Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
CORNEAL DYSTROPHIES, HEREDITARY	MESH:D003317	VSX1	Unknown	11978762	CTD	—
CORNEAL DYSTROPHY	C0010036 MONDO_0018102 MONDO:0018102	COL17A1	Causal	—	Disgenet	Protein digestion and absorption Collagen biosynthesis and modifying enzymes Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell +3 more
		GRHL2	Causal	—	Disgenet	—
		SLC4A11	Causal	—	Disgenet	—
		TGFBI	Causal	—	Disgenet	Amyloid fiber formation
		ZEB1	Causal	—	Disgenet	Transcriptional misregulation in cancer MicroRNAs in cancer Prostate cancer +1 more
		ANTXR1	Unknown	39024449	GWAS catalog	NOD-like receptor signaling pathway Uptake and function of anthrax toxins
		CHRNB1	Unknown	39024449	GWAS catalog	Neuroactive ligand-receptor interaction
		COL24A1	Unknown	39024449	GWAS catalog	Cytoskeleton in muscle cells Protein digestion and absorption Collagen biosynthesis and modifying enzymes +3 more
		COL5A1	Unknown	39024449	GWAS catalog	Cytoskeleton in muscle cells Protein digestion and absorption Collagen degradation +10 more
		CYP4V2	Unknown	—	Disgenet	Endogenous sterols The canonical retinoid cycle in rods (twilight vision)
		ELOVL4	Unknown	—	Disgenet	Fatty acid elongation Biosynthesis of unsaturated fatty acids Metabolic pathways +1 more
		GDPD5	Unknown	39024449	GWAS catalog	—
		ITPA	Unknown	—	Disgenet	Purine metabolism Drug metabolism - other enzymes Metabolic pathways +2 more
		KANK4	Unknown	39024449	GWAS catalog	—
		KERA	Unknown	—	Disgenet	Keratan sulfate biosynthesis Keratan sulfate degradation Defective CHST6 causes MCDC1 +2 more
		KLKB1	Unknown	—	Disgenet	Complement and coagulation cascades Intrinsic Pathway of Fibrin Clot Formation Activation of Matrix Metalloproteinases
		KRT12	Unknown	—	Disgenet	Estrogen signaling pathway Staphylococcus aureus infection Keratinization +1 more
		LAMB1	Unknown	39024449	GWAS catalog	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +9 more
		RXRA	Unknown	39024449	GWAS catalog	PPAR signaling pathway Efferocytosis PI3K-Akt signaling pathway +39 more
		SPARCL1	Unknown	39169229	GWAS catalog	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein phosphorylation
		TACSTD2	Unknown	—	Disgenet	—
		TCF4	Unknown	39024449	GWAS catalog	Myogenesis
		VSX1	Unknown	—	Disgenet	—
CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS	217400 C1857572 MESH:C535473	SLC4A11	Unknown	—	CTD, Disgenet, HPO	—
CORNEAL DYSTROPHY AVELLINO TYPE	MESH:C535474	TGFBI	Unknown	—	CTD	Amyloid fiber formation
CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE 1	MESH:C535476	TGFBI	Unknown	—	CTD	Amyloid fiber formation
CORNEAL DYSTROPHY, AVELLINO TYPE	607541	TGFBI	Unknown	—	HPO	Amyloid fiber formation
CORNEAL DYSTROPHY, CONGENITAL STROMAL	610048 C1864738 MESH:C566452	DCN	Unknown	—	CTD, Disgenet, HPO	TGF-beta signaling pathway Cytoskeleton in muscle cells Proteoglycans in cancer +12 more
CORNEAL DYSTROPHY, CONGENITAL STROMAL	610048 C1864738 MESH:C566452	SPARCL1	Unknown	—	Disgenet	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein phosphorylation
CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER	MESH:C535475	UBIAD1	Unknown	—	CTD	Metabolism of vitamin K
CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE	121820 C0521723 MESH:C535477	TGFBI	Unknown	—	CTD, Disgenet, HPO	Amyloid fiber formation
CORNEAL DYSTROPHY, FLECK	121850 MESH:C563256	PIKFYVE	Unknown	—	CTD, HPO	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system +5 more
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1	136800 C1850959 MONDO:0007637	COL8A2	Causal	11689488 15914606 18024822 18464802	ClinVar, Disgenet, GWAS catalog, HPO	Protein digestion and absorption Collagen degradation Collagen biosynthesis and modifying enzymes +3 more
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3	613267 C2750451 MESH:C567678 MONDO:0013203	TCF4	Causal	—	CTD, ClinVar, Disgenet, GenCC, HPO	Myogenesis
