CTNS (cystinosin, lysosomal cystine transporter)

Gene

• Entrez ID: 1497
• Gene name: Cystinosin, lysosomal cystine transporter
• Gene symbol: CTNS
• Synonyms (NCBI Gene): CTNS-LSB, PQLC4, SLC66A4
• Chromosome: 17
• Chromosome location: 17p13.2
• Summary: This gene encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Its activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutations in this gene cause cystinosis, a lysosomal storage

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121908127	G>A	Pathogenic	Coding sequence variant, missense variant
rs375952052	G>A,C	Likely-pathogenic, pathogenic	Intron variant
rs1057517330	T>C	Likely-pathogenic	Stop lost, intron variant, terminator codon variant
rs1555564823	->G	Likely-pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022765	hsa-miR-124-3p	Microarray	18668037
MIRT029732	hsa-miR-26b-5p	Microarray	19088304
MIRT044666	hsa-miR-320a	CLASH	23622248
MIRT650943	hsa-miR-6819-3p	HITS-CLIP	23824327
MIRT650942	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT650941	hsa-miR-4714-3p	HITS-CLIP	23824327
MIRT650939	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT650940	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT650935	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT650934	hsa-miR-507	HITS-CLIP	23824327
MIRT650933	hsa-miR-557	HITS-CLIP	23824327
MIRT650932	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT650931	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT650938	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT650936	hsa-miR-7106-3p	HITS-CLIP	23824327
MIRT650937	hsa-miR-6772-3p	HITS-CLIP	23824327
MIRT650935	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT650934	hsa-miR-507	HITS-CLIP	23824327
MIRT650933	hsa-miR-557	HITS-CLIP	23824327
MIRT650932	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT650931	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT478542	hsa-miR-5571-5p	PAR-CLIP	23592263
MIRT478541	hsa-miR-5697	PAR-CLIP	23592263
MIRT478540	hsa-miR-4691-3p	PAR-CLIP	23592263
MIRT478539	hsa-miR-660-3p	PAR-CLIP	23592263
MIRT478537	hsa-miR-4722-3p	PAR-CLIP	23592263
MIRT478538	hsa-miR-6727-3p	PAR-CLIP	23592263
MIRT478536	hsa-miR-939-3p	PAR-CLIP	23592263
MIRT478535	hsa-miR-6852-5p	PAR-CLIP	23592263
MIRT478534	hsa-miR-6742-3p	PAR-CLIP	23592263
MIRT478533	hsa-miR-1281	PAR-CLIP	23592263
MIRT478532	hsa-miR-3653-5p	PAR-CLIP	23592263
MIRT478531	hsa-miR-1976	PAR-CLIP	23592263
MIRT478530	hsa-miR-6791-3p	PAR-CLIP	23592263
MIRT478529	hsa-miR-6829-3p	PAR-CLIP	23592263
MIRT478528	hsa-miR-23a-5p	PAR-CLIP	23592263
MIRT478527	hsa-miR-23b-5p	PAR-CLIP	23592263
MIRT478526	hsa-miR-1297	PAR-CLIP	23592263
MIRT478525	hsa-miR-26a-5p	PAR-CLIP	23592263
MIRT029732	hsa-miR-26b-5p	PAR-CLIP	23592263
MIRT478523	hsa-miR-4465	PAR-CLIP	23592263
MIRT478524	hsa-miR-3157-5p	PAR-CLIP	23592263
MIRT478522	hsa-miR-1343-3p	PAR-CLIP	23592263
MIRT478521	hsa-miR-6783-3p	PAR-CLIP	23592263
MIRT478520	hsa-miR-4279	PAR-CLIP	23592263
MIRT650943	hsa-miR-6819-3p	HITS-CLIP	23824327
MIRT650942	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT650941	hsa-miR-4714-3p	HITS-CLIP	23824327
MIRT650939	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT650940	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT650935	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT650934	hsa-miR-507	HITS-CLIP	23824327
MIRT650933	hsa-miR-557	HITS-CLIP	23824327
MIRT650932	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT650931	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT650938	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT650936	hsa-miR-7106-3p	HITS-CLIP	23824327
MIRT650937	hsa-miR-6772-3p	HITS-CLIP	23824327
MIRT650935	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT650934	hsa-miR-507	HITS-CLIP	23824327
MIRT650933	hsa-miR-557	HITS-CLIP	23824327
MIRT650932	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT650931	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT478542	hsa-miR-5571-5p	PAR-CLIP	23592263
MIRT478541	hsa-miR-5697	PAR-CLIP	23592263
MIRT478540	hsa-miR-4691-3p	PAR-CLIP	23592263
MIRT478539	hsa-miR-660-3p	PAR-CLIP	23592263
MIRT478537	hsa-miR-4722-3p	PAR-CLIP	23592263
MIRT478538	hsa-miR-6727-3p	PAR-CLIP	23592263
MIRT478536	hsa-miR-939-3p	PAR-CLIP	23592263
MIRT478535	hsa-miR-6852-5p	PAR-CLIP	23592263
MIRT478534	hsa-miR-6742-3p	PAR-CLIP	23592263
MIRT478533	hsa-miR-1281	PAR-CLIP	23592263
MIRT478532	hsa-miR-3653-5p	PAR-CLIP	23592263
MIRT478531	hsa-miR-1976	PAR-CLIP	23592263
MIRT478530	hsa-miR-6791-3p	PAR-CLIP	23592263
MIRT478529	hsa-miR-6829-3p	PAR-CLIP	23592263
MIRT478528	hsa-miR-23a-5p	PAR-CLIP	23592263
MIRT478527	hsa-miR-23b-5p	PAR-CLIP	23592263
MIRT478526	hsa-miR-1297	PAR-CLIP	23592263
MIRT478525	hsa-miR-26a-5p	PAR-CLIP	23592263
MIRT029732	hsa-miR-26b-5p	PAR-CLIP	23592263
MIRT478523	hsa-miR-4465	PAR-CLIP	23592263
MIRT478524	hsa-miR-3157-5p	PAR-CLIP	23592263
MIRT478522	hsa-miR-1343-3p	PAR-CLIP	23592263
MIRT478521	hsa-miR-6783-3p	PAR-CLIP	23592263
MIRT478520	hsa-miR-4279	PAR-CLIP	23592263
MIRT915217	hsa-let-7a	CLIP-seq
MIRT915218	hsa-let-7b	CLIP-seq
MIRT915219	hsa-let-7c	CLIP-seq
MIRT915220	hsa-let-7d	CLIP-seq
