Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION	C2931845 MONDO:0018307PS234200MESH:C538421	ATP13A2	Causal	—	Disgenet
		C19ORF12	Causal	—	ClinVar
		COASY	Causal	—	Disgenet
		CP	Causal	—	ClinVar
		DCAF17	Causal	—	Disgenet
		FA2H	Causal	—	Disgenet
		PLA2G6	Causal	—	Disgenet
		WDR45	Causal	23435086	CTD Disgenet
		CRAT	Unknown	—	Disgenet
		FTH1	Unknown	—	Disgenet
		FTL	Unknown	—	ClinVar
		PANK2	Unknown	20629144	CTD Disgenet
		REPS1	Unknown	—	Disgenet
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1	234200	PANK2	Unknown	—	HPO
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A	256600 MONDO:0024457 OMIM:256600	PLA2G6	Unknown	—	CTD GenCC HPO
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B	610217 C1857747 MONDO:0012444	PLA2G6	Causal	—	ClinVar Disgenet GenCC HPO
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3	606159	FTL	Unknown	—	HPO
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4	OMIM:614298 614298 C3280371 MONDO:0013674	C19ORF12	Causal	21981780 23269600 24586779 26136767 31087512	CTD
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5	300894 C3550973 MONDO:0010476 OMIM:300894	WDR45	Causal	23176820 26000824 29981852 30169597	CTD ClinVar Disgenet GenCC HPO
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6	615643 MONDO:0014290 OMIM:615643	COASY	Causal	24360804 35499143	CTD ClinVar HPO
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7	617916 C4693583 MONDO:0054763	REPS1	Causal	190000 190010 29395073	ClinVar Disgenet GWAS catalog HPO
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8	617917 C4693587 MONDO:0054764	CRAT	Unknown	—	ClinVar Disgenet GenCC HPO
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9	620669 C5882740 MONDO:0958012	FTH1	Causal	—	ClinGen ClinVar Disgenet GenCC HPO
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9	620669 C5882740 MONDO:0958012	BEST1	Unknown	—	Disgenet

Neurodegeneration with brain iron accumulation