Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
AUTOSOMAL DOMINANT OPTIC ATROPHY	MONDO:0020250	SPG7	Unknown	16534102 18799786 22571692 33598982 34500365 9635427	Disgenet
AUTOSOMAL DOMINANT OPTIC ATROPHY AND CATARACT	67036	OPA3	Unknown	15342707	Orphanet
AUTOSOMAL DOMINANT OPTIC ATROPHY CLASSIC FORM		OPA1	Causal	—	ClinVar
AUTOSOMAL DOMINANT OPTIC ATROPHY PLUS SYNDROME	1215 MONDO:0014720	OPA1	Unknown	18158317 22776096	GWAS catalog Orphanet
AUTOSOMAL DOMINANT OPTIC ATROPHY, CLASSIC FORM	98673 MONDO:0008134	DNM1L	Unknown	28969390	GWAS catalog Orphanet
AUTOSOMAL DOMINANT OPTIC ATROPHY, CLASSIC FORM	98673 MONDO:0008134	OPA1	Unknown	20301426	GenCC Orphanet
AUTOSOMAL RECESSIVE ISOLATED OPTIC ATROPHY	98676 C5680331	ACO2	Unknown	25351951	Disgenet Orphanet
		GUCY2D	Unknown	—	Disgenet
		MCAT	Unknown	31915829	Disgenet Orphanet
		MECR	Unknown	37734847	Orphanet
		RTN4IP1	Unknown	26593267	Disgenet Orphanet
		YME1L1	Unknown	27495975	Disgenet Orphanet
AUTOSOMAL RECESSIVE OPTIC ATROPHY	MONDO:0014753	ACO2	Unknown	25351951	GWAS catalog
		MCAT	Unknown	31915829	CTD
		RTN4IP1	Unknown	26593267	GenCC
		YME1L1	Unknown	27495975	GWAS catalog
AUTOSOMAL RECESSIVE OPTIC ATROPHY TYPE 7	C5190807	TMEM126A	Unknown	—	Disgenet
AUTOSOMAL RECESSIVE OPTIC ATROPHY, OPA7 TYPE	227976 MONDO:0013069	TMEM126A	Causal	19327736 20405026 22815638 23500070 30961538 31119195 33879611 33882309 36071901	ClinGen ClinVar GWAS catalog Orphanet
OPTIC ATROPHY	C0029124 MONDO:0003608MONDO_0003608	ABCA4	Causal	—	Disgenet
		ABCC6	Causal	—	Disgenet
		ACO2	Causal	—	Disgenet
		AFG3L2	Causal	—	Disgenet
		BBS7	Causal	—	Disgenet
		CACNA1F	Causal	—	Disgenet
		CNGA3	Causal	—	Disgenet
		CNGB3	Causal	—	Disgenet
		DNAJC30	Causal	—	Disgenet
		GPR179	Causal	—	Disgenet
		GUCY2D	Causal	—	Disgenet
		MECR	Causal	—	Disgenet
		OAT	Causal	—	Disgenet
		OPA1	Causal	7951248	Disgenet GenCC
		PEX1	Causal	—	Disgenet
		PIGQ	Causal	—	Disgenet
		RP1L1	Causal	—	Disgenet
		RTN4IP1	Causal	—	Disgenet
		SPG7	Causal	—	Disgenet
		WFS1	Causal	—	Disgenet
		ABHD12	Unknown	—	Disgenet
		ADGRA3	Unknown	—	Disgenet
		ADGRV1	Unknown	—	Disgenet
		AHI1	Unknown	—	Disgenet
		ALMS1	Unknown	—	Disgenet
		AP5Z1	Unknown	—	Disgenet
		ARHGEF18	Unknown	—	Disgenet
		ARL6	Unknown	—	Disgenet
		ATP6V1G3	Unknown	35121771	GWAS catalog
		BBS10	Unknown	—	Disgenet
		BBS9	Unknown	—	Disgenet
		C1QTNF5	Unknown	—	Disgenet

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Optic atrophy