Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
JUVENILE MACULAR DEGENERATION	C4282180	ABCA4	Unknown	—	Disgenet	ABC transporters Retinoid cycle disease events The canonical retinoid cycle in rods (twilight vision) +1 more
JUVENILE MACULAR DEGENERATION AND HYPOTRICHOSIS	MESH:C537698	CDH3	Unknown	—	CTD	Cell adhesion molecules Adherens junctions interactions
MACULAR DEGENERATION	C0024437 MESH:D008268 EFO_0009606	ABCA4	Causal	16968212	CTD, Disgenet	ABC transporters Retinoid cycle disease events The canonical retinoid cycle in rods (twilight vision) +1 more
		CNGA3	Causal	—	Disgenet	cAMP signaling pathway Olfactory transduction
		PRPH2	Causal	—	Disgenet	—
		ADIPOR1	Unknown	—	Disgenet	Hormone signaling AMPK signaling pathway Longevity regulating pathway +4 more
		APOE	Unknown	16453339 39024449	CTD, Disgenet, GWAS catalog	Cholesterol metabolism Alzheimer disease Nuclear signaling by ERBB4 +10 more
		ARMS2	Unknown	17884985 18511946 21909106 39024449	CTD, Disgenet, GWAS catalog	—
		BBS10	Unknown	—	Disgenet	BBSome-mediated cargo-targeting to cilium
		BEST1	Unknown	—	Disgenet	Stimuli-sensing channels
		C1QTNF5	Unknown	16123441	CTD, Disgenet	—
		C2	Unknown	16518403	CTD, Disgenet	Complement and coagulation cascades Alcoholic liver disease Pertussis +6 more
		C3	Unknown	17767156 24036949 24036950 24036952 39024449	CTD, Disgenet, GWAS catalog	Neuroactive ligand-receptor interaction Phagosome Complement and coagulation cascades +24 more
		C9	Unknown	24036952 39024449	CTD, Disgenet, GWAS catalog	Complement and coagulation cascades Regulation of actin cytoskeleton Prion disease +5 more
		CACNG3	Unknown	—	Disgenet	MAPK signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +8 more
		CD46	Unknown	39024449	GWAS catalog	Virion - Ebolavirus, Lyssavirus and Morbillivirus Virion - Adenovirus Complement and coagulation cascades +2 more
		CETP	Unknown	39024449	GWAS catalog	Cholesterol metabolism LDL remodeling HDL remodeling +1 more
		CFB	Unknown	16518403	CTD, Disgenet	Complement and coagulation cascades Staphylococcus aureus infection Coronavirus disease - COVID-19 +3 more
		CFH	Unknown	16518403 16754848 17554167 21909106 22019782 26691988 39024449	CTD, Disgenet, GWAS catalog	Complement and coagulation cascades Staphylococcus aureus infection Regulation of Complement cascade
		CFI	Unknown	23685748 24036952 26691988 39024449	CTD, Disgenet, GWAS catalog	Complement and coagulation cascades Staphylococcus aureus infection Regulation of Complement cascade
		CLUL1	Unknown	39024449	GWAS catalog	—
		COL10A1	Unknown	39024449	GWAS catalog	Protein digestion and absorption Collagen degradation Collagen biosynthesis and modifying enzymes +3 more
		CRP	Unknown	—	Disgenet	Classical antibody-mediated complement activation
		CX3CR1	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction Viral protein interaction with cytokine and cytokine receptor Chemokine signaling pathway +3 more
		ERCC2	Unknown	—	Disgenet	Basal transcription factors Nucleotide excision repair Formation of RNA Pol II elongation complex +19 more
		ERCC6	Unknown	16754848	CTD, Disgenet	Nucleotide excision repair B-WICH complex positively regulates rRNA expression Formation of TC-NER Pre-Incision Complex +4 more
		ESR1	Unknown	—	Disgenet	Endocrine resistance Hormone signaling Estrogen signaling pathway +21 more
		FAM8A1	Unknown	39024449	GWAS catalog	—
		FSCN2	Unknown	—	Disgenet	—
		GSR	Unknown	—	Disgenet	Glutathione metabolism Metabolic pathways Thyroid hormone synthesis +4 more
		GSTM1	Unknown	—	Disgenet	Glutathione metabolism Metabolism of xenobiotics by cytochrome P450 Drug metabolism - cytochrome P450 +10 more
		HERC2	Unknown	39024449	GWAS catalog	Ubiquitin mediated proteolysis SUMOylation of DNA damage response and repair proteins Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks +4 more
		HERPUD1	Unknown	39024449	GWAS catalog	Protein processing in endoplasmic reticulum ATF4 activates genes in response to endoplasmic reticulum stress
		HIC1	Unknown	30742112	CTD, Disgenet	SUMOylation of transcription factors
		HMCN1	Unknown	—	Disgenet	—
		HTRA1	Unknown	—	Disgenet	Degradation of the extracellular matrix
		IL17A	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction IL-17 signaling pathway Th17 cell differentiation +5 more
		KCNT2	Unknown	39024449	GWAS catalog	—
		KDR	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance MAPK signaling pathway Ras signaling pathway +13 more
		MMP2	Unknown	—	Disgenet	Endocrine resistance Leukocyte transendothelial migration GnRH signaling pathway +15 more
		ND4	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Thermogenesis +11 more
		NFE2L2	Unknown	—	Disgenet	Protein processing in endoplasmic reticulum Parkinson disease Pathways in cancer +4 more
		NLRP4	Unknown	39024449	GWAS catalog	Pathogenic Escherichia coli infection IRF3 mediated activation of type 1 IFN Regulation of innate immune responses to cytosolic DNA +1 more
		NMNAT1	Unknown	22842229	CTD, Disgenet	Nicotinate and nicotinamide metabolism Metabolic pathways Biosynthesis of cofactors +1 more
		NQO1	Unknown	—	Disgenet	Ubiquinone and other terpenoid-quinone biosynthesis Metabolic pathways Biosynthesis of cofactors +5 more
		NT5DC1	Unknown	39024449	GWAS catalog	—
		PARP12	Unknown	30742112	CTD, Disgenet	—
		PDGFB	Unknown	39024449	GWAS catalog	EGFR tyrosine kinase inhibitor resistance MAPK signaling pathway Ras signaling pathway +25 more
		PON1	Unknown	—	Disgenet	Synthesis of 5-eicosatetraenoic acids
		PPARGC1A	Unknown	—	Disgenet	AMPK signaling pathway Longevity regulating pathway Apelin signaling pathway +12 more
		RAD51B	Unknown	39024449	GWAS catalog	Homologous recombination HDR through Homologous Recombination (HRR) Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) +4 more

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Macular degeneration

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