MIRT915221	hsa-let-7e	CLIP-seq
MIRT915222	hsa-let-7f	CLIP-seq
MIRT915223	hsa-let-7g	CLIP-seq
MIRT915224	hsa-let-7i	CLIP-seq
MIRT915225	hsa-miR-106a	CLIP-seq
MIRT915226	hsa-miR-106b	CLIP-seq
MIRT915227	hsa-miR-122	CLIP-seq
MIRT915228	hsa-miR-1231	CLIP-seq
MIRT915229	hsa-miR-1253	CLIP-seq
MIRT915230	hsa-miR-125a-3p	CLIP-seq
MIRT915231	hsa-miR-1273f	CLIP-seq
MIRT915232	hsa-miR-1273g	CLIP-seq
MIRT915233	hsa-miR-150	CLIP-seq
MIRT915234	hsa-miR-17	CLIP-seq
MIRT915235	hsa-miR-185	CLIP-seq
MIRT915236	hsa-miR-20a	CLIP-seq
MIRT915237	hsa-miR-20b	CLIP-seq
MIRT915238	hsa-miR-296-5p	CLIP-seq
MIRT915239	hsa-miR-298	CLIP-seq
MIRT915240	hsa-miR-302a	CLIP-seq
MIRT915241	hsa-miR-302b	CLIP-seq
MIRT915242	hsa-miR-302c	CLIP-seq
MIRT915243	hsa-miR-302d	CLIP-seq
MIRT915244	hsa-miR-302e	CLIP-seq
MIRT915245	hsa-miR-3149	CLIP-seq
MIRT915246	hsa-miR-3170	CLIP-seq
MIRT915247	hsa-miR-3192	CLIP-seq
MIRT915248	hsa-miR-342-5p	CLIP-seq
MIRT915249	hsa-miR-3689d	CLIP-seq
MIRT915250	hsa-miR-372	CLIP-seq
MIRT915251	hsa-miR-373	CLIP-seq
MIRT915252	hsa-miR-411	CLIP-seq
MIRT915253	hsa-miR-4251	CLIP-seq
MIRT915254	hsa-miR-4299	CLIP-seq
MIRT915255	hsa-miR-4300	CLIP-seq
MIRT915256	hsa-miR-4306	CLIP-seq
MIRT915257	hsa-miR-4312	CLIP-seq
MIRT915258	hsa-miR-4314	CLIP-seq
MIRT915259	hsa-miR-4329	CLIP-seq
MIRT915260	hsa-miR-4438	CLIP-seq
MIRT915261	hsa-miR-4456	CLIP-seq
MIRT915262	hsa-miR-4458	CLIP-seq
MIRT915263	hsa-miR-4500	CLIP-seq
MIRT915264	hsa-miR-4640-5p	CLIP-seq
MIRT915265	hsa-miR-4644	CLIP-seq
MIRT915266	hsa-miR-4646-5p	CLIP-seq
MIRT915267	hsa-miR-4648	CLIP-seq
MIRT915268	hsa-miR-4651	CLIP-seq
MIRT915269	hsa-miR-4654	CLIP-seq
MIRT915270	hsa-miR-4664-5p	CLIP-seq
MIRT915271	hsa-miR-4726-5p	CLIP-seq
MIRT915272	hsa-miR-4731-5p	CLIP-seq
MIRT915273	hsa-miR-4749-3p	CLIP-seq
MIRT915274	hsa-miR-4757-5p	CLIP-seq
MIRT915275	hsa-miR-4769-5p	CLIP-seq
MIRT915276	hsa-miR-4797-5p	CLIP-seq
MIRT915277	hsa-miR-5095	CLIP-seq
MIRT915278	hsa-miR-512-3p	CLIP-seq
MIRT915279	hsa-miR-519d	CLIP-seq
MIRT915280	hsa-miR-520a-3p	CLIP-seq
MIRT915281	hsa-miR-520b	CLIP-seq
MIRT915282	hsa-miR-520c-3p	CLIP-seq
MIRT915283	hsa-miR-520d-3p	CLIP-seq
MIRT915284	hsa-miR-520e	CLIP-seq
MIRT915285	hsa-miR-520g	CLIP-seq
MIRT915286	hsa-miR-520h	CLIP-seq
MIRT915287	hsa-miR-541	CLIP-seq
MIRT915288	hsa-miR-548q	CLIP-seq
MIRT915289	hsa-miR-608	CLIP-seq
MIRT915290	hsa-miR-640	CLIP-seq
MIRT915291	hsa-miR-654-5p	CLIP-seq
MIRT915292	hsa-miR-759	CLIP-seq
MIRT915293	hsa-miR-920	CLIP-seq
MIRT915294	hsa-miR-93	CLIP-seq
MIRT915295	hsa-miR-98	CLIP-seq
MIRT1971459	hsa-miR-1343	CLIP-seq
MIRT915235	hsa-miR-185	CLIP-seq
MIRT1971460	hsa-miR-26a	CLIP-seq
MIRT1971461	hsa-miR-26b	CLIP-seq
MIRT915245	hsa-miR-3149	CLIP-seq
MIRT915256	hsa-miR-4306	CLIP-seq
MIRT1971462	hsa-miR-4641	CLIP-seq
MIRT915265	hsa-miR-4644	CLIP-seq
MIRT1971463	hsa-miR-4694-5p	CLIP-seq
MIRT1971464	hsa-miR-4708-5p	CLIP-seq
MIRT1971465	hsa-miR-4722-5p	CLIP-seq
MIRT915272	hsa-miR-4731-5p	CLIP-seq
MIRT1971466	hsa-miR-4735-5p	CLIP-seq
MIRT1971467	hsa-miR-4747-5p	CLIP-seq
MIRT1971468	hsa-miR-4768-3p	CLIP-seq
MIRT1971469	hsa-miR-4775	CLIP-seq
MIRT1971470	hsa-miR-486-5p	CLIP-seq
MIRT1971471	hsa-miR-590-3p	CLIP-seq
MIRT915227	hsa-miR-122	CLIP-seq
MIRT2207170	hsa-miR-130a	CLIP-seq
MIRT2207171	hsa-miR-130b	CLIP-seq
MIRT1971459	hsa-miR-1343	CLIP-seq
MIRT915235	hsa-miR-185	CLIP-seq
MIRT1971460	hsa-miR-26a	CLIP-seq
MIRT1971461	hsa-miR-26b	CLIP-seq
MIRT2207172	hsa-miR-301a	CLIP-seq
MIRT2207173	hsa-miR-301b	CLIP-seq
MIRT2207174	hsa-miR-3135b	CLIP-seq
MIRT2207175	hsa-miR-3652	CLIP-seq
MIRT2207176	hsa-miR-3666	CLIP-seq
MIRT2207177	hsa-miR-4258	CLIP-seq
MIRT2207178	hsa-miR-4295	CLIP-seq
MIRT915256	hsa-miR-4306	CLIP-seq
MIRT2207179	hsa-miR-4423-5p	CLIP-seq
MIRT2207180	hsa-miR-4430	CLIP-seq
MIRT2207181	hsa-miR-4463	CLIP-seq
MIRT2207182	hsa-miR-4494	CLIP-seq
MIRT2207183	hsa-miR-4496	CLIP-seq
MIRT2207184	hsa-miR-454	CLIP-seq
MIRT915265	hsa-miR-4644	CLIP-seq
MIRT2207185	hsa-miR-4667-3p	CLIP-seq
MIRT2207186	hsa-miR-4690-5p	CLIP-seq
MIRT2207187	hsa-miR-4707-3p	CLIP-seq
MIRT1971465	hsa-miR-4722-5p	CLIP-seq
MIRT1971468	hsa-miR-4768-3p	CLIP-seq
MIRT2207188	hsa-miR-4769-3p	CLIP-seq
MIRT915277	hsa-miR-5095	CLIP-seq
MIRT2207189	hsa-miR-552	CLIP-seq
MIRT2207190	hsa-miR-562	CLIP-seq
MIRT2207191	hsa-miR-578	CLIP-seq
MIRT2207192	hsa-miR-661	CLIP-seq
MIRT2207193	hsa-miR-764	CLIP-seq
MIRT2386566	hsa-miR-1291	CLIP-seq
MIRT2386567	hsa-miR-328	CLIP-seq
MIRT2386568	hsa-miR-3661	CLIP-seq
MIRT2207177	hsa-miR-4258	CLIP-seq
MIRT2386569	hsa-miR-4292	CLIP-seq
MIRT2386570	hsa-miR-4486	CLIP-seq
MIRT2386571	hsa-miR-4499	CLIP-seq
MIRT2386572	hsa-miR-4513	CLIP-seq
MIRT2207187	hsa-miR-4707-3p	CLIP-seq
MIRT915277	hsa-miR-5095	CLIP-seq
MIRT2207189	hsa-miR-552	CLIP-seq
MIRT2386573	hsa-miR-631	CLIP-seq
MIRT2207193	hsa-miR-764	CLIP-seq
MIRT915227	hsa-miR-122	CLIP-seq
MIRT2447782	hsa-miR-1270	CLIP-seq
MIRT915231	hsa-miR-1273f	CLIP-seq
MIRT2447783	hsa-miR-1287	CLIP-seq
MIRT2447784	hsa-miR-1299	CLIP-seq
MIRT2207170	hsa-miR-130a	CLIP-seq
MIRT2207171	hsa-miR-130b	CLIP-seq
MIRT2447785	hsa-miR-143	CLIP-seq
MIRT2207172	hsa-miR-301a	CLIP-seq
MIRT2207173	hsa-miR-301b	CLIP-seq
MIRT2207174	hsa-miR-3135b	CLIP-seq
