MYO7A (myosin VIIA)

Gene

• Entrez ID: 4647
• Gene name: Myosin VIIA
• Gene symbol: MYO7A
• Synonyms (NCBI Gene): DFNA11, DFNB2, MYOVIIA, MYU7A, NSRD2, USH1B
• Chromosome: 11
• Chromosome location: 11q13.5
• Summary: This gene is a member of the myosin gene family. Myosins are mechanochemical proteins characterized by the presence of a motor domain, an actin-binding domain, a neck domain that interacts with other proteins, and a tail domain that serves as an anchor. T

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1052030	T>A,C	Benign, likely-pathogenic, pathogenic, likely-benign	Genic upstream transcript variant, missense variant, stop gained, coding sequence variant, non coding transcript variant
rs28934610	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs35689081	C>A,T	Benign, pathogenic, likely-benign	Genic upstream transcript variant, stop gained, synonymous variant, non coding transcript variant, coding sequence variant
rs41298133	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs41298135	G>A,T	Pathogenic, benign-likely-benign, likely-benign	Coding sequence variant, intron variant, missense variant, non coding transcript variant
rs111033174	C>T	Pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs111033175	A>G	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs111033178	G>A	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs111033180	C>A,T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, synonymous variant
rs111033181	T>A,C	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs111033182	C>T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, stop gained
rs111033187	C>-,CC	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs111033192	G>A,T	Uncertain-significance, pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant, stop gained
rs111033198	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, stop gained
rs111033201	C>A,G,T	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, synonymous variant, stop gained
rs111033202	C>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs111033206	G>A	Pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs111033214	G>A	Pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs111033215	G>A	Pathogenic, likely-pathogenic	Downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs111033227	G>A	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs111033232	CTT>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, inframe deletion
rs111033233	G>A,T	Uncertain-significance, pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, synonymous variant
rs111033238	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs111033239	C>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs111033250	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant, intron variant
rs111033252	G>A	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs111033259	AGATCATG>CA	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, inframe indel
rs111033276	->C	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs111033283	G>A	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs111033284	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs111033285	T>G	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, intron variant
rs111033286	C>T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs111033287	C>A,G,T	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant, synonymous variant
rs111033290	G>A,T	Pathogenic, likely-pathogenic	Splice donor variant
rs111033337	A>C	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs111033347	A>-	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs111033376	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant, stop gained
rs111033389	G>A	Likely-pathogenic	Splice donor variant
rs111033390	->CA	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs111033403	C>A,G,T	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs111033404	G>A,C	Pathogenic, likely-pathogenic	Splice donor variant
rs111033415	A>G	Pathogenic	Splice acceptor variant
rs111033426	G>A	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs111033433	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, intron variant
rs111033437	G>A,T	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs111033448	G>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs111033477	C>A,T	Pathogenic, benign, likely-benign, benign-likely-benign	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, synonymous variant, stop gained
rs111033482	A>C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs111033486	A>G	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs111033510	->AG	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs111033511	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant, intron variant
rs116892396	C>A,T	Benign, benign-likely-benign, likely-benign, likely-pathogenic	Synonymous variant, non coding transcript variant, coding sequence variant, stop gained
rs121965079	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, stop gained, synonymous variant, non coding transcript variant
rs121965080	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121965081	G>A,C	Uncertain-significance, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121965082	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121965083	C>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs121965084	A>G,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121965085	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs139889944	G>A	Likely-benign, benign, pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs142293185	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs187165412	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs192378817	C>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, missense variant
rs199606180	C>T	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs199897298	G>T	Likely-pathogenic, pathogenic-likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs200848641	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs201251963	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs201539845	G>A	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs201892914	C>T	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs367668576	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, intron variant, synonymous variant
rs367687624	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs368341987	G>A	Benign, uncertain-significance, not-provided, pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs368657015	T>C	Pathogenic, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs368877140	G>T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs369125667	C>A,T	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs369458838	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs369969967	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs370740228	C>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs371029653	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs372493678	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs372509310	G>A,C	Likely-pathogenic	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs373147966	G>A,T	Likely-benign, uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs373169422	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs376535635	C>T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs376688581	C>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs376764423	C>T	Pathogenic, likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs377267777	G>A	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs377388669	G>A,C,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs377670513	C>G,T	Uncertain-significance, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs387906699	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs387906700	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs397516281	T>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs397516283	G>A	Pathogenic, likely-pathogenic	Splice donor variant
rs397516284	G>A	Uncertain-significance, likely-pathogenic	Genic upstream transcript variant, intron variant
rs397516285	G>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs397516290	->CAGCCA	Likely-pathogenic	Inframe insertion, coding sequence variant, non coding transcript variant
rs397516291	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs397516294	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs397516295	G>A,T	Pathogenic	Splice acceptor variant
rs397516301	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs397516303	AAGGACCTTTG>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs397516304	->C	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs397516305	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs397516308	G>A	Pathogenic	Stop gained, genic downstream transcript variant, non coding transcript variant, coding sequence variant, downstream transcript variant
rs397516310	T>C	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs397516312	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs397516315	T>A,G	Pathogenic, likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs397516316	A>G	Likely-pathogenic	Genic downstream transcript variant, intron variant
rs397516317	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs397516320	->C	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs397516321	C>T	Pathogenic, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs397516322	G>A,T	Uncertain-significance, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs397516323	T>C	Uncertain-significance, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs397516324	T>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs397516326	G>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs397516327	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs397516330	A>G	Pathogenic, likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs397516331	C>A,T	Pathogenic	Stop gained, genic downstream transcript variant, non coding transcript variant, coding sequence variant, synonymous variant
rs397516332	G>A,T	Uncertain-significance, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs527236085	G>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs530520654	C>G,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, stop gained
rs548172627	G>A	Likely-pathogenic	Splice acceptor variant
rs564622720	T>A	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs570316231	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic downstream transcript variant, synonymous variant, non coding transcript variant
rs606231379	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, splice acceptor variant
rs727503329	G>A	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs727504023	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs727504541	A>C	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs730880367	G>-,GG	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant, stop gained, downstream transcript variant
rs746667217	C>G,T	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, genic downstream transcript variant, missense variant
rs747656448	G>A	Pathogenic-likely-pathogenic, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs748080151	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, intron variant, synonymous variant, genic downstream transcript variant, missense variant
rs750358148	C>A,G,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs750647872	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs751242455	G>A,C	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs751769391	G>A,C	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs754104546	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs755934966	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs757460257	A>G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs760251968	TC>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs760292207	C>A,T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, synonymous variant, non coding transcript variant, downstream transcript variant
rs761469964	G>A	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs766641715	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs767615975	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs768513428	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs768594224	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, genic downstream transcript variant
rs773844428	C>T	Likely-pathogenic, pathogenic	Intron variant, non coding transcript variant, stop gained, coding sequence variant, genic downstream transcript variant
rs773945008	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs775792432	G>A	Likely-pathogenic	Intron variant, splice acceptor variant, genic downstream transcript variant
rs776930594	G>A	Pathogenic	Stop gained, downstream transcript variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs781790246	C>A,T	Pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs781811444	C>A,T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs781951909	C>T	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs781988557	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs781989117	G>A,T	Pathogenic	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs782063761	T>C	Pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs782064437	A>C,G	Pathogenic, likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs782077721	->C	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs782131913	G>A,T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, stop gained
rs782163200	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs782166819	C>G,T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs782252317	G>A,T	Pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs782255281	C>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs782276748	G>A,C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs782292032	T>C,G	Pathogenic, likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs782350886	G>A	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs782384464	G>A,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs782396605	G>A	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs782397746	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs782432573	C>A,G	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs782468194	G>A,C,T	Likely-pathogenic	Missense variant, stop gained, non coding transcript variant, coding sequence variant, intron variant
rs782539587	A>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs782598897	C>A,T	Likely-pathogenic	Stop gained, missense variant, non coding transcript variant, coding sequence variant
rs782661097	G>A,C,T	Pathogenic, likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs782694195	C>A,T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, synonymous variant
rs782787126	G>A	Likely-pathogenic	Missense variant, genic upstream transcript variant, initiator codon variant, 5 prime UTR variant
rs782808261	C>T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs797044489	A>T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs797044490	ATCC>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, intron variant
rs797044491	T>A	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs797044510	G>A	Pathogenic	Splice donor variant
rs797044511	A>G,T	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs797044512	C>T	Pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs797044513	TGCCCGGG>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, inframe indel
rs797044516	G>A,C	Pathogenic, uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs797044518	A>G	Likely-pathogenic	Missense variant, genic upstream transcript variant, initiator codon variant, 5 prime UTR variant
rs797044658	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs868979094	C>T	Pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs869312181	T>G	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs876657415	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs876657416	T>C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs876657417	T>A,C	Likely-pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs876657654	T>G	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs876657655	A>G	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs876657712	G>-	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs876657713	ATTGCAGACAA>-	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs878853235	A>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs878853236	C>T	Pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs878853237	T>C	Pathogenic, uncertain-significance	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs878853376	A>T	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs878853378	C>A	Pathogenic, likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs878864531	C>T	Pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs886037762	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs914189193	G>A	Likely-pathogenic	Splice donor variant
rs1057517774	C>G	Pathogenic, likely-pathogenic	Intron variant
rs1057517857	C>T	Pathogenic, likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1057518040	T>A	Likely-pathogenic	Downstream transcript variant, genic downstream transcript variant, splice donor variant
rs1057519225	->AC	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1060499651	GT>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1060499716	G>A	Likely-pathogenic	Intron variant
rs1060499800	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1060499801	C>T	Pathogenic, likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, coding sequence variant
rs1060499802	C>T	Pathogenic	Downstream transcript variant, genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs1060499803	A>G	Pathogenic	Splice acceptor variant, downstream transcript variant, genic downstream transcript variant
rs1064793208	->TCTACTCGCCA	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1064794012	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1064796130	CTCA>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1131691833	T>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1171417339	G>A	Likely-pathogenic	Splice acceptor variant
rs1188637368	C>-	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1192104600	T>C	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1199012623	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs1224819887	->A	Likely-pathogenic	Genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1226046110	G>C	Likely-pathogenic	Splice donor variant
rs1253943370	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1268984037	G>A	Likely-pathogenic	Intron variant, splice acceptor variant, genic downstream transcript variant
rs1279918132	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1296612982	T>G	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1299898646	C>-	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs1324244950	->A	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1338605788	G>A	Likely-pathogenic	Splice donor variant, genic downstream transcript variant, downstream transcript variant
rs1343207038	G>C	Likely-pathogenic	Splice donor variant
rs1383147250	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs1386887007	G>A,C	Pathogenic	Genic downstream transcript variant, intron variant
rs1397834886	CTTT>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs1398609491	C>-	Pathogenic	Non coding transcript variant, frameshift variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant
rs1403288739	G>A	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1446588093	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs1453053718	G>A	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, synonymous variant, coding sequence variant
rs1472566324	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1472611150	C>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1479835169	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant
rs1480697910	CAGG>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1485456037	G>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1555051384	A>G	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1555051390	->G	Likely-pathogenic	Splice acceptor variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1555051455	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic upstream transcript variant
rs1555051567	GGATGATGAAGACAATGTGAGT>-	Likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, splice donor variant, genic upstream transcript variant
rs1555061466	G>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1555062984	GACATC>-	Pathogenic	Coding sequence variant, non coding transcript variant, inframe deletion
rs1555067598	C>G,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, stop gained
rs1555067667	C>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1555069238	A>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1555069242	GCTCTGCA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1555072299	A>G	Likely-pathogenic	Splice acceptor variant
rs1555076948	G>A,T	Likely-pathogenic	Splice acceptor variant
rs1555078942	A>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1555080760	AG>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1555082041	AGGTCTAACTTTC>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, splice acceptor variant, intron variant
rs1555082145	C>A,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant, stop gained
rs1555085978	A>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, stop gained
rs1555090168	A>G	Likely-pathogenic	Splice acceptor variant
rs1555090171	G>C	Pathogenic	Splice acceptor variant
rs1555090294	C>A,T	Uncertain-significance, likely-benign, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, synonymous variant
rs1555090368	CT>-	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1555090885	G>C	Likely-pathogenic	Splice acceptor variant
rs1555091636	TGCTGACG>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1555092993	G>CC	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1555093028	T>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1555095933	->A	Likely-pathogenic	Coding sequence variant, downstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1555096070	C>-	Likely-pathogenic	Coding sequence variant, downstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1555096223	C>-	Pathogenic	Coding sequence variant, downstream transcript variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1555099541	TG>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1555100200	C>-	Likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1555100273	C>-	Likely-pathogenic	Stop gained, coding sequence variant, intron variant, non coding transcript variant, genic downstream transcript variant
rs1555100315	CT>-	Likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1555100603	->G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1555100625	C>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1555101858	G>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1555102041	C>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1555102147	G>T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1555102843	GAG>-	Pathogenic	Coding sequence variant, non coding transcript variant, inframe deletion, genic downstream transcript variant
rs1555103458	G>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1555103532	G>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1555105118	G>C	Likely-pathogenic	Splice acceptor variant, intron variant, genic downstream transcript variant
rs1555105135	->G	Likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1555105202	A>-	Likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1555106609	A>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1555107286	A>G	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1555107555	->TCAC	Likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1555109612	A>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1565402473	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1565430886	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1565455391	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs1565469959	A>G	Pathogenic	Intron variant, genic downstream transcript variant
rs1591224147	G>-	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, splice acceptor variant, non coding transcript variant
rs1591277785	->CAGCC	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant, non coding transcript variant
rs1591286221	AC>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1591286671	->CGGGGAGACGGTG	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1591287317	->AA	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1591310948	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1591369118	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1591378140	A>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1591467894	AG>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs1591467918	GT>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs1591470904	->C	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs1591479405	->AG	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs1591496649	->ATTA	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained, non coding transcript variant
rs1591514873	G>A	Pathogenic	Splice acceptor variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018231	hsa-miR-335-5p	Microarray	18185580
MIRT1170145	hsa-miR-216a	CLIP-seq
MIRT1170146	hsa-miR-216b	CLIP-seq
MIRT1170147	hsa-miR-4650-5p	CLIP-seq
MIRT1170148	hsa-miR-1224-3p	CLIP-seq
MIRT1170149	hsa-miR-1260	CLIP-seq
MIRT1170150	hsa-miR-1260b	CLIP-seq
MIRT1170151	hsa-miR-1280	CLIP-seq
MIRT1170152	hsa-miR-3120-5p	CLIP-seq
MIRT1170153	hsa-miR-4287	CLIP-seq
MIRT1170154	hsa-miR-4469	CLIP-seq
MIRT1170155	hsa-miR-4527	CLIP-seq
MIRT1170156	hsa-miR-4685-3p	CLIP-seq
MIRT1170145	hsa-miR-216a	CLIP-seq
MIRT1170146	hsa-miR-216b	CLIP-seq
MIRT1170147	hsa-miR-4650-5p	CLIP-seq
MIRT1170145	hsa-miR-216a	CLIP-seq
MIRT1170146	hsa-miR-216b	CLIP-seq
MIRT1170147	hsa-miR-4650-5p	CLIP-seq
MIRT1170145	hsa-miR-216a	CLIP-seq
MIRT1170146	hsa-miR-216b	CLIP-seq
MIRT1170147	hsa-miR-4650-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000146	Function	Microfilament motor activity	IBA
GO:0000146	Function	Microfilament motor activity	IDA	21687988
GO:0000146	Function	Microfilament motor activity	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0001750	Component	Photoreceptor outer segment	IDA	8842737
GO:0001845	Process	Phagolysosome assembly	IEA
GO:0001917	Component	Photoreceptor inner segment	IDA	8842737
GO:0003774	Function	Cytoskeletal motor activity	IEA
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	11964381, 23023331
GO:0005516	Function	Calmodulin binding	IEA
GO:0005516	Function	Calmodulin binding	IMP	15300860
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	23704327
GO:0005737	Component	Cytoplasm	IEA
GO:0005765	Component	Lysosomal membrane	IDA	16001398
GO:0005829	Component	Cytosol	IDA	15300860
GO:0005856	Component	Cytoskeleton	IEA
GO:0005902	Component	Microvillus	IBA
GO:0005938	Component	Cell cortex	IEA
GO:0006886	Process	Intracellular protein transport	IEA
GO:0006897	Process	Endocytosis	IBA
GO:0006909	Process	Phagocytosis	IEA
GO:0007015	Process	Actin filament organization	IBA
GO:0007040	Process	Lysosome organization	IDA	16001398
GO:0007040	Process	Lysosome organization	IEA
GO:0007423	Process	Sensory organ development	IBA
GO:0007600	Process	Sensory perception	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	IMP	7870171
GO:0007605	Process	Sensory perception of sound	IBA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	IMP	7870171
GO:0007605	Process	Sensory perception of sound	IMP	7870171, 11398101
GO:0008104	Process	Intracellular protein localization	IEA
GO:0008104	Process	Intracellular protein localization	ISS
GO:0015629	Component	Actin cytoskeleton	IBA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016459	Component	Myosin complex	IEA
GO:0019904	Function	Protein domain specific binding	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0030048	Process	Actin filament-based movement	IBA
GO:0030048	Process	Actin filament-based movement	IDA	21687988
GO:0030048	Process	Actin filament-based movement	IEA
GO:0030507	Function	Spectrin binding	IDA	23704327
GO:0031477	Component	Myosin VII complex	IEA
GO:0032391	Component	Photoreceptor connecting cilium	IEA
GO:0032420	Component	Stereocilium	IEA
GO:0032420	Component	Stereocilium	ISS
GO:0042462	Process	Eye photoreceptor cell development	IC	8842737
GO:0042470	Component	Melanosome	IEA
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0042490	Process	Mechanoreceptor differentiation	IEA
GO:0042490	Process	Mechanoreceptor differentiation	ISS
GO:0042491	Process	Inner ear auditory receptor cell differentiation	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0043531	Function	ADP binding	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045202	Component	Synapse	IDA	8842737
GO:0045202	Component	Synapse	IEA
GO:0048666	Process	Neuron development	IEA
GO:0048839	Process	Inner ear development	IEA
GO:0050953	Process	Sensory perception of light stimulus	IEA
GO:0050953	Process	Sensory perception of light stimulus	IMP	11398101
GO:0050957	Process	Equilibrioception	IMP	7870171
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IDA	21687988
GO:0051875	Process	Pigment granule localization	IEA
GO:0051904	Process	Pigment granule transport	IEA
GO:0060088	Process	Auditory receptor cell stereocilium organization	IEA
GO:0060113	Process	Inner ear receptor cell differentiation	IEA
GO:0060122	Process	Inner ear receptor cell stereocilium organization	IEA
GO:0090102	Process	Cochlea development	IEA
GO:0090596	Process	Sensory organ morphogenesis	IEA
GO:0097733	Component	Photoreceptor cell cilium	IEA
GO:0120044	Component	Stereocilium base	IEA
GO:0120044	Component	Stereocilium base	ISS
GO:1990435	Component	Upper tip-link density	IEA

Other IDs

• MIM: 276903
• HGNC: 7606
• e!Ensembl: ENSG00000137474

Protein

• UniProt ID: Q13402
• Protein name: Unconventional myosin-VIIa
• Protein function: Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails bind to membranous compartments, which are then moved relative to actin filaments. In the retina,
• PDB: 5MV9
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00063	Myosin_head	67 → 729	Myosin head (motor domain)	Domain
  PF00612	IQ	768 → 788	IQ calmodulin-binding motif	Motif
  PF00612	IQ	814 → 834	IQ calmodulin-binding motif	Motif
  PF00784	MyTH4	1151 → 1252	MyTH4 domain	Family
  PF00784	MyTH4	1793 → 1895	MyTH4 domain	Family
  PF00373	FERM_M	2006 → 2115	FERM central domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the pigment epithelium and the photoreceptor cells of the retina. Also found in kidney, liver, testis, cochlea, lymphocytes. Not expressed in brain. {ECO:0000269|PubMed:19643958, ECO:0000269|PubMed:21493626, ECO:0000269|Pu
• Sequence:

  MVILQQGDHVWMDLRLGQEFDVPIGAVVKLCDSGQVQVVDDEDNEHWISPQNATHIKPMH
  PTSVHGVEDMIRLGDLNEAGILRNLLIRYRDHLIYTYTGSILVAVNPYQLLSIYSPEHIR
  QYTNKKIGEMPPHIFAIADNCYFNMKRNSRDQCCIISGESGAGKTESTKLILQFLAAISG
  QHSWIEQQVLEATPILEAFGNAKTIRNDNSSRFGKYIDIHFNKRGAIEGAKIEQYLLEKS
  RVCRQALDERNYHVFYCMLEGMSEDQKKKLGLGQASDYNYLAMGNCITCEGRVDSQEYAN
  IRSAMKVLMFTDTENWEISKLLAAILHLGNLQYEARTFENLDACEVLFSPSLATAASLLE
  VNPPDLMSCLTSRTLITRGETVSTPLSREQALDVRDAFVKGIYGRLFVWIVDKINAAIYK
  PPSQDVKNSRRSIGLLDIFGFENFAVNSFEQLCINFANEHLQQFFVRHVFKLEQEEYDLE
  SIDWLHIEFTDNQDALDMIANKPMNIISLIDEESKFPKGTDTTMLHKLNSQHKLNANYIP
  PKNNHETQFGINHFAGIVYYETQGFLEKNRDTLHGDIIQLVHSSRNKFIKQIFQADVAMG
  AETRKRSPTLSSQFKRSLELLMRTLGACQPFFVRCIKPNEFKKPMLFDRHLCVRQLRYSG
  MMETIRIRRAGYPIRYSFVEFVERYRVLLPGVKPAYKQGDLRGTCQRMAEAVLGTHDDWQ
  IGKTKIFLKDHHDMLLEVERDKAITDRVILLQKVIRGFKDRSNFLKLKNAATLIQRHWRG
  HNCRKNYGLMRLGFLRLQALHRSRKLHQQYRLARQRIIQFQARCRAYLVRKAFRHRLWAV
  LTVQAYARGMIARRLHQRLRAEYLWRLEAEKMRLAEEEKLRKEMSAKKAKEEAERKHQER
  LAQLAREDAERELKEKEAARRKKELLEQMERARHEPVNHSDMVDKMFGFLGTSGGLPGQE
  GQAPSGFEDLERGRREMVEEDLDAALPLPDEDEEDLSEYKFAKFAATYFQGTTTHSYTRR
  PLKQPLLYHDDEGDQLAALAVWITILRFMGDLPEPKYHTAMSDGSEKIPVMTKIYETLGK
  KTYKRELQALQGEGEAQLPEGQKKSSVRHKLVHLTLKKKSKLTEEVTKRLHDGESTVQGN
  SMLEDRPTSNLEKLHFIIGNGILRPALRDEIYCQISKQLTHNPSKSSYARGWILVSLCVG
  CFAPSEKFVKYLRNFIHGGPPGYAPYCEERLRRTFVNGTRTQPPSWLELQATKSKKPIML
  PVTFMDGTTKTLLTDSATTAKELCNALADKISLKDRFGFSLYIALFDKVSSLGSGSDHVM
  DAISQCEQYAKEQGAQERNAPWRLFFRKEVFTPWHSPSEDNVATNLIYQQVVRGVKFGEY
  RCEKEDDLAELASQQYFVDYGSEMILERLLNLVPTYIPDREITPLKTLEKWAQLAIAAHK
  KGIYAQRRTDAQKVKEDVVSYARFKWPLLFSRFYEAYKFSGPSLPKNDVIVAVNWTGVYF
  VDEQEQVLLELSFPEIMAVSSSRECRVWLSLGCSDLGCAAPHSGWAGLTPAGPCSPCWSC
  RGAKTTAPSFTLATIKGDEYTFTSSNAEDIRDLVVTFLEGLRKRSKYVVALQDNPNPAGE
  ESGFLSFAKGDLIILDHDTGEQVMNSGWANGINERTKQRGDFPTDSVYVMPTVTMPPREI
  VALVTMTPDQRQDVVRLLQLRTAEPEVRAKPYTLEEFSYDYFRPPPKHTLSRVMVSKARG
  KDRLWSHTREPLKQALLKKLLGSEELSQEACLAFIAVLKYMGDYPSKRTRSVNELTDQIF
  EGPLKAEPLKDEAYVQILKQLTDNHIRYSEERGWELLWLCTGLFPPSNILLPHVQRFLQS
  RKHCPLAIDCLQRLQKALRNGSRKYPPHLVEVEAIQHKTTQIFHKVYFPDDTDEAFEVES
  STKAKDFCQNIATRLLLKSSEGFSLFVKIADKVLSVPENDFFFDFVRHLTDWIKKARPIK
  DGIVPSLTYQVFFMKKLWTTTVPGKDPMADSIFHYYQELPKYLRGYHKCTREEVLQLGAL
  IYRVKFEEDKSYFPSIPKLLRELVPQDLIRQVSPDDWKRSIVAYFNKHAGKSKEEAKLAF
  LKLIFKWPTFGSAFFEVKQTTEPNFPEILLIAINKYGVSLIDPKTKDILTTHPFTKISNW
  SSGNTYFHITIGNLVRGSKLLCETSLGYKMDDLLTSYISQMLTAMSKQRGSRSGK

• Sequence length: 2215

Pathways

KEGG:

Motor proteins

Reactome:

The canonical retinoid cycle in rods (twilight vision)

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Auditory neuropathy	Likely pathogenic; Pathogenic	rs2496745583, rs2497078982	RCV003484466 RCV003484480	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant nonsyndromic hearing loss 11	Pathogenic; Likely pathogenic	rs778009227, rs1957844295, rs548381313, rs1555082994, rs2135473615, rs2135562294, rs1334199217, rs2135785861, rs727503329, rs373169422, rs376764423, rs111033403, rs797044491, rs781988557, rs797044512, rs797044516, rs782166819, rs781977497, rs781815916, rs111033233, rs878853236, rs1266443165, rs121965080, rs2135478294, rs121965085, rs121965084, rs1555102843, rs2497664685, rs2497276257, rs1416744060, rs1952586315, rs201892914, rs376535635, rs1057517857, rs201539845, rs747656448, rs782661097, rs1064793208, rs1064794012, rs116892396, rs1383147250, rs1555069238, rs1555051455, rs782539587, rs782077721, rs397516283, rs111033206, rs111033180, rs111033201, rs111033290, rs397516295, rs111033437, rs199897298, rs111033214, rs397516303, rs111033178, rs397516304, rs111033347, rs111033181, rs111033259, rs111033174, rs111033182, rs111033276, rs368657015, rs397516321, rs397516322, rs111033215, rs397516323, rs111033192, rs397516326, rs111033198, rs111033486, rs111033283, rs397516330, rs111033285, rs782279338, rs1297886521, rs1385324903, rs782787126, rs782292032, rs1269622956, rs1555090171, rs1253943370, rs766641715, rs1555099541, rs878864531, rs548172627, rs1555067667, rs782694195, rs1555090442, rs1555096223, rs1555100273, rs782468194, rs1226046110, rs755934966, rs750647872, rs776930594, rs111033477, rs1591224147, rs782281371, rs1957512851, rs782639389, rs1954226902, rs1955175992, rs1223784415, rs1956759935, rs1952434877, rs371374104, rs368575149	RCV005005916 RCV005005243 RCV005005996 RCV005006044 RCV001808253 RCV005002637 RCV005002713 RCV005002718 RCV005003494 RCV005008060 RCV005008062 RCV001115096 RCV005008058 RCV002478450 RCV000225087 RCV005003503 RCV005002926 RCV005002927 RCV005008715 RCV005008152 RCV000763276 RCV005012820 RCV005007838 RCV000012632 RCV002490356 RCV000012638 RCV004795396 RCV005003690 RCV005013111 RCV005013170 RCV005003741 RCV005010300 RCV005010299 RCV000763280 RCV000022815 RCV005004160 RCV005010387 RCV005004180 RCV005010388 RCV005004196 RCV005004198 RCV005004197 RCV005010448 RCV001198157 RCV003447544 RCV005004273 RCV005007939 RCV001262910 RCV000763275 RCV000763277 RCV002477079 RCV001329739 RCV000765015 RCV005007942 RCV002496550 RCV000763278 RCV004795953 RCV000763279 RCV005003424 RCV002496551 RCV002482971 RCV005007943 RCV005003425 RCV005003426 RCV005003427 RCV005007944 RCV000763283 RCV005003428 RCV002504884 RCV005007945 RCV005007946 RCV005007948 RCV002477080 RCV002496554 RCV002496555 RCV000515404 RCV005007949 RCV005003429 RCV002485553 RCV005010660 RCV001334338 RCV005004336 RCV002485549 RCV005004339 RCV005004341 RCV005004326 RCV000763282 RCV005004323 RCV002507176 RCV004796273 RCV002477494 RCV002499178 RCV002485557 RCV005004347 RCV005010664 RCV005004352 RCV005010670 RCV000763284 RCV000763281 RCV005004404 RCV002501115 RCV000985195 RCV002497440 RCV005005031 RCV005012534 RCV005012589 RCV001195690 RCV001198584 RCV005225319 RCV002480760 RCV005012665 RCV005432628	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal recessive nonsyndromic hearing loss 2	Likely pathogenic; Pathogenic	rs1955999847, rs778009227, rs1957844295, rs2135563245, rs2135312491, rs2135577456, rs1401619267, rs1952854443, rs2135802675, rs2135345560, rs548381313, rs1555082994, rs2135473615, rs2135620605, rs2135562294, rs1334199217, rs2135785861, rs2135406725, rs2135495180, rs727503329, rs373169422, rs376764423, rs111033403, rs797044491, rs797044510, rs782252317, rs781988557, rs797044511, rs797044516, rs2497345097, rs2497568507, rs782166819, rs781977497, rs773844428, rs781815916, rs876657655, rs111033233, rs782255281, rs878853235, rs878853236, rs2497705748, rs1266443165, rs121965079, rs41298133, rs28934610, rs121965080, rs121965081, rs2135550200, rs121965082, rs35689081, rs121965085, rs1555102843, rs111033376, rs2497664685, rs2497276257, rs1416744060, rs1952586315, rs782198012, rs2497682974, rs2497220619, rs2497683918, rs201892914, rs376535635, rs1057517774, rs1057517857, rs1060499651, rs201539845, rs387906700, rs1060499800, rs1060499803, rs1060499801, rs1060499802, rs747656448, rs782661097, rs1064793208, rs1064794012, rs116892396, rs782063761, rs1555090294, rs1199012623, rs1383147250, rs1555069238, rs530520654, rs782292032, rs1555051455, rs782539587, rs782077721, rs397516281, rs397516283, rs111033415, rs111033206, rs111033426, rs111033180, rs111033201, rs111033290, rs397516295, rs111033437, rs199897298, rs111033214, rs397516303, rs111033178, rs397516304, rs111033347, rs111033187, rs111033181, rs111033259, rs397516315, rs111033174, rs111033448, rs111033182, rs111033276, rs397516317, rs368657015, rs397516321, rs397516322, rs111033215, rs199606180, rs397516323, rs111033192, rs111033232, rs397516326, rs111033198, rs111033486, rs111033283, rs397516330, rs397516332, rs111033285, rs1555051384, rs1052030, rs1555051567, rs782064437, rs782279338, rs1297886521, rs781951909, rs1555072299, rs1555080760, rs1555082041, rs1555092993, rs1555096070, rs1555100603, rs1188637368, rs1555105118, rs1385324903, rs782787126, rs1224819887, rs1472566324, rs1269622956, rs1343207038, rs782131913, rs1555090171, rs1253943370, rs1555091636, rs766641715, rs1555095933, rs1555099541, rs775792432, rs1555103458, rs1555105202, rs878864531, rs1555107286, rs1555061466, rs1403288739, rs548172627, rs1555067667, rs914189193, rs1555076948, rs1279918132, rs782694195, rs1555090442, rs1555090885, rs1555093028, rs1480697910, rs1555096223, rs1555100200, rs1555100273, rs1555100315, rs1555102041, rs1192104600, rs1555103532, rs1299898646, rs1453053718, rs1397834886, rs1555107555, rs1555109612, rs773945008, rs564622720, rs1555082145, rs782468194, rs1555085978, rs1555090168, rs1226046110, rs1555100625, rs1555101858, rs1555102147, rs1555105135, rs1555106609, rs1268984037, rs755934966, rs750647872, rs1565402473, rs750358148, rs1386887007, rs776930594, rs1565455391, rs1338605788, rs111033477, rs1446588093, rs1591287317, rs1591310948, rs1591378140, rs1591514873, rs1952428470, rs782281371, rs1957512851, rs782639389, rs1954226902, rs1956759935, rs1952434877, rs371374104, rs1201586094, rs782347270, rs1955319492	RCV001334334 RCV005005916 RCV001823206 RCV001542593 RCV001822952 RCV001822967 RCV001822906 RCV001823235 RCV001823216 RCV002449398 RCV005005996 RCV005006044 RCV005006069 RCV001809335 RCV005002637 RCV005002713 RCV005002718 RCV004571655 RCV004785462 RCV001808416 RCV005008060 RCV000411148 RCV000665283 RCV004576924 RCV000666967 RCV000674570 RCV002478450 RCV000675112 RCV000675162 RCV002444393 RCV002444394 RCV005002926 RCV005002927 RCV000667070 RCV005008715 RCV000675133 RCV000984287 RCV000770844 RCV000225019 RCV000674391 RCV003155566 RCV005012820 RCV004786253 RCV000669392 RCV000665766 RCV005007838 RCV000012627 RCV000012629 RCV000012630 RCV000665804 RCV000669149 RCV000012639 RCV004798045 RCV005003690 RCV005013111 RCV005013170 RCV005003741 RCV004547293 RCV004555529 RCV004557245 RCV004576150 RCV000411572 RCV000410532 RCV000667896 RCV000670142 RCV000449499 RCV005007888 RCV000022817 RCV000454349 RCV000454153 RCV000454216 RCV000454181 RCV000454276 RCV000672808 RCV005004180 RCV005010388 RCV005004196 RCV000666535 RCV000670176 RCV000670174 RCV000671853 RCV005004197 RCV005010448 RCV000988614 RCV000988600 RCV000668877 RCV000770845 RCV005004273 RCV000666645 RCV000672265 RCV000665311 RCV000669343 RCV000666110 RCV000763275 RCV000409801 RCV002477079 RCV000666504 RCV000765015 RCV001580451 RCV000664879 RCV000664470 RCV004795953 RCV000763279 RCV005003424 RCV000412422 RCV002482971 RCV000409086 RCV000673536 RCV005003425 RCV000670662 RCV000666360 RCV001837445 RCV000673155 RCV005007944 RCV000669320 RCV000668342 RCV000668897 RCV000672711 RCV000983988 RCV000669133 RCV000675068 RCV005007948 RCV003326334 RCV002477080 RCV000665987 RCV000675104 RCV000515404 RCV000664694 RCV000675126 RCV000670120 RCV000674972 RCV000664572 RCV000672865 RCV000671042 RCV000667248 RCV000670895 RCV000669802 RCV000668486 RCV000672185 RCV000668658 RCV000666719 RCV000671534 RCV000667646 RCV000669030 RCV000668185 RCV000667676 RCV000669072 RCV000668632 RCV000012628 RCV000668615 RCV000669696 RCV000668444 RCV000670043 RCV000665847 RCV000669350 RCV000670122 RCV000665547 RCV000674688 RCV000666120 RCV000673649 RCV000665251 RCV000674728 RCV000673005 RCV000671898 RCV000673133 RCV000671897 RCV000670271 RCV000674779 RCV000673992 RCV002477494 RCV000664858 RCV000674069 RCV000664644 RCV000671459 RCV000672010 RCV000671701 RCV000666761 RCV000674024 RCV000671977 RCV000670356 RCV000670858 RCV000674582 RCV000670888 RCV000674217 RCV000672007 RCV000672591 RCV000672578 RCV000669035 RCV000673007 RCV000666730 RCV000667049 RCV000674636 RCV000670160 RCV000673801 RCV000673719 RCV000673745 RCV000674211 RCV000671875 RCV000665743 RCV000673825 RCV000668610 RCV000674703 RCV000673408 RCV000666616 RCV000763281 RCV000681547 RCV000681546 RCV000681551 RCV005004404 RCV000770846 RCV000770847 RCV000770848 RCV002501115 RCV000988598 RCV000988602 RCV000988603 RCV000988607 RCV000988618 RCV001809892 RCV004789368 RCV002497440 RCV005005031 RCV005012534 RCV005012589 RCV005225319 RCV002480760 RCV005012665 RCV001542594 RCV004570654 RCV006249738	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bilateral sensorineural hearing impairment	Likely pathogenic; Pathogenic	rs797044512	RCV001254945	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deafness	Likely pathogenic; Pathogenic	rs781790246, rs1565430886, rs1565469959, rs746667217	RCV000679823 RCV000679826 RCV000679822 RCV000679821	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ear malformation	Likely pathogenic; Pathogenic	rs2135627450, rs2135733393, rs755934966, rs111033415, rs111033477, rs1591310948, rs371374104	RCV001814548 RCV001814468 RCV001814338 RCV001814023 RCV001814241 RCV001814245 RCV001814288	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hearing impairment	Likely pathogenic; Pathogenic	rs973746837, rs1485456037	RCV001375266 RCV001375470	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing loss	Likely pathogenic; Pathogenic	rs1064794012, rs199897298	RCV001270108 RCV001270103	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing loss, autosomal recessive	Pathogenic; Likely pathogenic	rs2135798786, rs797044491, rs35689081, rs782063761, rs1199012623, rs782539587, rs111033214, rs111033187, rs111033448, rs199606180, rs111033284, rs782279338, rs781951909, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565402473, rs750358148, rs1386887007, rs377267777, rs1955319492	RCV004809674 RCV001291467 RCV001291462 RCV001291471 RCV001291099 RCV001291469 RCV001291476 RCV001291464 RCV001291465 RCV001291104 RCV001291466 RCV001291468 RCV001291470 RCV001291463 RCV001291477 RCV001291100 RCV001291103 RCV001291472 RCV001291097 RCV001291105 RCV001291102 RCV001291473	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary breast ovarian cancer syndrome	Likely pathogenic; Pathogenic	rs199897298	RCV004541086	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Pathogenic	rs1591514873	RCV005912166	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Meniere disease	Likely pathogenic; Pathogenic	rs782063761, rs782787126, rs918353878	RCV006254081 RCV001526681 RCV001526686	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Monogenic hearing loss	Pathogenic; Likely pathogenic	rs782539587, rs111033192	RCV006261980 RCV005646847	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MYO7A-related disorder	Pathogenic; Likely pathogenic	rs370395532, rs1334199217, rs376764423, rs797044512, rs797044516, rs2497798555, rs373942326, rs2497407763, rs2497176999, rs111033201, rs111033437, rs199897298, rs111033214, rs111033178, rs111033187, rs111033181, rs111033174, rs368657015, rs111033215, rs111033192, rs397516330, rs782064437, rs1224819887, rs1555100273, rs1555105135, rs377267777, rs782636104, rs782312060	RCV004734162 RCV004538679 RCV004528890 RCV004528892 RCV004734740 RCV004534234 RCV004536700 RCV005433412 RCV004534498 RCV004528175 RCV004534755 RCV004579535 RCV004541087 RCV004528176 RCV004534756 RCV004528177 RCV004734546 RCV004528178 RCV004734547 RCV004528179 RCV004528180 RCV004527727 RCV004735735 RCV004735738 RCV004535681 RCV004527799 RCV004735960 RCV005232179	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nonsyndromic genetic hearing loss	Pathogenic; Likely pathogenic	rs1555063281, rs782063761, rs111033415, rs111033290, rs111033437, rs782279338, rs749747871	RCV001544527 RCV004595510 RCV001544528 RCV004786305 RCV001004783 RCV001261013 RCV003117740	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rare genetic deafness	Likely pathogenic; Pathogenic	rs727503329, rs373169422, rs727504541, rs730880367, rs376764423, rs377670513, rs797044489, rs797044490, rs797044491, rs797044510, rs782252317, rs369125667, rs781988557, rs797044511, rs797044512, rs797044513, rs797044518, rs876657712, rs876657713, rs876657655, rs111033233, rs876657654, rs782255281, rs1555090368, rs41298133, rs28934610, rs35689081, rs121965085, rs2497044521, rs201892914, rs201539845, rs782292032, rs1555051455, rs782539587, rs397516281, rs397516283, rs111033415, rs111033286, rs397516285, rs111033206, rs606231379, rs111033389, rs397516290, rs111033426, rs111033180, rs111033510, rs397516291, rs111033201, rs111033404, rs397516294, rs111033290, rs397516295, rs111033433, rs199897298, rs111033214, rs111033239, rs111033482, rs111033390, rs397516303, rs397516304, rs111033347, rs111033403, rs111033187, rs111033181, rs111033202, rs397516308, rs397516310, rs111033337, rs111033259, rs397516312, rs397516315, rs111033174, rs111033448, rs111033182, rs111033276, rs397516317, rs368657015, rs397516320, rs397516321, rs397516322, rs111033215, rs199606180, rs397516323, rs111033192, rs111033238, rs111033232, rs111033250, rs397516326, rs111033175, rs111033198, rs111033283, rs397516330, rs397516331, rs111033284, rs111033285, rs781790246	RCV000844721 RCV000154330 RCV000155694 RCV000156543 RCV000844723 RCV000151522 RCV000151475 RCV000151481 RCV000151482 RCV000154316 RCV000154329 RCV000154340 RCV000154343 RCV000155424 RCV000155771 RCV000155845 RCV000156361 RCV000216749 RCV000220428 RCV000223094 RCV000215887 RCV000219484 RCV000220369 RCV000222358 RCV000036246 RCV000036232 RCV000154341 RCV000151490 RCV004018314 RCV000844718 RCV000215956 RCV000613318 RCV000610416 RCV000601432 RCV000036037 RCV000036042 RCV000036047 RCV000036048 RCV000036050 RCV000844714 RCV000036056 RCV000036059 RCV000036063 RCV000036067 RCV000844715 RCV000036069 RCV000036071 RCV000844716 RCV000036075 RCV000036076 RCV000036078 RCV000036079 RCV000844717 RCV000036100 RCV000036106 RCV000036110 RCV000036112 RCV000036113 RCV000036114 RCV000036115 RCV000036121 RCV000036123 RCV000844720 RCV000036132 RCV000844713 RCV000036134 RCV000036136 RCV000036140 RCV000036143 RCV000036144 RCV000036150 RCV000036154 RCV000036166 RCV000036169 RCV000036171 RCV000036175 RCV000036180 RCV000036187 RCV000036193 RCV000036194 RCV000036196 RCV000036197 RCV000844722 RCV000036200 RCV000036203 RCV000036205 RCV000036206 RCV000036213 RCV000036215 RCV000844724 RCV000036219 RCV000844725 RCV000036233 RCV000036235 RCV000036236 RCV000036247 RCV000036253 RCV000825401	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinal disorder	Likely pathogenic; Pathogenic	rs397516321	RCV006272131	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Pathogenic; Likely pathogenic	rs778009227, rs2135345560, rs376764423, rs782252317, rs797044513, rs797044516, rs781977497, rs869312181, rs878853378, rs878853376, rs28934610, rs1956843263, rs2496578500, rs1057517857, rs747656448, rs1064794012, rs1199012623, rs761469964, rs782077721, rs397516281, rs111033180, rs397516295, rs111033233, rs199897298, rs111033214, rs111033178, rs111033403, rs111033181, rs397516308, rs111033174, rs111033182, rs111033276, rs397516317, rs368657015, rs111033215, rs397516323, rs111033192, rs397516326, rs111033198, rs111033486, rs111033283, rs397516330, rs111033284, rs111033285, rs1052030, rs1472566324, rs1555067667, rs377267777, rs111033477, rs111033187, rs778934538, rs1955083613, rs782639389, rs1953075862, rs1954927143, rs749747871, rs780609120, rs1956849074, rs1957972028, rs1223784415, rs1953519454, rs782347270	RCV004815517 RCV004815587 RCV000225571 RCV001073538 RCV004815247 RCV004815249 RCV004817192 RCV000225646 RCV000225435 RCV000225423 RCV001073914 RCV004818378 RCV004818465 RCV004794388 RCV004816669 RCV001073399 RCV004794398 RCV001074974 RCV001075145 RCV004814936 RCV004814938 RCV004814939 RCV004814941 RCV001073977 RCV001075104 RCV001075882 RCV004814943 RCV001074683 RCV001075167 RCV004814946 RCV001074879 RCV001073537 RCV001074754 RCV004814948 RCV004814949 RCV001074201 RCV004814950 RCV001075853 RCV004814951 RCV001073506 RCV004814952 RCV004814953 RCV004814954 RCV001075598 RCV004817863 RCV004794433 RCV001075552 RCV004817992 RCV001075462 RCV004818190 RCV001075422 RCV001075695 RCV001073269 RCV001073328 RCV001075461 RCV001075168 RCV001074577 RCV001074204 RCV001075106 RCV004813846 RCV004813929 RCV004814040	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Likely pathogenic; Pathogenic	rs1952576456, rs527236085, rs35689081, rs2496744582, rs111033232, rs1591277785	RCV001591802 RCV000132570 RCV000787856 RCV003459890 RCV005862745 RCV000787854	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sensorineural hearing loss disorder	Pathogenic	rs1407313220	RCV001353208	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs111033233	RCV005895017	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Usher syndrome	Likely pathogenic; Pathogenic	rs2135518421, rs2135312491, rs2135577456, rs866352637, rs377640847, rs1385324903, rs1353598791, rs727503329, rs373169422, rs377670513, rs111033403, rs797044491, rs797044492, rs782252317, rs797044511, rs797044516, rs797044518, rs869312181, rs1555090368, rs2497410309, rs376291076, rs2497079590, rs2497235949, rs1555090171, rs2497221075, rs2496487970, rs1266443165, rs121965079, rs28934610, rs121965081, rs1555102843, rs2497044244, rs957394613, rs387906700, rs747656448, rs750358148, rs1555051390, rs116892396, rs782166819, rs782063761, rs1555078942, rs1171417339, rs1555090294, rs1199012623, rs1383147250, rs111033206, rs111033201, rs111033178, rs397516304, rs111033347, rs111033187, rs111033181, rs397516315, rs368657015, rs397516321, rs397516322, rs111033215, rs397516323, rs111033486, rs111033283, rs397516332, rs111033284, rs1472566324, rs766641715, rs1555095933, rs111033285, rs749747871, rs1954226902, rs1955941699, rs371374104, rs1236207116, rs1201586094	RCV005912607 RCV003389493 RCV003389494 RCV005057508 RCV005433113 RCV003324573 RCV004782828 RCV004597752 RCV003479023 RCV001089684 RCV005252036 RCV001252672 RCV000151486 RCV003330513 RCV001089675 RCV001004779 RCV003398813 RCV001171542 RCV003389465 RCV003389516 RCV003389517 RCV003389521 RCV003389523 RCV003389525 RCV003389531 RCV003389535 RCV003389552 RCV000036148 RCV003389443 RCV003492291 RCV003230352 RCV003324703 RCV005240901 RCV003317043 RCV003235215 RCV000504890 RCV000505053 RCV000504875 RCV000505169 RCV000504967 RCV000504671 RCV000504686 RCV000505067 RCV000504720 RCV000504907 RCV003492341 RCV000504864 RCV000504703 RCV003155050 RCV000505077 RCV003324501 RCV001775073 RCV004799757 RCV005888990 RCV003323370 RCV001089676 RCV004782029 RCV001252670 RCV000036230 RCV003389445 RCV000036241 RCV003323371 RCV005407865 RCV003235337 RCV003389476 RCV003389480 RCV005056855 RCV003387963 RCV001195280 RCV006269327 RCV004690028 RCV004800736 RCV004800742	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Usher syndrome type 1	Likely pathogenic; Pathogenic	rs2135518421, rs2135712224, rs1953513223, rs778009227, rs1957844295, rs2135244325, rs770778096, rs2135312491, rs1401619267, rs548381313, rs1555082994, rs2135682219, rs2135473615, rs2135798786, rs2135785880, rs2135244869, rs2135562294, rs1334199217, rs2135785861, rs2135406725, rs916332384, rs1957902751, rs2135406368, rs727503329, rs373169422, rs730880367, rs376764423, rs111033403, rs797044491, rs797044492, rs2497186927, rs2496764008, rs2496489271, rs797044510, rs782252317, rs781988557, rs2496844332, rs558458890, rs2496762929, rs1955997471, rs2497178838, rs2497175190, rs797044511, rs2497545192, rs2497089118, rs2497203875, rs2497205388, rs797044516, rs2497831020, rs1957190327, rs797044518, rs781893704, rs2496578693, rs2497079129, rs2497127256, rs2496884365, rs1957972101, rs2497044284, rs1955013824, rs2496748386, rs2496886375, rs2497089724, rs2497201682, rs2496872707, rs1954477050, rs1187644045, rs2497161585, rs2497079486, rs1269622956, rs2497202889, rs1302543317, rs782166819, rs781977497, rs773844428, rs781815916, rs2496748155, rs886037762, rs869312181, rs876657415, rs876657655, rs111033233, rs782255281, rs878853236, rs878853378, rs782339376, rs1266443165, rs41298133, rs28934610, rs121965080, rs35689081, rs121965085, rs1555102843, rs1956843263, rs2497664685, rs2497276257, rs2497489299, rs1416744060, rs1952586315, rs2496843802, rs2496578500, rs201892914, rs376535635, rs1057517774, rs1057517857, rs1060499716, rs201539845, rs1060499800, rs1060499801, rs747656448, rs782661097, rs1064793208, rs1064794012, rs116892396, rs782063761, rs1555090294, rs1199012623, rs1383147250, rs1555069238, rs761469964, rs1555051455, rs782539587, rs782077721, rs397516281, rs397516283, rs111033415, rs111033206, rs111033426, rs111033180, rs111033201, rs111033290, rs397516295, rs111033437, rs199897298, rs111033214, rs397516303, rs111033178, rs397516304, rs111033347, rs111033187, rs111033181, rs111033259, rs397516315, rs111033174, rs111033448, rs111033182, rs111033276, rs397516317, rs368657015, rs397516321, rs397516322, rs111033215, rs199606180, rs397516323, rs111033192, rs111033232, rs397516326, rs111033175, rs111033198, rs111033486, rs111033283, rs397516330, rs397516332, rs111033285, rs1555051384, rs1052030, rs1555051567, rs782064437, rs782279338, rs1297886521, rs781951909, rs1555072299, rs1555080760, rs1555082041, rs1555092993, rs1555096070, rs1555100603, rs1188637368, rs1555105118, rs1385324903, rs782787126, rs1224819887, rs782292032, rs1472566324, rs1343207038, rs782131913, rs1555090171, rs1253943370, rs1555091636, rs766641715, rs1555095933, rs1555099541, rs775792432, rs1555103458, rs1555105202, rs878864531, rs1555107286, rs1555061466, rs1403288739, rs548172627, rs1555067667, rs914189193, rs1555076948, rs1279918132, rs782694195, rs1555090442, rs1555090885, rs1555093028, rs1480697910, rs1555096223, rs1555100200, rs1555100273, rs1555100315, rs1555102041, rs1192104600, rs1555103532, rs1299898646, rs1453053718, rs1397834886, rs1555107555, rs1555109612, rs773945008, rs564622720, rs1555082145, rs782468194, rs1555085978, rs1555090168, rs1226046110, rs1555100625, rs1555101858, rs1555102147, rs1555105135, rs1555106609, rs1268984037, rs755934966, rs750647872, rs776930594, rs111033477, rs1591467894, rs1591286671, rs1591470904, rs1956938352, rs1591286221, rs1555067598, rs1591369118, rs1296612982, rs760251968, rs1591467918, rs782281371, rs1957512851, rs782639389, rs749747871, rs1954226902, rs1956759935, rs1952434877, rs371374104, rs1236207116, rs1307924861, rs1555051419, rs1951307710, rs1951308166, rs782347270, rs1952532000, rs1555064033, rs1952585733, rs1952682554, rs782747153, rs1953058015, rs1953066164, rs1954237712, rs1954248090, rs1954250327, rs1461201353, rs1555082575, rs1955017383, rs1407246264, rs1955177223, rs1955180601, rs1955281533, rs1955333327, rs1956130442, rs1956149175, rs1956480240, rs1956485578, rs1956496669, rs1956761177, rs1956761416, rs1956843097, rs1181067492, rs1591474980, rs1407313220, rs768418736, rs1957393464, rs1957431273, rs1406392019, rs1957520697, rs1957642707, rs186644871, rs1957842461, rs530700420, rs1957851234, rs1957904821	RCV005634126 RCV005634130 RCV005635151 RCV004596451 RCV005005243 RCV001526726 RCV001526727 RCV002290719 RCV002307752 RCV005005996 RCV005006044 RCV001808115 RCV005006069 RCV001808270 RCV001809336 RCV002307784 RCV005002637 RCV005002713 RCV005002718 RCV004546689 RCV002245268 RCV002245497 RCV002251273 RCV000151505 RCV005008060 RCV003326124 RCV000155243 RCV000665283 RCV001810427 RCV001808415 RCV002306470 RCV002306622 RCV002306798 RCV000666967 RCV000674570 RCV002478450 RCV002309670 RCV002309830 RCV002309892 RCV002309931 RCV002307862 RCV002307942 RCV000675112 RCV002308117 RCV002308136 RCV002308225 RCV002308278 RCV000675162 RCV002308351 RCV002309015 RCV002463651 RCV002309087 RCV002306829 RCV002306842 RCV002306856 RCV002306887 RCV002306899 RCV002306905 RCV002307014 RCV002307016 RCV002307033 RCV002307245 RCV002307267 RCV002307334 RCV002310071 RCV002310329 RCV002310439 RCV002308403 RCV002308409 RCV002308436 RCV002463838 RCV005002926 RCV003155502 RCV000667070 RCV005008715 RCV005636621 RCV000240660 RCV000210299 RCV000222769 RCV000675133 RCV000984198 RCV005252821 RCV000674391 RCV000760968 RCV003228765 RCV005012820 RCV000669392 RCV000665766 RCV005007838 RCV000665804 RCV000669149 RCV004795396 RCV005407189 RCV005003690 RCV005013111 RCV005637036 RCV005013170 RCV005003741 RCV003990486 RCV004557250 RCV000410053 RCV000408981 RCV000667896 RCV000670142 RCV000449574 RCV005007888 RCV001003086 RCV001003090 RCV005004160 RCV000672808 RCV005004180 RCV005010388 RCV005004196 RCV000666535 RCV000670176 RCV000670174 RCV000671853 RCV005004197 RCV000505567 RCV005870644 RCV000668877 RCV001003083 RCV001002727 RCV000666645 RCV000672265 RCV000665311 RCV000036055 RCV000666110 RCV000036068 RCV000036073 RCV002477079 RCV000036082 RCV000765015 RCV005007942 RCV002496550 RCV000664470 RCV004795953 RCV000036122 RCV005003424 RCV000036127 RCV002482971 RCV000036133 RCV000673536 RCV005003425 RCV000670662 RCV005003426 RCV004786306 RCV000673155 RCV005007944 RCV004786307 RCV000763283 RCV000668897 RCV002504884 RCV000036199 RCV000669133 RCV000675068 RCV000665920 RCV001376327 RCV000036218 RCV005632199 RCV000036223 RCV000675104 RCV000515404 RCV000664694 RCV000675126 RCV005003429 RCV000674972 RCV000664572 RCV000672865 RCV000671042 RCV000667248 RCV000670895 RCV000669802 RCV000668486 RCV000672185 RCV000668658 RCV000666719 RCV000671534 RCV000667646 RCV000669030 RCV000668185 RCV000667676 RCV000669072 RCV000668632 RCV000671659 RCV000668615 RCV000669696 RCV000668444 RCV000670043 RCV000665847 RCV000669350 RCV000670122 RCV000665547 RCV000674688 RCV000666120 RCV000673649 RCV000665251 RCV000674728 RCV000673005 RCV000671898 RCV000673133 RCV000671897 RCV000670271 RCV000674779 RCV000673992 RCV001810472 RCV000664858 RCV000674069 RCV000664644 RCV000671459 RCV000672010 RCV000671701 RCV000666761 RCV000674024 RCV000671977 RCV000670356 RCV000670858 RCV000674582 RCV000670888 RCV000674217 RCV000672007 RCV000672591 RCV000672578 RCV000669035 RCV000673007 RCV000666730 RCV000667049 RCV000674636 RCV000670160 RCV000673801 RCV000673719 RCV000673745 RCV000674211 RCV000671875 RCV000665743 RCV000673825 RCV000668610 RCV000674703 RCV000673408 RCV000666616 RCV000763281 RCV005004404 RCV002501115 RCV001002685 RCV001003082 RCV001003088 RCV001003085 RCV001199713 RCV001004378 RCV001004379 RCV001004380 RCV001004381 RCV001004382 RCV001029770 RCV001809972 RCV005005031 RCV005012534 RCV003227909 RCV001587218 RCV005225319 RCV002480760 RCV005012665 RCV005417359 RCV001264284 RCV001264285 RCV001264286 RCV001263712 RCV001263713 RCV001263714 RCV001263715 RCV001263716 RCV001263717 RCV001263718 RCV001263799 RCV001263800 RCV001263801 RCV001263802 RCV001263803 RCV001263804 RCV001263805 RCV001263806 RCV001264302 RCV001264303 