Table 1

Examples of genes mapped from significant loci associated with cortical phenotypes8^*

Group	Gene	Region(s)	Disorder(s)
Brain information	TUBB — Class I beta-tubulin 6p21.33	Posterolateral temporal area	Complex cortical dysplasia (white matter streaks, dysmorphic basal ganglia, corpus callosum abnormalities, brainstem and cerebellar hypoplasia, cortical dysplasia, polymicrogyria)
	PTCH1 — Patched 1 protein 9q22.32	Occipital area, posterolateral temporal area	Nonsyndromic holoprosencephaly
	ZIC1 — Zinc family member 1 3q24	Inferior parietal area, dorsolateral prefrontal area	Dandy–Walker malformation
	ZIC4 — Zinc family member 4 3q24	Superior parietal area, inferior parietal area, dorsolateral prefrontal area
Developmental disorders	ASH1L — Histone lysine methyl transferase 1q22	Anteromedial temporal area, occipital area	ASD
	SYNGAP1 — Synaptic Ras GTPase-activating protein 1 6p21.32	Posterolateral temporal area
	CPD — Carboxypeptidase D 17q11.2	Precuneus area	Nonsyndromic hearing loss
	MSRB3 — Methionine sulfoxide reductase B3 12q14.3	Dorsomedial frontal area, precuneus area, posterolateral temporal area
	MYO6 — Myosin 6 6q14.1	Perisylvian thickness
	OTOGL — Otogelin-like protein 12q21.31	Precuneus area
	TRIOBP — TRIO and F-actin-binding protein 22q13.1	Temporal pole thickness, superior parietal thickness
Syndromic disorders	RIT1 — Ras-like without CAAX 1 1q22	Anteromedial temporal area, occipital area	Noonan syndrome
	BBS9 — Bardet–Biedl syndrome 9 7p14.3	Inferior parietal area	Bardet–Biedl syndrome
	BCS1L — Ubiquinol-cytochrome c reductase synthesis-like 2q35	Ventral frontal thickness, temporal pole thickness, motor-premotor-SMA thickness	Leigh syndrome
Neurodegenerative disorders	GBA — Glucosylceramidase beta 1q22	Anteromedial temporal area, occipital area	Parkinson disease, dementia with Lewy bodies
Neurodegenerative disorders	MAPT — Microtubule associated protein tau 17q21.31	Anteromedial temporal area, orbitofrontal area, ventral frontal thickness, perisylvian thickness	Frontotemporal dementia with parkinsonism, progressive supranuclear palsy
Psychiatric disorders	MSRA^† — Methionine sulfoxide reductase A 8p23.1	Motor-premotor area, perisylvian thickness	Bipolar disorder, schizophrenia, ASD, alcohol use disorder
Psychiatric disorders	MHC locus^† — Major histocompatibility complex 6p21.3	Posterolateral temporal area	Bipolar disorder, schizophrenia, major depressive disorder, mood disorders

ASD = autism spectrum disorder; GWAS = genome-wide association study.
↵* A full list of disease-related genes, defined by the NIH Genetics Home reference database (the current MedlinePlus Genetics) and the Online Mendelian Inheritance in Man (OMIM) catalogue, can be found in supplementary Table 11 (title: “Significant mapped genes associated with neurodevelopmental and neurodegenerative disorders, defined by the NIH Genetics Home reference database”) of Makowski et al.8
↵† Genes identified by recent GWASs.41 Gene positions are based on the Genome Reference Consortium human build 37 (GRCh37)/hg19 assembly.