Agenesis of corpus callosum | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME	MONDO:0030065	CDH2	Causal	31585109 31650526	GWAS catalog, ClinGen	Cell adhesion molecules Arrhythmogenic right ventricular cardiomyopathy Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) +3 more
AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY	MONDO:0000902	SLC12A6	Causal	12368912 17893295 21628467 16606917	GWAS catalog	Cation-coupled Chloride cotransporters Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN)