Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
CATARACT, ANTERIOR POLAR	C1855179	CRYAA	Unknown	—	Disgenet	Protein processing in endoplasmic reticulum
		CRYBA2	Unknown	—	Disgenet	—
		CRYBB3	Unknown	—	Disgenet	—
		CRYGB	Unknown	—	Disgenet	—
CATARACT, AUTOSOMAL DOMINANT	C1858679 MESH:C565815	CRYAA	Unknown	—	CTD, Disgenet	Protein processing in endoplasmic reticulum
CATARACT, AUTOSOMAL DOMINANT	C1858679 MESH:C565815	PITX3	Unknown	—	Disgenet	—
CATARACT, AUTOSOMAL DOMINANT, MULTIPLE TYPES 1	MESH:C566909	BFSP2	Unknown	—	CTD	—
CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2	C1864908 MESH:C535337	FYCO1	Unknown	—	CTD, Disgenet	Salmonella infection
CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 3	C2751822 MESH:C567835	FOXE3	Unknown	—	CTD, Disgenet	—
CATARACT, CENTRAL SACCULAR, WITH SUTURAL OPACITIES	C1854021	BFSP2	Unknown	—	Disgenet	—
		CRYBA1	Unknown	—	Disgenet	—
		CRYBB2	Unknown	—	Disgenet	—
		CRYGS	Unknown	—	Disgenet	—
		GJA8	Unknown	—	Disgenet	Gap junction assembly
		MIP	Unknown	—	Disgenet	Passive transport by Aquaporins
CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 1	C1836272	MYH9	Unknown	—	Disgenet	Virion - Lassa virus and SFTS virus Vascular smooth muscle contraction Tight junction +8 more
CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2	C1857853 MESH:C565725	CRYBB3	Unknown	—	CTD, Disgenet	—
CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3	MESH:C566923	CRYBB1	Unknown	—	CTD	—
CATARACT, CONGENITAL ZONULAR, WITH SUTURAL OPACITIES	C1833229 MESH:C563435	CRYBA1	Unknown	—	CTD, Disgenet	—
CATARACT, CONGENITAL, CERULEAN TYPE 1	C0344523	CRYBB2	Unknown	—	Disgenet	—
		CRYGD	Unknown	—	Disgenet	—
		MAF	Unknown	—	Disgenet	Th1 and Th2 cell differentiation Transcriptional misregulation in cancer Inflammatory bowel disease
		MIP	Unknown	—	Disgenet	Passive transport by Aquaporins
CATARACT, CONGENITAL, CERULEAN TYPE, 2	C1832175	CRYBB2	Unknown	—	Disgenet	—
CATARACT, CONGENITAL, CERULEAN TYPE, 2	C1832175	RAG1	Unknown	—	Disgenet	FoxO signaling pathway Primary immunodeficiency MAPK6/MAPK4 signaling
CATARACT, COPPOCK-LIKE	C1852438 MESH:C565133	CRYGC	Unknown	—	CTD, Disgenet	—
CATARACT, CORTICAL, JUVENILE-ONSET	MESH:C566955	BFSP1	Unknown	—	CTD	—
CATARACT, NUCLEAR DIFFUSE NONPROGRESSIVE	MESH:C566157	VIM	Unknown	—	CTD	Cytoskeleton in muscle cells Epstein-Barr virus infection MicroRNAs in cancer +4 more
CATARACT, NUCLEAR PROGRESSIVE	C1846520 MESH:C564596	GJA8	Unknown	14627691	CTD, Disgenet	Gap junction assembly
CATARACT, NUCLEAR PROGRESSIVE	C1846520 MESH:C564596	PAX6	Unknown	—	Disgenet	Signaling pathways regulating pluripotency of stem cells Maturity onset diabetes of the young Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1) +1 more
CATARACT, POSTERIOR POLAR, 1	C1861825	EPHA2	Unknown	—	Disgenet	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +5 more
CATARACT, POSTERIOR POLAR, 3	C1854311 MESH:C535343	CHMP4B	Unknown	—	CTD, Disgenet	Viral life cycle - HIV-1 Virion - Hepatitis viruses Endocytosis +6 more
CATARACT, POSTERIOR POLAR, 4	C1864567 MESH:C535344	GBF1	Unknown	—	Disgenet	Endocytosis trans-Golgi Network Vesicle Budding VxPx cargo-targeting to cilium +2 more
CATARACT, POSTERIOR POLAR, 4	C1864567 MESH:C535344	PITX3	Unknown	15286169	CTD, Disgenet	—
CATARACT, PULVERULENT	C1833118	BFSP2	Unknown	—	Disgenet	—
		CRYBB1	Unknown	—	Disgenet	—
		CRYBB2	Unknown	—	Disgenet	—
		CRYGC	Unknown	—	Disgenet	—
		CRYGD	Unknown	—	Disgenet	—
		GJA3	Unknown	—	Disgenet	Gap junction assembly
		GJA8	Unknown	—	Disgenet	Gap junction assembly
		MAF	Unknown	—	Disgenet	Th1 and Th2 cell differentiation Transcriptional misregulation in cancer Inflammatory bowel disease
		VIM	Unknown	—	Disgenet	Cytoskeleton in muscle cells Epstein-Barr virus infection MicroRNAs in cancer +4 more