RCV001264304 RCV001264305 RCV001264306 RCV001264307 RCV001264308 RCV001264309 RCV001263735 RCV001263736 RCV001263737 RCV001263738 RCV001263739 RCV001263740 RCV001263741 RCV001263742 RCV001263821 RCV001263822 RCV001263823 RCV001263824 RCV001263825 RCV001263826 RCV001263827 RCV001263828 RCV001263994 RCV001263995 RCV001263996 RCV001263998 RCV001263997	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Usher syndrome type 1B	Pathogenic; Likely pathogenic	rs1952694662, rs1953513223, rs757896867, rs778009227, rs866352637, rs373169422, rs376764423, rs111033403, rs797044510, rs782252317, rs781977497, rs779796704, rs876657655, rs121965079, rs41298133, rs1555062984, rs28934610, rs121965080, rs121965082, rs121965083, rs35689081, rs121965085, rs1453718975, rs2496744582, rs1555105118, rs782198012, rs201892914, rs201539845, rs782166819, rs761469964, rs1555051455, rs782077721, rs111033415, rs111033206, rs111033180, rs111033201, rs397516295, rs111033233, rs199897298, rs111033214, rs397516303, rs111033178, rs111033347, rs397516308, rs111033337, rs397516315, rs111033174, rs397516317, rs368657015, rs397516321, rs111033215, rs111033192, rs111033232, rs397516326, rs111033486, rs111033283, rs397516330, rs397516332, rs111033285, rs1052030, rs782279338, rs782787126, rs782064437, rs1472566324, rs766641715, rs878864531, rs1555076948, rs1555103532, rs1555105135, rs755934966, rs750647872, rs782281371, rs778934538, rs780609120, rs1555078815, rs1236207116, rs1201586094, rs782347270	RCV001831399 RCV005606825 RCV005606822 RCV001826164 RCV001827468 RCV001826829 RCV001831964 RCV001831942 RCV001831959 RCV001831960 RCV005608856 RCV005608826 RCV001275529 RCV000012621 RCV000012622 RCV000012623 RCV000012624 RCV000012625 RCV000012631 RCV000012633 RCV000012634 RCV000012635 RCV003320029 RCV005608967 RCV005608983 RCV005610686 RCV001828377 RCV001275897 RCV001829440 RCV001829663 RCV001834916 RCV001272493 RCV001831626 RCV001831628 RCV001272497 RCV001272498 RCV001831630 RCV003114213 RCV001272512 RCV001826545 RCV001826546 RCV001272514 RCV001835643 RCV001835644 RCV005606638 RCV005606639 RCV001826551 RCV001273512 RCV001273514 RCV001826553 RCV001273516 RCV001831641 RCV001831643 RCV001275528 RCV001275896 RCV001835646 RCV001275537 RCV001275540 RCV001275899 RCV005606684 RCV001829868 RCV001829848 RCV001830451 RCV001835089 RCV001835074 RCV001835911 RCV005606697 RCV005606694 RCV005606690 RCV001835077 RCV000680440 RCV001832540 RCV001832511 RCV001828538 RCV005606781 RCV001833964 RCV001834092 RCV005606794	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Usher syndrome type 2	Likely pathogenic; Pathogenic	rs1057519225, rs1954240719, rs782396605	RCV001199710 RCV001199711 RCV001199712	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT ISOLATED SENSORINEURAL DEAFNESS TYPE DFNA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood onset hearing loss	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cohen syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-rod dystrophy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL EAR ANOMALY NOS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NYSTAGMUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 11	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 80	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 2	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hearing loss, autosomal dominant 80	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatomegaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoglycemia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEBER CONGENITAL AMAUROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEWY BODY DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonsyndromic Hearing Loss, Dominant	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ovarian serous cystadenocarcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pendred syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENDREDS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis pigmentosa-deafness syndrome	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Sarcoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short stature	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME, TYPE 1B	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME, TYPE I	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROMES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Age related macular degeneration	Age-related macular degeneration	BEFREE	23365660		★☆☆☆☆ Found in Text Mining only
Amaurosis congenita of Leber, type 1	Leber congenital amaurosis	BEFREE	21901789		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Auditory neuropathy	Auditory Neuropathy	BEFREE	12324385		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Auditory neuropathy spectrum disorder	Auditory neuropathy	BEFREE	12324385, 28731162		★☆☆☆☆ Found in Text Mining only
Autosomal dominant non-syndromic sensorineural deafness type DFNA	Non-Syndromic Sensorineural Deafness	Orphanet			★☆☆☆☆ Found in Text Mining only
Autosomal recessive non-syndromic sensorineural deafness type DFNB	Non-Syndromic Sensorineural Deafness	Orphanet			★☆☆☆☆ Found in Text Mining only
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	BEFREE	10409426		★☆☆☆☆ Found in Text Mining only
Blindness, Legal	Blindness	BEFREE	27828912		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30719228		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	33835720	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	33835720	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital sensorineural hearing loss	Congenital Sensorineural Hearing Loss	BEFREE	8622919		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	21031134, 23226338, 26011067, 27013738, 27344577, 27573290, 28660889, 29568747, 29692870, 33187236, 33671976, 33724713, 33976695, 34997062, 35106950, 36597107, 37996878	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deafness Autosomal Dominant 1	Deafness	Pubtator	18518985, 18667942, 20132242, 36071244	Associate	★☆☆☆☆ Found in Text Mining only
Deafness Autosomal Recessive	Deafness	Pubtator	29568747, 9150164	Associate	★☆☆☆☆ Found in Text Mining only
Deafness Autosomal Recessive 2	Deafness	Pubtator	21031134, 28472130	Associate	★☆☆☆☆ Found in Text Mining only
Deafness, Autosomal Dominant 11	Deafness	BEFREE	11889386, 11992483, 15221449, 23383098		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Dominant 11	Deafness	UNIPROT_DG	15121790, 15221449, 15300860, 9354784		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Dominant 11	Deafness	GENOMICS_ENGLAND_DG	9843659		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Dominant 11	Deafness	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Dominant 11	Deafness	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Dominant 12	Deafness	BEFREE	9150164		★☆☆☆☆ Found in Text Mining only
Deafness, Autosomal Dominant 13	Deafness	BEFREE	12324385		★☆☆☆☆ Found in Text Mining only
Deafness, Autosomal Dominant 9	Deafness	BEFREE	12324385		★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE 2	Deafness	CLINVAR_DG	10094549, 10447383, 10930322, 12112664, 15043528, 15660226, 15823922, 16400615, 16470552, 16679490, 16963483, 17361009, 18181211, 18484607, 18700726, 19074810, 19299023, 19375528, 19683999, 20052763, 20497194, 20613545, 20844544, 21311020, 21436283, 21569298, 21738395, 21873662, 22135276, 22898263, 23148716, 23208854, 23451239, 23559863, 23591405, 23770805, 23804846, 24105371, 24164807, 24194196, 24618850, 24831256, 24997346, 25080338, 25404053, 25468891, 25558175, 25575603, 25788563, 26226137, 26309859, 26338283, 26445815, 26486028, 26561413, 26791358, 26969326, 27068579, 27160483, 27344577, 27460420, 27583663, 27610647, 27729122, 27957503, 28281779, 28451532, 28472130, 8900236, 9002678, 9171832, 9382091		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 2	Deafness	BEFREE	12324385, 18181211, 21031134		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 2	Deafness	UNIPROT_DG	28281779, 9171832, 9171833		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 2	Deafness	GENOMICS_ENGLAND_DG	7870171, 9843659		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 2	Deafness	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Epiretinal Membrane	Epiretinal Membrane	BEFREE	31479088		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hallucinations	Hallucinations	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	16001398, 19888295, 20132242, 21378158, 23770805, 24105371, 24164807, 26001786, 27573290, 28281779, 29196752, 29568747, 29692870, 30123251, 30303587, 30872814, 31898538, 32134349, 32681043, 32864763, 32991204, 33187236, 33671976, 34148116, 34154485, 34194829, 34824372, 35106950, 37996878, 39967327	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing Loss Sensorineural	Hearing loss	Pubtator	20146813, 27013738, 34391192, 34795337, 35779349	Associate	★☆☆☆☆ Found in Text Mining only
