Cortical dysplasia with other brain malformations | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1	C3808397 614039 OMIM:614039	KIF26A	Unknown	—	Disgenet	Motor proteins MHC class II antigen presentation COPI-dependent Golgi-to-ER retrograde traffic +1 more
		TUBB2B	Unknown	—	Disgenet	Phagosome Gap junction Motor proteins +31 more
		TUBB3	Unknown	—	CTD, Disgenet, HPO	Phagosome Gap junction Motor proteins +31 more
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10	618677 C5231458 MONDO:0032866	APC2	Causal	22573669 31585108	ClinVar, Disgenet, GWAS catalog, HPO	Wnt signaling pathway Hippo signaling pathway Signaling pathways regulating pluripotency of stem cells +13 more
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 11	620156 C5774270 MONDO:0859332	KIF26A	Causal	36228617 36564622	CTD, ClinVar, Disgenet, HPO	Motor proteins MHC class II antigen presentation COPI-dependent Golgi-to-ER retrograde traffic +1 more
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 12	620316 C5830407 MONDO:0957217	CAMSAP1	Causal	25363768 28472652 36283405	ClinVar, Disgenet, HPO, Orphanet	—
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 13	614563 C3281202 OMIM:614563	DYNC1H1	Unknown	—	CTD, Disgenet, HPO	Phagosome Motor proteins Vasopressin-regulated water reabsorption +21 more
		HIVEP2	Unknown	—	Disgenet	—
		MED13	Unknown	—	Disgenet	Thyroid hormone signaling pathway PPARA activates gene expression Generic Transcription Pathway +1 more
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 14A	606854	ADGRG1	Unknown	—	HPO	—
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 14B	615752	ADGRG1	Unknown	—	HPO	—
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 15	618737 C5231486	TUBGCP2	Unknown	—	Disgenet, HPO	Recruitment of mitotic centrosome proteins and complexes Recruitment of NuMA to mitotic centrosomes
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2	615282 C3809013 OMIM:615282	KIF5C	Unknown	—	CTD, Disgenet, HPO	Endocytosis Dopaminergic synapse Motor proteins +8 more
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3	615411 C3809414 OMIM:615411	KIF2A	Unknown	—	CTD, Disgenet, HPO	Motor proteins Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal MHC class II antigen presentation +7 more
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4	615412 C3809420 OMIM:615412	TUBG1	Unknown	—	CTD, Disgenet, HPO	Motor proteins Human papillomavirus infection Regulation of PLK1 Activity at G2/M Transition +6 more
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5	C3810407 615763 OMIM:615763	BPHL	Unknown	—	Disgenet	POLB-Dependent Long Patch Base Excision Repair Phase I - Functionalization of compounds
	C3810407 615763 OMIM:615763	TUBB2A	Unknown	—	CTD, Disgenet, HPO	Phagosome Gap junction Motor proteins +31 more
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6	615771 C4014283 OMIM:615771	TUBB	Unknown	—	CTD, Disgenet, HPO	Phagosome Gap junction Motor proteins +16 more
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7	610031 C3552236 OMIM:610031	TUBB2B	Unknown	—	CTD, Disgenet, HPO	Phagosome Gap junction Motor proteins +31 more
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9	618174 C4748540 MONDO:0032578	CTNNA2	Causal	24986827 26700408 28250917 28600779 29302074 30013181	ClinVar, Disgenet, GWAS catalog, HPO	Hippo signaling pathway Adherens junction Leukocyte transendothelial migration +6 more