MIRT2207175	hsa-miR-3652	CLIP-seq
MIRT2207176	hsa-miR-3666	CLIP-seq
MIRT2207177	hsa-miR-4258	CLIP-seq
MIRT2207178	hsa-miR-4295	CLIP-seq
MIRT2447786	hsa-miR-4307	CLIP-seq
MIRT2207179	hsa-miR-4423-5p	CLIP-seq
MIRT2207180	hsa-miR-4430	CLIP-seq
MIRT2447787	hsa-miR-4452	CLIP-seq
MIRT2447788	hsa-miR-4466	CLIP-seq
MIRT2447789	hsa-miR-4531	CLIP-seq
MIRT2447790	hsa-miR-4534	CLIP-seq
MIRT2207184	hsa-miR-454	CLIP-seq
MIRT2447791	hsa-miR-4632	CLIP-seq
MIRT1971462	hsa-miR-4641	CLIP-seq
MIRT2447792	hsa-miR-4653-3p	CLIP-seq
MIRT2447793	hsa-miR-4683	CLIP-seq
MIRT2447794	hsa-miR-4698	CLIP-seq
MIRT2207187	hsa-miR-4707-3p	CLIP-seq
MIRT1971464	hsa-miR-4708-5p	CLIP-seq
MIRT1971466	hsa-miR-4735-5p	CLIP-seq
MIRT915273	hsa-miR-4749-3p	CLIP-seq
MIRT2447795	hsa-miR-4770	CLIP-seq
MIRT2447796	hsa-miR-487b	CLIP-seq
MIRT2447797	hsa-miR-519a	CLIP-seq
MIRT2447798	hsa-miR-519b-3p	CLIP-seq
MIRT2447799	hsa-miR-519c-3p	CLIP-seq
MIRT2447800	hsa-miR-545	CLIP-seq
MIRT2447801	hsa-miR-548c-3p	CLIP-seq
MIRT2207191	hsa-miR-578	CLIP-seq
MIRT2447802	hsa-miR-620	CLIP-seq
MIRT2447803	hsa-miR-671-5p	CLIP-seq
MIRT2447804	hsa-miR-675	CLIP-seq
MIRT2447805	hsa-miR-875-3p	CLIP-seq
MIRT2447806	hsa-miR-9	CLIP-seq
MIRT2447782	hsa-miR-1270	CLIP-seq
MIRT2447783	hsa-miR-1287	CLIP-seq
MIRT2447784	hsa-miR-1299	CLIP-seq
MIRT2207174	hsa-miR-3135b	CLIP-seq
MIRT2447786	hsa-miR-4307	CLIP-seq
MIRT2447787	hsa-miR-4452	CLIP-seq
MIRT2447788	hsa-miR-4466	CLIP-seq
MIRT2447789	hsa-miR-4531	CLIP-seq
MIRT2447791	hsa-miR-4632	CLIP-seq
MIRT1971462	hsa-miR-4641	CLIP-seq
MIRT2447793	hsa-miR-4683	CLIP-seq
MIRT2447794	hsa-miR-4698	CLIP-seq
MIRT1971464	hsa-miR-4708-5p	CLIP-seq
MIRT915273	hsa-miR-4749-3p	CLIP-seq
MIRT2447796	hsa-miR-487b	CLIP-seq
MIRT2447800	hsa-miR-545	CLIP-seq
MIRT2447801	hsa-miR-548c-3p	CLIP-seq
MIRT2447802	hsa-miR-620	CLIP-seq
MIRT2447803	hsa-miR-671-5p	CLIP-seq
MIRT2447804	hsa-miR-675	CLIP-seq
MIRT2447805	hsa-miR-875-3p	CLIP-seq
MIRT2447806	hsa-miR-9	CLIP-seq
MIRT915227	hsa-miR-122	CLIP-seq
MIRT2510240	hsa-miR-1225-3p	CLIP-seq
MIRT2447782	hsa-miR-1270	CLIP-seq
MIRT915231	hsa-miR-1273f	CLIP-seq
MIRT2510241	hsa-miR-1276	CLIP-seq
MIRT2447783	hsa-miR-1287	CLIP-seq
MIRT2447784	hsa-miR-1299	CLIP-seq
MIRT1971459	hsa-miR-1343	CLIP-seq
MIRT2447785	hsa-miR-143	CLIP-seq
MIRT2510242	hsa-miR-1827	CLIP-seq
MIRT2510243	hsa-miR-2355-5p	CLIP-seq
MIRT2510244	hsa-miR-2467-3p	CLIP-seq
MIRT2207174	hsa-miR-3135b	CLIP-seq
MIRT915245	hsa-miR-3149	CLIP-seq
MIRT2510245	hsa-miR-3173-3p	CLIP-seq
MIRT2510246	hsa-miR-3189-5p	CLIP-seq
MIRT2510247	hsa-miR-3616-5p	CLIP-seq
MIRT2510248	hsa-miR-3622a-5p	CLIP-seq
MIRT2510249	hsa-miR-3647-5p	CLIP-seq
MIRT2510250	hsa-miR-3649	CLIP-seq
MIRT2207175	hsa-miR-3652	CLIP-seq
MIRT2510251	hsa-miR-3677-5p	CLIP-seq
MIRT2510252	hsa-miR-3919	CLIP-seq
MIRT2510253	hsa-miR-3924	CLIP-seq
MIRT2510254	hsa-miR-3940-3p	CLIP-seq
MIRT2510255	hsa-miR-409-5p	CLIP-seq
MIRT2207177	hsa-miR-4258	CLIP-seq
MIRT2510256	hsa-miR-4261	CLIP-seq
MIRT2447786	hsa-miR-4307	CLIP-seq
MIRT2510257	hsa-miR-4323	CLIP-seq
MIRT2207179	hsa-miR-4423-5p	CLIP-seq
MIRT2510258	hsa-miR-4424	CLIP-seq
MIRT2207180	hsa-miR-4430	CLIP-seq
MIRT2447787	hsa-miR-4452	CLIP-seq
MIRT2510259	hsa-miR-4464	CLIP-seq
MIRT2447788	hsa-miR-4466	CLIP-seq
MIRT2510260	hsa-miR-4476	CLIP-seq
MIRT2447789	hsa-miR-4531	CLIP-seq
MIRT2510261	hsa-miR-4533	CLIP-seq
MIRT2447790	hsa-miR-4534	CLIP-seq
MIRT2447791	hsa-miR-4632	CLIP-seq
MIRT1971462	hsa-miR-4641	CLIP-seq
MIRT2447792	hsa-miR-4653-3p	CLIP-seq
MIRT2207185	hsa-miR-4667-3p	CLIP-seq
MIRT2510262	hsa-miR-4682	CLIP-seq
MIRT2447793	hsa-miR-4683	CLIP-seq
MIRT2447794	hsa-miR-4698	CLIP-seq
MIRT2207187	hsa-miR-4707-3p	CLIP-seq
MIRT1971464	hsa-miR-4708-5p	CLIP-seq
MIRT2510263	hsa-miR-4721	CLIP-seq
MIRT1971466	hsa-miR-4735-5p	CLIP-seq
MIRT1971467	hsa-miR-4747-5p	CLIP-seq
MIRT2510264	hsa-miR-4748	CLIP-seq
MIRT915273	hsa-miR-4749-3p	CLIP-seq
MIRT2510265	hsa-miR-4756-3p	CLIP-seq
MIRT2207188	hsa-miR-4769-3p	CLIP-seq
MIRT2447795	hsa-miR-4770	CLIP-seq
MIRT1971469	hsa-miR-4775	CLIP-seq
MIRT2510266	hsa-miR-4795-5p	CLIP-seq
MIRT2510267	hsa-miR-4796-3p	CLIP-seq
MIRT915276	hsa-miR-4797-5p	CLIP-seq
MIRT2447796	hsa-miR-487b	CLIP-seq
MIRT2447797	hsa-miR-519a	CLIP-seq
MIRT2447798	hsa-miR-519b-3p	CLIP-seq
MIRT2447799	hsa-miR-519c-3p	CLIP-seq
MIRT2447800	hsa-miR-545	CLIP-seq
MIRT2447801	hsa-miR-548c-3p	CLIP-seq
MIRT2510268	hsa-miR-573	CLIP-seq
MIRT2207191	hsa-miR-578	CLIP-seq
MIRT1971471	hsa-miR-590-3p	CLIP-seq
MIRT2510269	hsa-miR-595	CLIP-seq
MIRT2510270	hsa-miR-598	CLIP-seq
MIRT2447802	hsa-miR-620	CLIP-seq
MIRT2510271	hsa-miR-659	CLIP-seq
MIRT2447803	hsa-miR-671-5p	CLIP-seq
MIRT2447804	hsa-miR-675	CLIP-seq
MIRT2510272	hsa-miR-873	CLIP-seq
MIRT2447805	hsa-miR-875-3p	CLIP-seq
MIRT2447806	hsa-miR-9	CLIP-seq
MIRT1971459	hsa-miR-1343	CLIP-seq
MIRT1971464	hsa-miR-4708-5p	CLIP-seq
MIRT915227	hsa-miR-122	CLIP-seq
MIRT2510240	hsa-miR-1225-3p	CLIP-seq
MIRT2447782	hsa-miR-1270	CLIP-seq
MIRT915231	hsa-miR-1273f	CLIP-seq
MIRT2510241	hsa-miR-1276	CLIP-seq
MIRT2447783	hsa-miR-1287	CLIP-seq
MIRT2447784	hsa-miR-1299	CLIP-seq
MIRT2207170	hsa-miR-130a	CLIP-seq
MIRT2207171	hsa-miR-130b	CLIP-seq
MIRT1971459	hsa-miR-1343	CLIP-seq
MIRT2510242	hsa-miR-1827	CLIP-seq
MIRT2510244	hsa-miR-2467-3p	CLIP-seq
MIRT2678768	hsa-miR-27a	CLIP-seq
MIRT2678769	hsa-miR-27b	CLIP-seq
MIRT2678770	hsa-miR-296-3p	CLIP-seq
MIRT915238	hsa-miR-296-5p	CLIP-seq
MIRT2207172	hsa-miR-301a	CLIP-seq
MIRT2207173	hsa-miR-301b	CLIP-seq
MIRT2207174	hsa-miR-3135b	CLIP-seq
MIRT2678771	hsa-miR-3147	CLIP-seq
MIRT915245	hsa-miR-3149	CLIP-seq
MIRT2510245	hsa-miR-3173-3p	CLIP-seq
MIRT2510246	hsa-miR-3189-5p	CLIP-seq
MIRT2510248	hsa-miR-3622a-5p	CLIP-seq
MIRT2510250	hsa-miR-3649	CLIP-seq
MIRT2207175	hsa-miR-3652	CLIP-seq
MIRT2207176	hsa-miR-3666	CLIP-seq
MIRT2510251	hsa-miR-3677-5p	CLIP-seq
MIRT2510252	hsa-miR-3919	CLIP-seq
MIRT2510255	hsa-miR-409-5p	CLIP-seq
MIRT915252	hsa-miR-411	CLIP-seq
MIRT2510256	hsa-miR-4261	CLIP-seq
MIRT2207178	hsa-miR-4295	CLIP-seq
MIRT2510257	hsa-miR-4323	CLIP-seq
MIRT2207179	hsa-miR-4423-5p	CLIP-seq
MIRT2207180	hsa-miR-4430	CLIP-seq
MIRT2447787	hsa-miR-4452	CLIP-seq
MIRT2510259	hsa-miR-4464	CLIP-seq
MIRT2510260	hsa-miR-4476	CLIP-seq
MIRT2447789	hsa-miR-4531	CLIP-seq
MIRT2510261	hsa-miR-4533	CLIP-seq
MIRT2207184	hsa-miR-454	CLIP-seq
MIRT2447791	hsa-miR-4632	CLIP-seq
MIRT1971462	hsa-miR-4641	CLIP-seq
MIRT2678772	hsa-miR-4663	CLIP-seq
MIRT2207185	hsa-miR-4667-3p	CLIP-seq
MIRT2447793	hsa-miR-4683	CLIP-seq
MIRT1971464	hsa-miR-4708-5p	CLIP-seq
MIRT1971466	hsa-miR-4735-5p	CLIP-seq
MIRT1971467	hsa-miR-4747-5p	CLIP-seq
MIRT2510264	hsa-miR-4748	CLIP-seq
MIRT915273	hsa-miR-4749-3p	CLIP-seq
MIRT2510265	hsa-miR-4756-3p	CLIP-seq
MIRT2207188	hsa-miR-4769-3p	CLIP-seq
MIRT2678773	hsa-miR-4772-3p	CLIP-seq
MIRT2678774	hsa-miR-4772-5p	CLIP-seq
MIRT1971469	hsa-miR-4775	CLIP-seq
MIRT2510267	hsa-miR-4796-3p	CLIP-seq
MIRT2678775	hsa-miR-513a-5p	CLIP-seq
MIRT2447797	hsa-miR-519a	CLIP-seq
MIRT2447798	hsa-miR-519b-3p	CLIP-seq
MIRT2447799	hsa-miR-519c-3p	CLIP-seq
MIRT2447800	hsa-miR-545	CLIP-seq
MIRT2447801	hsa-miR-548c-3p	CLIP-seq
MIRT1971471	hsa-miR-590-3p	CLIP-seq
MIRT2510270	hsa-miR-598	CLIP-seq
MIRT2447802	hsa-miR-620	CLIP-seq
MIRT2678776	hsa-miR-628-5p	CLIP-seq
MIRT2510271	hsa-miR-659	CLIP-seq
MIRT2447803	hsa-miR-671-5p	CLIP-seq
MIRT2510272	hsa-miR-873	CLIP-seq
MIRT2447805	hsa-miR-875-3p	CLIP-seq
MIRT2447806	hsa-miR-9	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002088	Process	Lens development in camera-type eye	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005764	Component	Lysosome	IDA	11855931, 12138135, 15128704, 18337546
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005765	Component	Lysosomal membrane	IBA
GO:0005765	Component	Lysosomal membrane	IDA	11150305, 11689434, 15128704, 22232659
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005765	Component	Lysosomal membrane	NAS	9537412
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005769	Component	Early endosome	IDA	11150305
GO:0005770	Component	Late endosome	IDA	15128704
GO:0005886	Component	Plasma membrane	IDA	18337546, 22232659
GO:0005886	Component	Plasma membrane	IEA
GO:0006520	Process	Amino acid metabolic process	NAS	9537412
GO:0006749	Process	Glutathione metabolic process	IMP	15956064
GO:0006811	Process	Monoatomic ion transport	TAS
GO:0007420	Process	Brain development	IMP	17471495
GO:0007616	Process	Long-term memory	IEA
GO:0007625	Process	Grooming behavior	IEA
GO:0007628	Process	Adult walking behavior	IEA
GO:0008542	Process	Visual learning	IEA
GO:0015031	Process	Protein transport	IEA
GO:0015184	Function	L-cystine transmembrane transporter activity	IBA
GO:0015184	Function	L-cystine transmembrane transporter activity	IDA	11689434, 15128704, 22232659, 36113465
GO:0015184	Function	L-cystine transmembrane transporter activity	IEA
GO:0015184	Function	L-cystine transmembrane transporter activity	IMP	15128704
GO:0015184	Function	L-cystine transmembrane transporter activity	NAS	9537412
GO:0015184	Function	L-cystine transmembrane transporter activity	TAS
GO:0015293	Function	Symporter activity	IEA
GO:0015295	Function	Solute:proton symporter activity	IDA	11689434, 22232659, 36113465
GO:0015811	Process	L-cystine transport	IBA
GO:0015811	Process	L-cystine transport	IDA	18337546
GO:0015811	Process	L-cystine transport	IDA	11689434, 15128704, 22232659
GO:0015811	Process	L-cystine transport	IEA
GO:0015811	Process	L-cystine transport	IMP	7112129, 15128704
GO:0015811	Process	L-cystine transport	NAS	9537412
GO:0016020	Component	Membrane	IEA
GO:0033162	Component	Melanosome membrane	IEA
GO:0042438	Process	Melanin biosynthetic process	IEA
GO:0042470	Component	Melanosome	IDA	22649030
GO:0046034	Process	ATP metabolic process	IMP	16439594
GO:0048021	Process	Regulation of melanin biosynthetic process	IMP	22649030
GO:0048513	Process	Animal organ development	IEA
GO:0048731	Process	System development	IEA
GO:0050890	Process	Cognition	IEA
GO:0050890	Process	Cognition	IMP	17471495
GO:0055085	Process	Transmembrane transport	TAS
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:1902600	Process	Proton transmembrane transport	IEA
GO:1903432	Process	Regulation of TORC1 signaling	IDA	36113465
GO:1903432	Process	Regulation of TORC1 signaling	IEA
GO:1904263	Process	Positive regulation of TORC1 signaling	IEA

