CRX (cone-rod homeobox)

Gene

• Entrez ID: 1406
• Gene name: Cone-rod homeobox
• Gene symbol: CRX
• Synonyms (NCBI Gene): CORD2, CRD, LCA7, OTX3
• Chromosome: 19
• Chromosome location: 19q13.33
• Summary: The protein encoded by this gene is a photoreceptor-specific transcription factor which plays a role in the differentiation of photoreceptor cells. This homeodomain protein is necessary for the maintenance of normal cone and rod function. Mutations in thi

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs61748436	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs61748449	G>-	Not-provided, pathogenic	Coding sequence variant, frameshift variant
rs62654391	G>A	Not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs104894671	A>C	Not-provided, pathogenic	Coding sequence variant, missense variant
rs104894672	C>T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs104894673	C>T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs139340178	C>G	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs281865198	T>C	Likely-pathogenic	Splice donor variant
rs281865515	G>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs281865516	C>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs527236062	G>C	Pathogenic	Coding sequence variant, missense variant
rs527236063	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant, synonymous variant
rs756105390	G>A,C	Likely-pathogenic	Synonymous variant, coding sequence variant, missense variant
rs771450991	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs786205521	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs786205630	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs863224863	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs864309706	C>G	Pathogenic	Coding sequence variant, stop gained
rs864309707	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs864309708	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs869312175	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs878853383	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs886044121	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064796109	GAG>TTA	Likely-pathogenic	Intron variant
rs1064797246	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064797247	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1437021651	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555801777	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555801963	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1555801989	TC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555802058	CTGGACTACA>GATCCC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1568626209	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1568626289	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1599991268	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1599991538	GT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1599991611	CA>-	Pathogenic	Stop gained, coding sequence variant
rs1599992622	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1599992745	T>C	Likely-pathogenic	Terminator codon variant, stop lost