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4	613268 C2750450 MESH:C567677 MONDO:0013204	SLC4A11	Causal	20848555 24502824	CTD, ClinVar, Disgenet, GWAS catalog, HPO	—
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6	613270 C2750448 MESH:C567675 MONDO:0013206	ZEB1	Causal	—	CTD, ClinVar, Disgenet, GenCC, HPO	Transcriptional misregulation in cancer MicroRNAs in cancer Prostate cancer +1 more
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8	615523 C3809798 MONDO:0014228 OMIM:615523	AGBL1	Unknown	24094747	CTD, ClinVar, Disgenet, GWAS catalog, HPO	—
CORNEAL DYSTROPHY, FUCHS' ENDOTHELIAL, 1	MESH:C535478	COL8A2	Unknown	—	CTD	Protein digestion and absorption Collagen degradation Collagen biosynthesis and modifying enzymes +3 more
CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE	204870 MESH:C535480	TACSTD2	Unknown	—	CTD, HPO	—
CORNEAL DYSTROPHY, GROENOUW TYPE I	121900	TGFBI	Unknown	—	HPO	Amyloid fiber formation
CORNEAL DYSTROPHY, JUVENILE EPITHELIAL OF MEESMANN	C0339277 MESH:D053559	KRT12	Unknown	—	CTD, Disgenet	Estrogen signaling pathway Staphylococcus aureus infection Keratinization +1 more
CORNEAL DYSTROPHY, JUVENILE EPITHELIAL OF MEESMANN	C0339277 MESH:D053559	KRT3	Unknown	—	Disgenet	Keratinization Formation of the cornified envelope
CORNEAL DYSTROPHY, LATTICE TYPE 3	C0339273	TACSTD2	Unknown	—	Disgenet	—
CORNEAL DYSTROPHY, LATTICE TYPE 3A	MONDO:0012044	TGFBI	Causal	—	ClinVar	Amyloid fiber formation
CORNEAL DYSTROPHY, LATTICE TYPE I	122200	TGFBI	Unknown	—	HPO	Amyloid fiber formation
CORNEAL DYSTROPHY, LATTICE TYPE IIIA	608471 C1837974 MESH:C563923	TGFBI	Unknown	—	CTD, Disgenet, HPO	Amyloid fiber formation
CORNEAL DYSTROPHY, LISCH EPITHELIAL	620763 C2749050 MESH:C567588	MCOLN1	Unknown	—	CTD, Disgenet, HPO	Calcium signaling pathway Lysosome TRP channels +1 more
CORNEAL DYSTROPHY, MEESMANN, 1	122100 C5231499 MONDO:0020791	KRT12	Causal	9399908 9171831 16227835 26788030 10612503 30535821 26758872	ClinVar, Disgenet, GWAS catalog, HPO	Estrogen signaling pathway Staphylococcus aureus infection Keratinization +1 more
CORNEAL DYSTROPHY, MEESMANN, 1	122100 C5231499 MONDO:0020791	KRT3	Unknown	16227835 18806880 19337156 21176769 26788030 9171831	Disgenet, GWAS catalog	Keratinization Formation of the cornified envelope
CORNEAL DYSTROPHY, MEESMANN, 2	618767 C5231495 MONDO:0032904	KRT3	Causal	16227835 26788030 9171831	ClinVar, Disgenet, GWAS catalog, HPO	Keratinization Formation of the cornified envelope
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1	122000 C1852555 MESH:C562745	OVOL2	Unknown	26749309	CTD, Disgenet, HPO	—
		SLC4A11	Unknown	—	Disgenet	—
		VSX1	Unknown	—	Disgenet	—
		ZEB1	Unknown	—	Disgenet	Transcriptional misregulation in cancer MicroRNAs in cancer Prostate cancer +1 more
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2	609140 C1852795 MESH:C565176	COL8A2	Unknown	—	CTD, Disgenet, HPO	Protein digestion and absorption Collagen degradation Collagen biosynthesis and modifying enzymes +3 more
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3	609141 C1836724 MESH:C563788	ZEB1	Unknown	—	CTD, Disgenet, HPO	Transcriptional misregulation in cancer MicroRNAs in cancer Prostate cancer +1 more
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4	618031 C4747961 MONDO:0054832	GRHL2	Causal	—	ClinVar, Disgenet, HPO	—
CORNEAL DYSTROPHY, PUNCTIFORM AND POLYCHROMATIC PRE-DESCEMET	619871 C5676982 MONDO:0859248	PRDX3	Causal	31782998	ClinVar, Disgenet, GWAS catalog, HPO	Detoxification of Reactive Oxygen Species
CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE	608470	TGFBI	Unknown	—	HPO	Amyloid fiber formation
CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE	602082 MESH:C535942	TGFBI	Unknown	—	CTD, HPO	Amyloid fiber formation
CORNEAL DYSTROPHY-PERCEPTIVE DEAFNESS SYNDROME	1490 MONDO:0009015	SLC4A11	Causal	17220209 17679935 18474783 18922146 24916015	ClinVar, GWAS catalog, Orphanet	—

Corneal dystrophy

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