Other IDs

• MIM: 606272
• HGNC: 2518
• e!Ensembl: ENSG00000040531

Protein

• UniProt ID: O60931
• Protein name: Cystinosin
• Protein function: Cystine/H(+) symporter that mediates export of cystine, the oxidized dimer of cysteine, from lysosomes (PubMed:11689434, PubMed:15128704, PubMed:18337546, PubMed:22232659, PubMed:29467429, PubMed:33208952, PubMed:36113465). Plays an important ro
• PDB: 8DKE, 8DKI, 8DKM, 8DKW, 8DKX, 8DYP
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04193	PQ-loop	126 → 186	PQ loop repeat	Repeat
  PF04193	PQ-loop	265 → 325	PQ loop repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Strongly expressed in pancreas, kidney (adult and fetal), skeletal muscle, melanocytes and keratinocytes (PubMed:22649030). Expressed at lower levels in placenta and heart. Weakly expressed in lung, liver and brain (adult and fetal) (P
• Sequence:

  MIRNWLTIFILFPLKLVEKCESSVSLTVPPVVKLENGSSTNVSLTLRPPLNATLVITFEI
  TFRSKNITILELPDEVVVPPGVTNSSFQVTSQNVGQLTVYLHGNHSNQTGPRIRFLVIRS
  SAISIINQVIGWIYFVAWSISFYPQVIMNWRRKSVIGLSFDFVALNLTGFVAYSVFNIGL
  LWVPYIKEQFLLKYPNGVNPVNSNDVFFSLHAVVLTLIIIVQCCLYERGGQRVSWPAIGF
  LVLAWLFAFVTMIVAAVGVTTWLQFLFCFSYIKLAVTLVKYFPQAYMNFYYKSTEGWSIG
  NVLLDFTGGSFSLLQMFLQSYNNDQWTLIFGDPTKFGLGVFSIVFDVVFFIQHFCLYRKR
  PGYDQLN

• Sequence length: 367

Pathways

KEGG:

Lysosome

Reactome:

Transport of inorganic cations/anions and amino acids/oligopeptides
Miscellaneous transport and binding events

