Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
USHER SYNDROME	C0271097	ATP6V1B1	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Phagosome +12 more
		C10ORF105	Unknown	—	Disgenet	—
		CABP4	Unknown	—	Disgenet	—
		CCDC40	Unknown	—	Disgenet	—
		COCH	Unknown	—	Disgenet	—
		COL4A4	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +20 more
		CRX	Unknown	—	Disgenet	—
		DGKQ	Unknown	—	Disgenet	Glycerolipid metabolism Glycerophospholipid metabolism Metabolic pathways +4 more
		FMC1	Unknown	—	Disgenet	—
		FMC1-LUC7L2	Unknown	—	Disgenet	—
		GUCA1A	Unknown	—	Disgenet	Phototransduction Inactivation, recovery and regulation of the phototransduction cascade
		GUCA1ANB-GUCA1A	Unknown	—	Disgenet	Phototransduction
		HDAC6	Unknown	—	Disgenet	Neutrophil extracellular trap formation Amyotrophic lateral sclerosis Alcoholism +8 more
		KIF11	Unknown	—	Disgenet	Motor proteins MHC class II antigen presentation COPI-dependent Golgi-to-ER retrograde traffic +1 more
		LUC7L2	Unknown	—	Disgenet	—
		OTOA	Unknown	—	Disgenet	Post-translational modification: synthesis of GPI-anchored proteins
		OTOP2	Unknown	—	Disgenet	—
		PAX3	Unknown	—	Disgenet	Transcriptional misregulation in cancer HATs acetylate histones
		PDE6A	Unknown	—	Disgenet	Purine metabolism Metabolic pathways Phototransduction +3 more
		PRPH2	Unknown	—	Disgenet	—
		SERPINB6	Unknown	—	Disgenet	Amoebiasis Neutrophil degranulation Dissolution of Fibrin Clot
		ZDHHC24	Unknown	—	Disgenet	—
USHER SYNDROME TYPE 2	231178 C0339534 MONDO:0016484	PDZD7	Unknown	20440071	Disgenet, Orphanet	—
USHER SYNDROME TYPE 2	231178 C0339534 MONDO:0016484	WHRN	Unknown	20301515	Disgenet, Orphanet	—
USHER SYNDROME TYPE 3	231183 MONDO:0016485	ARSG	Unknown	29300381	GWAS catalog, Orphanet	Lysosome Glycosphingolipid metabolism The activation of arylsulfatases
		CEP78	Unknown	27627988	GWAS catalog, Orphanet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +4 more
		HARS1	Unknown	22279524	ClinGen, GWAS catalog, Orphanet	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation
USHER SYNDROME TYPE 3B	MONDO:0013788	HARS1	Unknown	22279524 22930593 27353947 28632987	ClinVar, Disgenet	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation
USHER SYNDROME, TYPE 1A	C2931205	USH2A	Unknown	—	Disgenet	—
USHER SYNDROME, TYPE 1B	C2931206 MESH:C536485	MYO7A	Unknown	—	CTD, Disgenet	Motor proteins The canonical retinoid cycle in rods (twilight vision)
USHER SYNDROME, TYPE 1B	C2931206 MESH:C536485	USH1C	Unknown	—	CTD	—
USHER SYNDROME, TYPE 1C	MESH:C536486	USH1C	Unknown	12136232	CTD	—
USHER SYNDROME, TYPE 1D	MESH:C536487	CDH23	Unknown	—	CTD	—
USHER SYNDROME, TYPE 1D	MESH:C536487	PCDH15	Unknown	—	CTD	—
USHER SYNDROME, TYPE 1F	MESH:C536489	PCDH15	Unknown	—	CTD	—
USHER SYNDROME, TYPE 2A	MESH:C536490	PDZD7	Unknown	—	CTD	—
USHER SYNDROME, TYPE 2A	MESH:C536490	USH2A	Unknown	15025721 9624053	CTD	—
USHER SYNDROME, TYPE 2C	C2931213 MESH:C536492	ADGRV1	Unknown	—	CTD, Disgenet	—
USHER SYNDROME, TYPE 2C	C2931213 MESH:C536492	PDZD7	Unknown	—	CTD, Disgenet	—
