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	—
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	—
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	—
USHER SYNDROME TYPE 3A	MONDO:0010170	CLRN1	Causal	9719374 11524702 14569126 12145752 12080385 28469144	ClinVar, Disgenet	—
USHER SYNDROME, TYPE 1M	618632 C5231434 MONDO:0032841	ESPN	Causal	29572253	ClinVar, Disgenet, GWAS catalog, HPO	—
USHER SYNDROME, TYPE 4	MONDO:0029141	ARSG	Causal	26975023 29300381 32455177	ClinVar, GWAS catalog	Lysosome Glycosphingolipid metabolism The activation of arylsulfatases
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

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