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
CTNS-related disorder	Likely pathogenic; Pathogenic	rs2150889009, rs786204501, rs113994205, rs121908127, rs113994206, rs113994209, rs113994211, rs879758262, rs1463026342	RCV005867007 RCV003917579 RCV005222667 RCV003904807 RCV004748534 RCV004748535 RCV004748536 RCV004730977 RCV004731074	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cystinosis	Likely pathogenic; Pathogenic	rs776658046, rs2150925451, rs2142982656, rs1597654770, rs786204501, rs786204667, rs760256854, rs786204420, rs113994205, rs113994207, rs121908127, rs267606754, rs2507794316, rs2507777392, rs879255615, rs879255614, rs879255613, rs879255616, rs550254092, rs764168489, rs746307931, rs756182448, rs2142981652, rs1463544406, rs113994204, rs113994206, rs113994208, rs113994211, rs745365232, rs893207601, rs879758262, rs1475322504, rs759623796, rs776842972, rs375952052, rs778414542, rs1555563982, rs752919200, rs1567709909, rs1436441738, rs2075652654, rs2076101632, rs749317721	RCV005420398 RCV005420402 RCV006249789 RCV005420424 RCV005419883 RCV005419884 RCV005419882 RCV005419881 RCV005419858 RCV005419860 RCV005419861 RCV005419862 RCV005420438 RCV005420441 RCV005419891 RCV005419892 RCV005419894 RCV005419895 RCV005419943 RCV005419945 RCV005419946 RCV005420445 RCV005636945 RCV005637046 RCV005419866 RCV005419867 RCV005419868 RCV005419869 RCV005614404 RCV005420205 RCV005420209 RCV005420215 RCV005420214 RCV005420218 RCV005420221 RCV005420225 RCV005420224 RCV005420223 RCV005420237 RCV005420249 RCV005420278 RCV005420380 RCV005420384	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cystinosis, atypical nephropathic	Pathogenic; Likely pathogenic	rs121908129, rs267606754	RCV000004710 RCV000004712	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gastric cancer	Pathogenic	rs749317721	RCV005909147	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Infantile nephropathic cystinosis	Pathogenic; Likely pathogenic	rs786204501, rs113994211, rs375952052	RCV001843488 RCV001843459 RCV001843534	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Juvenile nephropathic cystinosis	Likely pathogenic; Pathogenic	rs776658046, rs2076200436, rs2150925336, rs2150925451, rs2150925483, rs2150889009, rs2150904623, rs2150904759, rs2150919035, rs2150925108, rs752180212, rs767289120, rs2150922764, rs2150888913, rs2150922730, rs2075650925, rs2150906974, rs2076101974, rs753451110, rs766981777, rs2142982656, rs770145986, rs746307931, rs2142981161, rs1555558116, rs1597654770, rs2507742346, rs2507764701, rs2076092608, rs786204501, rs786204541, rs786204434, rs786204667, rs760256854, rs786204420, rs908965524, rs2507696018, rs113994205, rs121908126, rs113994207, rs121908127, rs121908128, rs267606754, rs2507741403, rs2507686230, rs2507793620, rs2507789960, rs879255615, rs879255614, rs550254092, rs764168489, rs2075909295, rs2507742712, rs1390032475, rs893207601, rs2076151594, rs2507762815, rs1338364389, rs1463544406, rs2507775363, rs1567701415, rs2507745496, rs2507697337, rs760905567, rs867630648, rs2507761574, rs113994204, rs113994206, rs113994208, rs113994209, rs113994211, rs879758262, rs1475322504, rs759623796, rs375952052, rs1555558099, rs1555561048, rs778414542, rs1555564588, rs1555564600, rs1555563982, rs917630768, rs1555561049, rs1555563446, rs752919200, rs1567713938, rs1436441738, rs1597647930, rs1057516771, rs1597619719, rs1463026342, rs1411094034, rs1407498555, rs2075652654, rs2076101632, rs2075906916, rs2076198741, rs2076198775, rs2075872773, rs749317721, rs376042415, rs2076100759	RCV002543797 RCV005112666 RCV002550249 RCV002550250 RCV003104056 RCV002551566 RCV002550258 RCV003104061 RCV002551536 RCV002551580 RCV003774937 RCV002675467 RCV002571228 RCV002568524 RCV002548050 RCV002554156 RCV002564386 RCV002553659 RCV002563619 RCV002560501 RCV002563630 RCV002563626 RCV002569141 RCV002564402 RCV002592624 RCV003096120 RCV003099148 RCV005096134 RCV005096137 RCV000004695 RCV003765055 RCV003765053 RCV002515201 RCV002516526 RCV002517624 RCV003041267 RCV002612623 RCV002512763 RCV002512764 RCV002512766 RCV002512767 RCV000004709 RCV000004711 RCV002829960 RCV002842576 RCV002857093 RCV002991528 RCV003765488 RCV003765489 RCV002519020 RCV002519021 RCV002518787 RCV003779167 RCV003779168 RCV003779169 RCV003779170 RCV003783688 RCV003783689 RCV003783690 RCV003788406 RCV003805424 RCV003799064 RCV003801433 RCV003808925 RCV003802290 RCV003809979 RCV003812815 RCV002513139 RCV002513140 RCV002513141 RCV002513142 RCV002513143 RCV002523866 RCV002527666 RCV005091543 RCV002530936 RCV002528837 RCV002532139 RCV002532045 RCV002531208 RCV003768007 RCV005091955 RCV002530698 RCV002530676 RCV002531336 RCV003768016 RCV002530677 RCV003768260 RCV002537248 RCV002537328 RCV002536032 RCV002535938 RCV002537249 RCV005092986 RCV002553915 RCV002551408 RCV003768960 RCV002561138 RCV002561165 RCV002561869 RCV002563769 RCV002563971 RCV002563779 RCV002563996 RCV003770373 RCV005094262	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephropathic cystinosis	Likely pathogenic; Pathogenic	rs776658046, rs2076200436, rs2142982540, rs2150923282, rs2150925451, rs2150889009, rs752180212, rs767289120, rs2150922764, rs753451110, rs766981777, rs1597654770, rs1567701415, rs2507742346, rs2507764701, rs2076092608, rs786204501, rs786204550, rs786204541, rs786204434, rs786204667, rs760256854, rs786204632, rs786204420, rs2507696018, rs121908124, rs1567695026, rs113994205, rs121908126, rs113994207, rs121908127, rs121908128, rs267606754, rs879255615, rs879255614, rs550254092, rs764168489, rs746307931, rs879255616, rs2075909295, rs2076100543, rs2507761348, rs2507793590, rs2507788947, rs1431410587, rs2507686855, rs2507742712, rs2507790386, rs2076245419, rs2507776875, rs2507741403, rs2507763369, rs1390032475, rs893207601, rs2507762791, rs2142981652, rs2507794658, rs2076151594, rs867630648, rs2507760503, rs1555561049, rs2507741451, rs2507760798, rs2507745996, rs2507793584, rs751669616, rs113994204, rs113994206, rs113994208, rs113994209, rs113994211, rs1057516296, rs955833453, rs745365232, rs1057516723, rs1057516771, rs763089013, rs1057517330, rs1064795587, rs879758262, rs1475322504, rs759623796, rs776842972, rs375952052, rs1555558034, rs1555558099, rs1555560637, rs777367316, rs1555558078, rs1555562830, rs1555558116, rs1555561048, rs1555563568, rs778414542, rs1555563658, rs1555563010, rs1555564588, rs1555564600, rs1555563982, rs917630768, rs1555564823, rs1555563446, rs1555563521, rs752919200, rs1567713938, rs1436441738, rs1597647930, rs1463026342, rs1411094034, rs1407498555, rs2075652654, rs2076150607, rs2075872773, rs749317721, rs376042415, rs2076100759	