USHER SYNDROME, TYPE I	C1568247 276900	ADGRV1	Unknown	—	Disgenet	—
		C10ORF105	Unknown	—	Disgenet	—
		CDH23	Unknown	—	Disgenet	—
		CIB2	Unknown	—	Disgenet	—
		ESPN	Unknown	29572253	Disgenet	—
		MYO7A	Unknown	—	Disgenet, HPO	Motor proteins The canonical retinoid cycle in rods (twilight vision)
		PCDH15	Unknown	—	Disgenet	—
		PSAP	Unknown	—	Disgenet	Sphingolipid metabolism Lysosome Platelet degranulation +4 more
		USH1C	Unknown	—	Disgenet, HPO	—
		USH1G	Unknown	—	Disgenet	—
		USH2A	Unknown	—	Disgenet	—
USHER SYNDROME, TYPE IC	276904 C1848604	USH1C	Unknown	—	Disgenet, HPO	—
USHER SYNDROME, TYPE ID	C1832845 601067	C10ORF105	Unknown	—	Disgenet	—
		CDH23	Unknown	—	Disgenet, HPO	—
		PCDH15	Unknown	—	Disgenet, HPO	—
		PSAP	Unknown	—	Disgenet	Sphingolipid metabolism Lysosome Platelet degranulation +4 more
USHER SYNDROME, TYPE IF	602083 C1865885	PCDH15	Unknown	—	Disgenet, HPO	—
USHER SYNDROME, TYPE IG	606943 C1847089 MESH:C564643	USH1G	Unknown	—	CTD, Disgenet, HPO	—
USHER SYNDROME, TYPE II	C1568249	USH2A	Unknown	—	Disgenet	—
USHER SYNDROME, TYPE II	C1568249	WHRN	Unknown	—	Disgenet	—
USHER SYNDROME, TYPE IIA	C1848634 276901	ADGRV1	Unknown	—	Disgenet	—
		CDH23	Unknown	11090341 11138009 15537665 21228398 25963016	Disgenet	—
		PDZD7	Unknown	—	Disgenet	—
		USH2A	Unknown	—	Disgenet, HPO	—
USHER SYNDROME, TYPE IIC	605472	ADGRV1	Unknown	—	HPO	—
USHER SYNDROME, TYPE IIC	605472	PDZD7	Unknown	—	HPO	—
USHER SYNDROME, TYPE IID	611383 OMIM:611383	WHRN	Unknown	17171570 22147658	CTD, HPO	—
USHER SYNDROME, TYPE III	C1568248	ARSG	Unknown	—	Disgenet	Lysosome Glycosphingolipid metabolism The activation of arylsulfatases
		CEP78	Unknown	—	Disgenet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +4 more
		CLRN1	Unknown	—	Disgenet	—
		HARS1	Unknown	—	Disgenet	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation
		USH2A	Unknown	—	Disgenet	—
USHER SYNDROME, TYPE IIIA	276902 C5779850 OMIM:276902	CLRN1	Unknown	11524702 12080385 12145752 14569126 28469144 9719374	CTD, Disgenet, HPO	—
USHER SYNDROME, TYPE IIIA	276902 C5779850 OMIM:276902	USH2A	Unknown	17296898 25352746	Disgenet	—
USHER SYNDROME, TYPE IIIB	614504 C3281066 OMIM:614504	HARS1	Unknown	22279524	CTD, Disgenet, HPO	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation
USHER SYNDROME, TYPE IIIB	614504 C3281066 OMIM:614504	HARS2	Unknown	—	Disgenet	Aminoacyl-tRNA biosynthesis Mitochondrial tRNA aminoacylation
USHER SYNDROME, TYPE IJ	614869 C3553944	CIB2	Unknown	18505454 23023331	Disgenet, HPO	—
USHER SYNDROME, TYPE IV	618144 C4748364	ARSG	Unknown	—	Disgenet, HPO	Lysosome Glycosphingolipid metabolism The activation of arylsulfatases
USHER SYNDROME, TYPE IV	618144 C4748364	PRKAR1A	Unknown	—	Disgenet	Insulin signaling pathway PKA activation PKA activation in glucagon signalling +7 more
USHER SYNDROMES	MESH:D052245	MYO7A	Unknown	15965244	CTD	Motor proteins The canonical retinoid cycle in rods (twilight vision)
USHER SYNDROMES	MESH:D052245	PCDH15	Unknown	19309154	CTD	—

Usher syndrome

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