Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
USHER SYNDROME	C0271097	ADGRV1	Causal	—	Disgenet	—
		ARSG	Causal	—	Disgenet	Lysosome Glycosphingolipid metabolism The activation of arylsulfatases
		BBS1	Causal	—	Disgenet	BBSome-mediated cargo-targeting to cilium
		CDH23	Causal	—	Disgenet	—
		CEP250	Causal	—	Disgenet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +4 more
		CIB2	Causal	—	Disgenet	—
		CLRN1	Causal	—	Disgenet	—
		MYO7A	Causal	—	Disgenet	Motor proteins The canonical retinoid cycle in rods (twilight vision)
		PCDH15	Causal	—	Disgenet	—
		PDZD7	Causal	—	Disgenet	—
		PROM1	Causal	—	Disgenet	Transcriptional misregulation in cancer
		SLC9B1	Causal	—	Disgenet	Stimuli-sensing channels
		USH1C	Causal	—	Disgenet	—
		USH1G	Causal	—	Disgenet	—
		USH2A	Causal	—	Disgenet	—
		WHRN	Causal	—	Disgenet	—
		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 1	231169 MONDO:0010168	CDH23	Causal	20301442	ClinGen, GenCC, Orphanet	—
		CIB2	Causal	20301442 23023331	ClinGen, Disgenet, Orphanet	—
		ESPN	Causal	29572253	ClinVar, Orphanet	—
		MYO7A	Causal	10958658 18181211 20301442 23559863 25211151 27013738 28400833 28660889 7870172 8622919	CTD, ClinGen, ClinVar, Orphanet	Motor proteins The canonical retinoid cycle in rods (twilight vision)
		PCDH15	Causal	20301442	ClinGen, GenCC, Orphanet	—
		USH1C	Causal	20301442 32412666 34684815 34733232	ClinGen, ClinVar, GenCC, Orphanet	—
		USH1G	Causal	20301442 32367058 36943151	ClinGen, GenCC, Orphanet	—
USHER SYNDROME TYPE 1B	MONDO:0700087	MYO7A	Causal	—	GenCC	Motor proteins The canonical retinoid cycle in rods (twilight vision)
USHER SYNDROME TYPE 1C	MONDO:0010171	USH1C	Causal	—	ClinVar, GenCC	—
USHER SYNDROME TYPE 1D	MONDO:0010984	CDH23	Causal	15537665 11090341 21228398 11138009 25963016	ClinVar, GWAS catalog	—
USHER SYNDROME TYPE 1D	MONDO:0010984	PCDH15	Causal	—	ClinVar	—
USHER SYNDROME TYPE 1F	MONDO:0011186	PCDH15	Causal	—	ClinVar, GenCC	—
USHER SYNDROME TYPE 1G	MONDO:0011748	USH1G	Causal	—	ClinVar, GenCC	—
USHER SYNDROME TYPE 1J	MONDO:0013935	CIB2	Causal	23023331 18505454	ClinVar, HPO	—
USHER SYNDROME TYPE 2	231178 C0339534 MONDO:0016484	ADGRV1	Causal	14740321 16775142 17295842 20301515 23035094 25406310 25572244 25743181 26432996	ClinGen, Disgenet, GWAS catalog, Orphanet	—
		CDH23	Causal	—	Disgenet	—
		MYO7A	Causal	24831256	CTD, Disgenet, Orphanet	Motor proteins The canonical retinoid cycle in rods (twilight vision)
		USH1C	Causal	—	Disgenet	—
		USH2A	Causal	20301515 28696843	ClinGen, Disgenet, GenCC, Orphanet	—
		PDZD7	Unknown	20440071	Disgenet, Orphanet	—
		WHRN	Unknown	20301515	Disgenet, Orphanet	—
USHER SYNDROME TYPE 2A	MONDO:0010169	PDZD7	Causal	—	ClinVar	—
USHER SYNDROME TYPE 2A	MONDO:0010169	USH2A	Causal	25352746 17296898	ClinVar, Disgenet	—
USHER SYNDROME TYPE 2C	MONDO:0011558	ADGRV1	Causal	14740321 16775142 19357116 19357117 22135276 22147658 23441107 280396	ClinVar, GWAS catalog	—
USHER SYNDROME TYPE 2C	MONDO:0011558	PDZD7	Causal	20440071	ClinVar, GenCC	—
USHER SYNDROME TYPE 2D	MONDO:0012662	WHRN	Causal	17171570 22147658 28066926	ClinGen, ClinVar, Disgenet	—
USHER SYNDROME TYPE 3	231183 MONDO:0016485	CLRN1	Causal	19753315	ClinGen, GenCC, Orphanet	—
		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 3A	MONDO:0010170	CLRN1	Causal	9719374 11524702 14569126 12145752 12080385 28469144	ClinVar, Disgenet	—
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 1M	618632 C5231434 MONDO:0032841	ESPN	Causal	29572253	ClinVar, Disgenet, GWAS catalog, HPO	—
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 4	MONDO:0029141	ARSG	Causal	26975023 29300381 32455177	ClinVar, GWAS catalog	Lysosome Glycosphingolipid metabolism The activation of arylsulfatases
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 IIC, GPR98/PDZD7 DIGENIC	C3148929	ADGRV1	Causal	14740321 19357116 19357117	Disgenet	—
USHER SYNDROME, TYPE IIC, GPR98/PDZD7 DIGENIC	C3148929	PDZD7	Causal	—	Disgenet	—
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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