLDLR
VLDLR 		0.110 Biomarker disease HPO
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1 		0.110 Biomarker disease HPO
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 Biomarker disease HPO
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: 284403
Gene Symbol: WDR62
WDR62 		0.110 Biomarker disease BEFREE The loss of WDR62 in human leads to microcephaly and pachygyria. 30091641 2018