Hemianopsia	Hemianopsia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hereditary retinal dystrophy	Hereditary Retinal Dystrophy	CLINGEN_DG	10958658, 18181211, 23559863, 25211151, 27013738, 28400833, 28660889, 7870172, 8622919		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	30872814	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leber Congenital Amaurosis	Leber Congenital Amaurosis	BEFREE	21901789, 24664764		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leber Congenital Amaurosis	Leber congenital amaurosis	Pubtator	21901789	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Linear atrophy	Atrophy	BEFREE	23457544		★☆☆☆☆ Found in Text Mining only
Low frequency deafness	Low-frequency hearing loss	BEFREE	12324385, 21150918		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	35422093	Associate	★☆☆☆☆ Found in Text Mining only
Macular Edema, Cystoid	Cystoid macular edema	BEFREE	31479088		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30719228		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	CTD_human_DG	22535842		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
melanoma	Melanoma	BEFREE	29361540		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Melanoma	Pubtator	35085295	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Meniere Disease	Meniere disease	Pubtator	34391192	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microdontia (disorder)	Microdontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	10094549, 15221449, 17361009, 18181211, 20132242, 21150918, 21174530, 7870171, 8776602, 8900236, 9171833, 9354784, 9382091		★☆☆☆☆ Found in Text Mining only
Myopathies Nemaline	Nemaline myopathy	Pubtator	21873662	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	10704189, 11889386, 11992483, 18181211, 18348273, 19299023, 19372648, 21031134, 24194196, 24275721, 26968074, 30826590, 31035849, 9927480		★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINGEN_DG	15121790, 15221449, 15300860, 15389316, 16449806, 21150918, 23383098, 23451214, 28802369, 29400105, 9354784		★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal syndrome	Pubtator	21378158	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	16001398, 23365660, 33507217	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	21031134		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	21873662, 21901789	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	10502787, 10612833, 21031134, 21940737, 23882135, 23991031, 8622919, 8842737		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	23882135, 32795431, 34391192, 34824372	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	CLINVAR_DG	30718709		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rod-Cone Dystrophy	Rod-cone dystrophy	BEFREE	31479088		★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	11889386, 21031134, 21150918		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural hearing loss, bilateral	Sensorineural hearing loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
STARGARDT DISEASE 1 (disorder)	Stargardt disease	BEFREE	24572793		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	37215115	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	Pubtator	40725401	Associate	★☆☆☆☆ Found in Text Mining only
Subcortical cerebral atrophy	Subcortical cerebral atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Usher Syndrome	Usher Syndrome	CLINVAR_DG	10094549, 10930322, 17361009, 18181211, 24831256, 25404053, 25472526, 27460420, 28439001, 28944237, 9718356		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Usher Syndrome	Usher Syndrome	BEFREE	10574757, 10704190, 12112664, 15221449, 15592175, 15823922, 16470552, 17268537, 18484607, 18700726, 21031134, 21709241, 21873662, 21936790, 22898263, 24014347, 24831256, 25080338, 25404053, 25558175, 25605753, 26338283, 26469752, 27409480, 27828912, 28507101, 28731162, 29142287, 29287847, 29287864, 29430167, 29605349, 30826590, 31644917, 8884267, 9761396		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Usher Syndrome	Usher Syndrome	LHGDN	15823922, 15965244, 16470552		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Usher Syndrome	Usher Syndrome	CTD_human_DG	15965244		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Usher syndrome type 1	Usher Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Usher syndrome type 1B	Usher syndrome	Pubtator	11060213, 16679490, 17093394, 18700726, 20132242, 21031134, 21873662, 22681893, 23559863, 26001786, 26791358, 28472130, 31320737, 34391192, 36164746, 8825055, 8900236, 9382091	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Usher syndrome type 2	Usher Syndrome	BEFREE	15823922, 27729122		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Usher syndrome type 2	Usher Syndrome	ORPHANET_DG	24831256		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Usher syndrome type 2	Usher Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Usher Syndrome Type IF	Usher syndrome	Pubtator	18700726, 21873662, 23365660, 24831256, 38141656	Associate	★☆☆☆☆ Found in Text Mining only
Usher syndrome, type 1A	Usher Syndrome	BEFREE	10094549, 10930322, 16470552, 18181211, 20052763, 20497194, 20844544, 22219650, 22690115, 23559863, 24199935, 24831256, 28688563, 29287847, 29416772, 31320737, 8900236		★☆☆☆☆ Found in Text Mining only
Usher syndrome, type 1A	Usher Syndrome	CTD_human_DG	15965244		★☆☆☆☆ Found in Text Mining only
Usher syndrome, type 1B	Usher Syndrome	BEFREE	10704189, 11889386, 15221449, 15965244, 16470552, 17268537, 17960123, 19074810, 20132242, 24194196, 26001786, 26968074, 28346292, 28472130, 7870171, 9171832, 9382091		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher syndrome, type 1B	Usher Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher Syndrome, Type I	Usher Syndrome	BEFREE	10094549, 10930322, 15660226, 15823922, 16470552, 16679490, 20052763, 20497194, 20844544, 22219650, 22690115, 23045546, 23237960, 23559863, 24199935, 24831256, 25080338, 26791358, 28688563, 29287847, 29416772, 31320737, 31479088, 7870171, 8825055, 8900236, 9002666, 9002678, 9610802		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher Syndrome, Type I	Usher Syndrome	CLINVAR_DG	10094549, 10447383, 10930322, 12112664, 15043528, 15660226, 15823922, 16400615, 16470552, 16679490, 16963483, 17361009, 18181211, 18700726, 19074810, 19299023, 19683999, 20052763, 20497194, 20613545, 21311020, 21436283, 21569298, 21738395, 21873662, 22135276, 22898263, 23148716, 23451239, 23559863, 23591405, 23770805, 23804846, 24105371, 24164807, 24194196, 24618850, 24831256, 24997346, 25080338, 25404053, 25468891, 25558175, 25575603, 25788563, 26309859, 26338283, 26445815, 26791358, 26872967, 26969326, 27068579, 27440999, 27460420, 27583663, 27610647, 27729122, 27957503, 28281779, 28472130, 8900236, 9002678, 9171832, 9382091, 9718356		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher Syndrome, Type I	Usher Syndrome	UNIPROT_DG	10094549, 10364543, 10447383, 10930322, 12112664, 15660226, 16679490, 23559863, 24831256, 25798947, 7870171, 8900236, 9002678, 9382091, 9718356		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher Syndrome, Type I	Usher Syndrome	CLINGEN_DG	10958658, 18181211, 23559863, 25211151, 27013738, 28400833, 28660889, 7870172, 8622919		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher Syndrome, Type I	Usher Syndrome	GENOMICS_ENGLAND_DG	7870171, 9843659		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY	Usher Syndrome	CLINGEN_DG	10958658, 18181211, 23559863, 25211151, 27013738, 28400833, 28660889, 7870172, 8622919		★☆☆☆☆ Found in Text Mining only
USHER SYNDROME, TYPE IA, FORMERLY	Usher Syndrome	CLINGEN_DG	10958658, 18181211, 23559863, 25211151, 27013738, 28400833, 28660889, 7870172, 8622919		★☆☆☆☆ Found in Text Mining only
USHER SYNDROME, TYPE IB (disorder)	Usher Syndrome	BEFREE	10447383, 11992483, 16470552, 17960123, 18700726, 19074810, 20132242, 21873662, 23704327, 23991031, 24194196, 24572793, 26968074, 28472130, 8622919, 9002678, 9070921, 9382091, 9703432, 9843659, 9927480		★☆☆☆☆ Found in Text Mining only
USHER SYNDROME, TYPE IB (disorder)	Usher Syndrome	CLINGEN_DG	10958658, 18181211, 23559863, 25211151, 27013738, 28400833, 28660889, 7870172, 8622919		★☆☆☆☆ Found in Text Mining only
USHER SYNDROME, TYPE IB (disorder)	Usher Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Usher Syndrome, Type II	Usher Syndrome	CTD_human_DG	15965244		★☆☆☆☆ Found in Text Mining only
Usher Syndrome, Type II	Usher Syndrome	ORPHANET_DG	24831256		★☆☆☆☆ Found in Text Mining only
Usher Syndrome, Type III	Usher Syndrome	CTD_human_DG	15965244		★☆☆☆☆ Found in Text Mining only
Usher Syndrome, Type III	Usher Syndrome	BEFREE	8622919		★☆☆☆☆ Found in Text Mining only
Usher Syndromes	Usher syndrome	Pubtator	11060213, 15592175, 16001398, 17093394, 18700726, 21031134, 22219650, 22681893, 22690115, 23559863, 24618850, 24831256, 25211151, 25404053, 25558175, 25575603, 25798947, 26338283, 27440999, 31320737, 33576163, 33835720, 34148116, 34837038, 34948090, 36011334, 37165311, 37466950, 38141656, 38189974, 39337481, 40269797, 8825055, 8900236	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher Syndromes	Usher syndrome	Pubtator	23882135	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vestibular Diseases	Vestibular disease	Pubtator	34391192	Associate	★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	21873662, 29142287	Associate	★☆☆☆☆ Found in Text Mining only