CATARACT, PULVERULENT, JUVENILE-ONSET	C1857768 MESH:C565703	MAF	Unknown	—	CTD, Disgenet	Th1 and Th2 cell differentiation Transcriptional misregulation in cancer Inflammatory bowel disease
CATARACT, ZONULAR	MESH:C535342	HSF4	Unknown	—	CTD	—
CATARACT, ZONULAR PULVERULENT 1	C1861828 MESH:C566158	GJA8	Unknown	—	CTD, Disgenet	Gap junction assembly
CATARACT, ZONULAR PULVERULENT 3	C1866078 MESH:C566608	GJA3	Unknown	—	CTD, Disgenet	Gap junction assembly
CONGENITAL CATARACT	C0009691	AGK	Unknown	—	Disgenet	Glycerolipid metabolism Metabolic pathways Glycerophospholipid biosynthesis +1 more
		BCOR	Unknown	—	Disgenet	Polycomb repressive complex
		BFSP1	Unknown	—	Disgenet	—
		BFSP2	Unknown	—	Disgenet	—
		C14ORF39	Unknown	—	Disgenet	—
		CHMP4B	Unknown	—	Disgenet	Viral life cycle - HIV-1 Virion - Hepatitis viruses Endocytosis +6 more
		COL4A1	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +20 more
		CRYAA	Unknown	—	Disgenet	Protein processing in endoplasmic reticulum
		CRYAB	Unknown	—	Disgenet	Protein processing in endoplasmic reticulum Longevity regulating pathway - multiple species HSF1-dependent transactivation
		CRYBA1	Unknown	—	Disgenet	—
		CRYBA2	Unknown	—	Disgenet	—
		CRYBA4	Unknown	—	Disgenet	—
		CRYBB1	Unknown	—	Disgenet	—
		CRYBB2	Unknown	—	Disgenet	—
		CRYBB3	Unknown	—	Disgenet	—
		CRYGA	Unknown	—	Disgenet	—
		CRYGB	Unknown	—	Disgenet	—
		CRYGC	Unknown	10521291 10914683 12011157 18618005 19204787 28298635	Disgenet	—
		CRYGD	Unknown	—	Disgenet	—
		CRYGS	Unknown	—	Disgenet	—
		CYP51A1	Unknown	22935719 25148791 27878435	Disgenet	Steroid biosynthesis Metabolic pathways Cholesterol biosynthesis +3 more
		EPHA2	Unknown	—	Disgenet	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +5 more
		ERO1B	Unknown	—	Disgenet	Protein processing in endoplasmic reticulum Insulin processing
		FBN1	Unknown	—	Disgenet	TGF-beta signaling pathway Cytoskeleton in muscle cells Degradation of the extracellular matrix +5 more
		FOXE3	Unknown	17893665 20806047 27218149 28418495 29136273	Disgenet	—
		FYCO1	Unknown	11519376 21636066 22935719 26622071	Disgenet	Salmonella infection
		GCNT2	Unknown	—	Disgenet	Glycosphingolipid biosynthesis - lacto and neolacto series Metabolic pathways
		GEMIN4	Unknown	—	Disgenet	snRNP Assembly
		GJA3	Unknown	—	Disgenet	Gap junction assembly
		GJA8	Unknown	—	Disgenet	Gap junction assembly
		HSF4	Unknown	—	Disgenet	—
		IARS2	Unknown	—	Disgenet	Aminoacyl-tRNA biosynthesis Mitochondrial tRNA aminoacylation
		LEMD2	Unknown	—	Disgenet	Nuclear Envelope Breakdown Initiation of Nuclear Envelope (NE) Reformation Depolymerisation of the Nuclear Lamina +1 more
		LIM2	Unknown	—	Disgenet	—
		LONP1	Unknown	—	Disgenet	—
		LSS	Unknown	—	Disgenet	Steroid biosynthesis Metabolic pathways Cholesterol biosynthesis +1 more
		MAF	Unknown	—	Disgenet	Th1 and Th2 cell differentiation Transcriptional misregulation in cancer Inflammatory bowel disease
		MIP	Unknown	—	Disgenet	Passive transport by Aquaporins
		NDUFB3	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		NECTIN3	Unknown	—	Disgenet	Cell adhesion molecules Adherens junction Adherens junctions interactions +1 more
		NHS	Unknown	—	Disgenet	—
		OCRL	Unknown	—	Disgenet	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system +7 more
		PAX6	Unknown	—	Disgenet	Signaling pathways regulating pluripotency of stem cells Maturity onset diabetes of the young Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1) +1 more
		PEX11B	Unknown	—	Disgenet	Peroxisome Class I peroxisomal membrane protein import
		PGRMC1	Unknown	—	Disgenet	Neuroactive ligand-receptor interaction Neutrophil degranulation
		PITX3	Unknown	—	Disgenet	—
		VIM	Unknown	19126778 26694549 28450710	Disgenet	Cytoskeleton in muscle cells Epstein-Barr virus infection MicroRNAs in cancer +4 more

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Congenital cataract

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