RCV005094392 RCV005112666 RCV001375476 RCV001376688 RCV003469636 RCV003473988 RCV002283979 RCV005095521 RCV005095489 RCV005095475 RCV003475175 RCV003471301 RCV002283924 RCV005096130 RCV005096134 RCV005096137 RCV000169183 RCV000169266 RCV000169252 RCV000169050 RCV000169470 RCV000169014 RCV000169407 RCV000169007 RCV005059171 RCV000004691 RCV000004692 RCV000004693 RCV000004699 RCV000169004 RCV000004708 RCV003466816 RCV000169140 RCV000672038 RCV002279718 RCV000989680 RCV005090321 RCV002051832 RCV003337819 RCV003475800 RCV003475802 RCV003475804 RCV003475805 RCV003475806 RCV003475807 RCV003475808 RCV003475809 RCV003475810 RCV003475811 RCV003475812 RCV003475813 RCV003475814 RCV003475815 RCV003475816 RCV003468559 RCV003468560 RCV003468561 RCV004577615 RCV004527465 RCV005101444 RCV003885436 RCV004576124 RCV004575709 RCV004575710 RCV004575711 RCV004575712 RCV004577305 RCV000020623 RCV000020624 RCV000020625 RCV000020626 RCV000020627 RCV000409604 RCV000410250 RCV000409104 RCV000411977 RCV000410327 RCV000410717 RCV000411177 RCV000411915 RCV000675105 RCV000004703 RCV000666666 RCV000984254 RCV003465352 RCV000664494 RCV000667805 RCV000672996 RCV000672882 RCV000670911 RCV000664511 RCV000670480 RCV000674116 RCV000665684 RCV000666948 RCV000668750 RCV000674879 RCV000672610 RCV000673974 RCV000672051 RCV000666815 RCV000666309 RCV000673539 RCV000673312 RCV000674853 RCV000664510 RCV000666310 RCV000735813 RCV003338814 RCV003472408 RCV005092459 RCV003473516 RCV004569836 RCV005093352 RCV003467715 RCV003467783 RCV001090155 RCV003473798 RCV003473819 RCV005094261 RCV005094262	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephrotic syndrome	Pathogenic	rs786204632	RCV001849327	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ocular cystinosis	Likely pathogenic; Pathogenic	rs776658046, rs2076200436, rs2150925336, rs2150925451, rs2150925483, rs2150889009, rs2150904623, rs2150904759, rs2150919035, rs2150925108, rs752180212, rs767289120, rs2150922764, rs2150888913, rs2150922730, rs2075650925, rs2150906974, rs2076101974, rs753451110, rs766981777, rs2142982656, rs770145986, rs746307931, rs2142981161, rs1555558116, rs1597654770, rs2507742346, rs2507764701, rs2076092608, rs786204501, rs786204541, rs786204434, rs786204667, rs760256854, rs786204420, rs908965524, rs2507696018, rs113994205, rs121908126, rs113994210, rs113994207, rs887657778, rs2507610571, rs121908127, rs121908128, rs267606754, rs2507741403, rs2507686230, rs2507793620, rs2507789960, rs879255615, rs879255614, rs550254092, rs764168489, rs2075909295, rs2507742712, rs1390032475, rs893207601, rs2507776613, rs2076151594, rs2507762815, rs1338364389, rs1463544406, rs2507775363, rs1567701415, rs2507745496, rs2507697337, rs760905567, rs867630648, rs2507761574, rs113994204, rs113994206, rs113994208, rs113994209, rs113994211, rs879758262, rs1475322504, rs759623796, rs375952052, rs1555558099, rs1555561048, rs778414542, rs1555564588, rs1555564600, rs1555563982, rs917630768, rs1555561049, rs1555563446, rs752919200, rs1567713938, rs1436441738, rs1597647930, rs1057516771, rs1597619719, rs1463026342, rs1411094034, rs1407498555, rs2075652654, rs2076101632, rs2075906916, rs2076198741, rs2076198775, rs2075872773, rs749317721, rs376042415, rs2076100759	RCV002543797 RCV005112666 RCV002550249 RCV002550250 RCV003104056 RCV002551566 RCV002550258 RCV003104061 RCV002551536 RCV002551580 RCV003774937 RCV002675467 RCV002571228 RCV002568524 RCV002548050 RCV002554156 RCV002564386 RCV002553659 RCV002563619 RCV002560501 RCV002563630 RCV002563626 RCV002569141 RCV002564402 RCV002592624 RCV003096120 RCV003099148 RCV005096134 RCV005096137 RCV002516530 RCV003765055 RCV003765053 RCV002515201 RCV002516526 RCV002517624 RCV003041267 RCV002612623 RCV002512763 RCV002512764 RCV000004702 RCV000004704 RCV000004706 RCV000004707 RCV002512767 RCV002512768 RCV002512769 RCV002829960 RCV002842576 RCV002857093 RCV002991528 RCV003765488 RCV003765489 RCV002519020 RCV002519021 RCV002518787 RCV003779167 RCV003779168 RCV003779169 RCV003779170 RCV003455885 RCV003783688 RCV003783689 RCV003783690 RCV003788406 RCV003805424 RCV003799064 RCV003801433 RCV003808925 RCV003802290 RCV003809979 RCV003812815 RCV002513139 RCV002513140 RCV002513141 RCV002513142 RCV002513143 RCV002523866 RCV002527666 RCV005091543 RCV002530936 RCV002528837 RCV002532139 RCV002532045 RCV002531208 RCV003768007 RCV005091955 RCV002530698 RCV002530676 RCV002531336 RCV003768016 RCV002530677 RCV003768260 RCV002537248 RCV002537328 RCV002536032 RCV002535938 RCV002537249 RCV005092986 RCV002553915 RCV002551408 RCV003768960 RCV002561138 RCV002561165 RCV002561869 RCV002563769 RCV002563971 RCV002563779 RCV002563996 RCV003770373 RCV005094262	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYSTINOSIS, ADULT NONNEPHROPATHIC	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYSTINOSIS, BENIGN, NONNEPHROPATHIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYSTINOSIS, INFANTILE NEPHROPATHIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYSTINOSIS, NEPHROPATHIC	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYSTINOSIS, OCULAR NONNEPHROPATHIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROPATHIC INFANTILE CYSTINOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult Fanconi syndrome	Fanconi syndrome	BEFREE	15365816, 27990015		★☆☆☆☆ Found in Text Mining only
Adult Fanconi syndrome	Fanconi syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	29365190		★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of the kidney and urinary tract	Pubtator	27151922	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cystinosis	Cystinosis	BEFREE	10417278, 10556299, 10571941, 11505338, 11708862, 11855931, 12138135, 12204010, 12442267, 15128704, 15264281, 15365816, 15465007, 17471495, 17643777, 19852576, 21195649, 22209718, 22450360, 22649030, 22786804, 22822152, 22912749, 22982317, 23169667, 23861466, 25326109, 26994576, 27083281, 27269891, 27990015, 28033491, 28082515, 28198397, 28238446, 29421779, 29467429, 29789935, 29806776, 30030899, 30513914, 30554218, 30591971, 30671973, 30849045, 30928021, 30949462, 30957593, 31601865, 9792862		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cystinosis	Cystinosis	Pubtator	10417278, 11505338, 15879904, 20352457, 21786142, 22450360, 22786804, 23640116, 25071085, 25165189, 25866837, 25947233, 26565940, 26915455, 27083281, 27148969, 27734949, 28238446, 28950840, 29549422, 30030899, 31331465, 31570786, 31672123, 31888107, 33270859, 33308164, 34572146, 34643468, 34911613, 35260693, 35406807, 35513889, 35524314, 35977944, 35997069, 36674769, 36768921, 37561577, 37949358, 38018544, 38069326, 38087330, 39504626, 9792862	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cystinosis	Cystinosis	CLINVAR_DG	10556299, 10571941, 10625078, 11505338, 11562417, 11708862, 12204010, 12442267, 12644911, 15128704, 18752449, 19580442, 19863563, 21305353, 21786142, 22232659, 22528245, 22664570, 24464559, 26266097, 26489029, 27533158, 27625850, 9537412, 9792862		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cystinosis	Cystinosis	CTD_human_DG	15879904		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cystinosis	Cystinosis	Pubtator	25811383, 26994576	Inhibit	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cystinosis Infantile Nephropathic	Nephropathic cystinosis	Pubtator	33822926	Associate	★☆☆☆☆ Found in Text Mining only
