Periventricular nodular heterotopia | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
HETEROTOPIA, PERIVENTRICULAR, ASSOCIATED WITH CHROMOSOME 5Q DELETION	C2752071	MAP1B	Unknown	—	Disgenet	Viral life cycle - HIV-1
	C2752071	NEDD4L	Unknown	—	Disgenet	Ubiquitin mediated proteolysis Endocytosis Tight junction +5 more
HETEROTOPIA, PERIVENTRICULAR, AUTOSOMAL RECESSIVE	C1842563 MESH:C564292	ARFGEF2	Unknown	—	CTD, Disgenet	Endocytosis
		DCHS1	Unknown	24056717	CTD, Disgenet	Hippo signaling pathway - multiple species
		FAT4	Unknown	24056717	CTD, Disgenet	Hippo signaling pathway - multiple species
HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT	C1845235 MESH:C564492	FLNA	Unknown	15668422	CTD, Disgenet	MAPK signaling pathway Focal adhesion Salmonella infection +6 more
HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT	MONDO:0010233	FLNA	Causal	17172441 19289478 21169733 26471271 9883725	ClinVar, GWAS catalog	MAPK signaling pathway Focal adhesion Salmonella infection +6 more
PERIVENTRICULAR NODULAR HETEROTOPIA	C1868720 98892 MESH:D054091 MONDO:0020341	ATP2B1	Causal	—	Disgenet	Calcium signaling pathway cGMP-PKG signaling pathway cAMP signaling pathway +9 more
		BRCA1	Causal	—	Disgenet	Platinum drug resistance Homologous recombination Fanconi anemia pathway +19 more
		FLNA	Causal	11914408 9883725 16684786 16825286 17172441 18427995 19917821 20301392 22076441 23032111 24089482 29449050	CTD, ClinGen, Disgenet, Orphanet	MAPK signaling pathway Focal adhesion Salmonella infection +6 more
		MAP1B	Causal	29738522 30150678 31317654 33772511 37460233	ClinGen, Disgenet, Orphanet	Viral life cycle - HIV-1
		ARF1	Unknown	25305484 28868155 34353862 36345169 37118341 37185208 38014604	ClinGen, Disgenet, GWAS catalog, Orphanet	Phospholipase D signaling pathway Endocytosis Vibrio cholerae infection +15 more
		ARFGEF2	Unknown	14647276 25160555	Disgenet, Orphanet	Endocytosis
		BAG6	Unknown	—	Disgenet	Protein export
		ERMARD	Unknown	24056535	CTD, ClinGen, Disgenet, GWAS catalog, Orphanet	—
		NEDD4L	Unknown	27694961	CTD, Disgenet, Orphanet	Ubiquitin mediated proteolysis Endocytosis Tight junction +5 more
		TMTC3	Unknown	27773428 28973161	Disgenet, Orphanet	—
PERIVENTRICULAR NODULAR HETEROTOPIA 1	300049	FLNA	Unknown	11532987 11914408 14988809 15994863 16299064 18427995 19917821 20014127 20871226 20888935 21194575 22366253 23032111 23037936 23873601 25686753 26059841 26471271 27739212 28040145 28660794 28898549 29146485 29237676 29449050 30089473 33143682 33298907	HPO, ClinGen	MAPK signaling pathway Focal adhesion Salmonella infection +6 more
PERIVENTRICULAR NODULAR HETEROTOPIA 6	615544 C3809872 MONDO:0014240	ERMARD	Causal	—	ClinVar, Disgenet, GenCC, HPO, ClinGen	—
PERIVENTRICULAR NODULAR HETEROTOPIA 7	617201 C4310669 MONDO:0014966	NEDD4L	Causal	27694961 28515470 30393983 32117442 34087865	ClinGen, ClinVar, Disgenet, HPO	Ubiquitin mediated proteolysis Endocytosis Tight junction +5 more
PERIVENTRICULAR NODULAR HETEROTOPIA 8	618185 C4748602 MONDO:0032588	ARF1	Causal	28868155 33057194 34353862	ClinVar, Disgenet, GWAS catalog, HPO, ClinGen	Phospholipase D signaling pathway Endocytosis Vibrio cholerae infection +15 more
PERIVENTRICULAR NODULAR HETEROTOPIA 9	618918 C5394503 MONDO:0030061	MAP1B	Causal	29738522 30150678 31317654 8577753	CTD, ClinVar, Disgenet, HPO, ClinGen	Viral life cycle - HIV-1