Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
POLYMICROGYRIA	C0266464	AKT3	Causal	—	Disgenet
		ATP1A2	Causal	—	Disgenet
		DYNC1H1	Causal	—	Disgenet
		EHMT1	Causal	—	Disgenet
		OFD1	Causal	—	Disgenet
		SCN3A	Causal	—	Disgenet
		SETD5	Causal	—	Disgenet
		BORCS5	Unknown	—	Disgenet
		DHX37	Unknown	—	Disgenet
		ENTPD1	Unknown	—	Disgenet
		LAMA2	Unknown	—	Disgenet
		LAMA5	Unknown	—	Disgenet
		LINGO4	Unknown	—	Disgenet
		PEX1	Unknown	—	Disgenet
		PSMC3	Unknown	—	Disgenet
		WDR62	Unknown	—	Disgenet
POLYMICROGYRIA DUE TO TUBB2B MUTATION	300573	TUBB2B	Unknown	19465910	Orphanet
POLYMICROGYRIA DUE TO TUBULIN BETA 2B CLASS IIB MUTATION	C5681081	TUBB2B	Unknown	—	Disgenet
POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA	250972 C2750798 MONDO:0013172	TUBA8	Unknown	19896110 28388629 29265763 29348930 31481326 609528	ClinGen Disgenet GWAS catalog Orphanet
POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME	618343 C5193040 MONDO:0032688	COL3A1	Causal	19455184 25205403 28258187 28742248	ClinVar Disgenet GWAS catalog HPO
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	C1847352 MESH:C564652	ADGRG1	Unknown	—	CTD Disgenet
POLYMICROGYRIA, BILATERAL OCCIPITAL	MESH:C567201	FIG4	Unknown	—	CTD
POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE	C3810405 MONDO:0014333	ADGRG1	Causal	—	ClinVar Disgenet
POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE	C3810405 MONDO:0014333	CCND2	Unknown	—	Disgenet
POLYMICROGYRIA, BILATERAL PERISYLVIAN, X-LINKED	MONDO:0010314	SRPX2	Unknown	16497722	CTD
POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL	612691 C4013648	FIG4	Unknown	—	Disgenet HPO
POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS	MONDO:0014679	PI4KA	Causal	25855803 34415310 34415322	ClinVar Disgenet
UNILATERAL POLYMICROGYRIA	C4024960	NSDHL	Unknown	—	Disgenet

Polymicrogyria