CYSTINOSIS, ATYPICAL NEPHROPATHIC (disorder)	Cystinosis	GENOMICS_ENGLAND_DG	219750		★☆☆☆☆ Found in Text Mining only
CYSTINOSIS, ATYPICAL NEPHROPATHIC (disorder)	Cystinosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cystinosis, benign, nonnephropathic	Cystinosis	GENOMICS_ENGLAND_DG	10444339, 19863563, 27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystinosis, benign, nonnephropathic	Cystinosis	CLINVAR_DG	10482956, 10556299, 10625078, 11505338, 11689434, 11855931, 12204010, 15128704, 18178779, 18752449, 19852576, 19863563, 25326109, 26266097, 27102039, 27858370, 28276207, 28649545, 9537412, 9792862		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystinosis, benign, nonnephropathic	Cystinosis	UNIPROT_DG	10625078		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystinosis, benign, nonnephropathic	Cystinosis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
De Toni-Debre-Fanconi Syndrome	Fanconi Syndrome	BEFREE	30794806		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	17709758		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exocrine pancreatic insufficiency	Exocrine pancreatic insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	30794806		★☆☆☆☆ Found in Text Mining only
Fanconi Syndrome	Fanconi Syndrome	BEFREE	10417278, 11855931, 12204010, 15879904, 18752449, 19580442, 20079424, 20352457, 22544350, 26565940, 27269891, 28238446, 29365190, 29549422, 30413946, 30591971, 30794806, 31331465, 31548351		★☆☆☆☆ Found in Text Mining only
Fanconi Syndrome	Fanconi syndrome	Pubtator	15885099, 25165189, 31888107	Associate	★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	BEFREE	17709758		★☆☆☆☆ Found in Text Mining only
Hypohidrosis	Hypohidrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypophosphatemic Rickets	Hypophosphatemic Rickets	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	17471495		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Infantile nephropathic cystinosis	Nephropathic Cystinosis	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Juvenile nephropathic cystinosis	Nephropathic Cystinosis	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Juvenile nephropathic cystinosis (disorder)	Juvenile nephropathic cystinosis	BEFREE	10444339		★☆☆☆☆ Found in Text Mining only
Juvenile nephropathic cystinosis (disorder)	Juvenile nephropathic cystinosis	UNIPROT_DG	10444339, 12442267, 9792862		★☆☆☆☆ Found in Text Mining only
Juvenile nephropathic cystinosis (disorder)	Juvenile nephropathic cystinosis	GENOMICS_ENGLAND_DG	10444339, 19863563, 27604308, 9537412		★☆☆☆☆ Found in Text Mining only
Juvenile nephropathic cystinosis (disorder)	Juvenile nephropathic cystinosis	CLINVAR_DG	10482956, 10556299, 10625078, 11505338, 11689434, 11855931, 12204010, 15128704, 18178779, 18752449, 19852576, 19863563, 25326109, 26266097, 27102039, 27858370, 28276207, 28649545, 9537412, 9792862		★☆☆☆☆ Found in Text Mining only
Juvenile nephropathic cystinosis (disorder)	Juvenile nephropathic cystinosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	10571941, 30928021		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	23640116		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	BEFREE	11731489		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephropathic cystinosis	Nephropathic Cystinosis	BEFREE	10417278, 11855931, 12204010, 15879904, 18752449, 19580442, 20079424, 20352457, 22544350, 26565940, 27269891, 28238446, 29365190, 29549422, 30413946, 30591971, 31331465, 31548351		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephropathic cystinosis	Nephropathic Cystinosis	GENOMICS_ENGLAND_DG	10444339, 19863563, 27604308, 9537412		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephropathic cystinosis	Nephropathic Cystinosis	CLINVAR_DG	10482956, 10556299, 10625078, 11505338, 11565547, 11689434, 11855931, 12204010, 12442267, 12825071, 15128704, 18178779, 18752449, 19852576, 19863563, 21786142, 21963264, 22450360, 23640116, 24464559, 25326109, 26266097, 26565940, 27102039, 27451386, 27858370, 28238446, 28276207, 28649545, 29421779, 9537412, 9792862		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephropathic cystinosis	Nephropathic Cystinosis	UNIPROT_DG	10482956, 10556299, 12204010, 12442267, 12825071, 19852576, 21786142, 22450360, 9792862		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephropathic cystinosis	Nephropathic Cystinosis	LHGDN	11505338, 11565547, 15365816, 18752449		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephropathic cystinosis	Nephropathic Cystinosis	CTD_human_DG	15879904		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ocular cystinosis	Ocular Cystinosis	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteopenia	Osteopenia	BEFREE	30794806		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	31354022		★☆☆☆☆ Found in Text Mining only
Phosphate Diabetes	Phosphate Diabetes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rachitic rosary	Rachitic rosary	HPO_DG			★☆☆☆☆ Found in Text Mining only
Recurrent erosion of cornea	Erosion Of Cornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal tubular disorder	Renal Tubular Disorder	BEFREE	30591971		★☆☆☆☆ Found in Text Mining only
Renal tubular disorder	Renal Tubular Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	17709758		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rickets	Rickets	HPO_DG			★☆☆☆☆ Found in Text Mining only
Testicular hypogonadism	Testicular Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
X-linked retinitis pigmentosa	Retinitis Pigmentosa, X-Linked	BEFREE	11731489		★☆☆☆☆ Found in Text Mining only