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT672521	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT672520	hsa-miR-6499-5p	HITS-CLIP	23824327
MIRT672519	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT672518	hsa-miR-6781-5p	HITS-CLIP	23824327
MIRT672517	hsa-miR-3178	HITS-CLIP	23824327
MIRT672521	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT672520	hsa-miR-6499-5p	HITS-CLIP	23824327
MIRT672519	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT672518	hsa-miR-6781-5p	HITS-CLIP	23824327
MIRT672517	hsa-miR-3178	HITS-CLIP	23824327
MIRT910968	hsa-let-7a	CLIP-seq
MIRT910969	hsa-let-7b	CLIP-seq
MIRT910970	hsa-let-7c	CLIP-seq
MIRT910971	hsa-let-7d	CLIP-seq
MIRT910972	hsa-let-7e	CLIP-seq
MIRT910973	hsa-let-7f	CLIP-seq
MIRT910974	hsa-let-7g	CLIP-seq
MIRT910975	hsa-let-7i	CLIP-seq
MIRT910976	hsa-miR-10a	CLIP-seq
MIRT910977	hsa-miR-10b	CLIP-seq
MIRT910978	hsa-miR-1228	CLIP-seq
MIRT910979	hsa-miR-1236	CLIP-seq
MIRT910980	hsa-miR-1258	CLIP-seq
MIRT910981	hsa-miR-125a-3p	CLIP-seq
MIRT910982	hsa-miR-1266	CLIP-seq
MIRT910983	hsa-miR-147	CLIP-seq
MIRT910984	hsa-miR-1827	CLIP-seq
MIRT910985	hsa-miR-186	CLIP-seq
MIRT910986	hsa-miR-197	CLIP-seq
MIRT910987	hsa-miR-199a-5p	CLIP-seq
MIRT910988	hsa-miR-199b-5p	CLIP-seq
MIRT910989	hsa-miR-2110	CLIP-seq
MIRT910990	hsa-miR-24	CLIP-seq
MIRT910991	hsa-miR-296-3p	CLIP-seq
MIRT910992	hsa-miR-3122	CLIP-seq
MIRT910993	hsa-miR-3133	CLIP-seq
MIRT910994	hsa-miR-3146	CLIP-seq
MIRT910995	hsa-miR-3151	CLIP-seq
MIRT910996	hsa-miR-3152-3p	CLIP-seq
MIRT910997	hsa-miR-3160-3p	CLIP-seq
MIRT910998	hsa-miR-3160-5p	CLIP-seq
MIRT910999	hsa-miR-3180-5p	CLIP-seq
MIRT911000	hsa-miR-3187-3p	CLIP-seq
MIRT911001	hsa-miR-329	CLIP-seq
MIRT911002	hsa-miR-337-3p	CLIP-seq
MIRT911003	hsa-miR-339-5p	CLIP-seq
MIRT911004	hsa-miR-3614-5p	CLIP-seq
MIRT911005	hsa-miR-362-3p	CLIP-seq
MIRT911006	hsa-miR-3663-5p	CLIP-seq
MIRT911007	hsa-miR-3664-3p	CLIP-seq
MIRT911008	hsa-miR-3679-3p	CLIP-seq
MIRT911009	hsa-miR-3689a-3p	CLIP-seq
MIRT911010	hsa-miR-3689c	CLIP-seq
MIRT911011	hsa-miR-3689d	CLIP-seq
MIRT911012	hsa-miR-3911	CLIP-seq
MIRT911013	hsa-miR-3913-5p	CLIP-seq
MIRT911014	hsa-miR-3926	CLIP-seq
MIRT911015	hsa-miR-3927	CLIP-seq
MIRT911016	hsa-miR-3929	CLIP-seq
MIRT911017	hsa-miR-3934	CLIP-seq
MIRT911018	hsa-miR-3937	CLIP-seq
MIRT911019	hsa-miR-3941	CLIP-seq
MIRT911020	hsa-miR-411	CLIP-seq
MIRT911021	hsa-miR-4271	CLIP-seq
MIRT911022	hsa-miR-4276	CLIP-seq
MIRT911023	hsa-miR-4284	CLIP-seq
MIRT911024	hsa-miR-4302	CLIP-seq
MIRT911025	hsa-miR-4419b	CLIP-seq
MIRT911026	hsa-miR-4421	CLIP-seq
MIRT911027	hsa-miR-4433	CLIP-seq
MIRT911028	hsa-miR-4435	CLIP-seq
MIRT911029	hsa-miR-4447	CLIP-seq
MIRT911030	hsa-miR-4459	CLIP-seq
MIRT911031	hsa-miR-4472	CLIP-seq
MIRT911032	hsa-miR-4478	CLIP-seq
MIRT911033	hsa-miR-4487	CLIP-seq
MIRT911034	hsa-miR-4518	CLIP-seq
MIRT911035	hsa-miR-4649-3p	CLIP-seq
MIRT911036	hsa-miR-4683	CLIP-seq
MIRT911037	hsa-miR-4684-5p	CLIP-seq
MIRT911038	hsa-miR-4694-5p	CLIP-seq
MIRT911039	hsa-miR-4697-3p	CLIP-seq
MIRT911040	hsa-miR-4701-5p	CLIP-seq
MIRT911041	hsa-miR-4716-5p	CLIP-seq
MIRT911042	hsa-miR-4722-5p	CLIP-seq
MIRT911043	hsa-miR-4725-3p	CLIP-seq
MIRT911044	hsa-miR-4728-5p	CLIP-seq
MIRT911045	hsa-miR-4744	CLIP-seq
MIRT911046	hsa-miR-4755-3p	CLIP-seq
MIRT911047	hsa-miR-4762-5p	CLIP-seq
MIRT911048	hsa-miR-4767	CLIP-seq
MIRT911049	hsa-miR-4768-3p	CLIP-seq
MIRT911050	hsa-miR-4781-3p	CLIP-seq
MIRT911051	hsa-miR-4786-5p	CLIP-seq
MIRT911052	hsa-miR-4793-3p	CLIP-seq
MIRT911053	hsa-miR-4793-5p	CLIP-seq
MIRT911054	hsa-miR-4794	CLIP-seq
MIRT911055	hsa-miR-4795-3p	CLIP-seq
MIRT911056	hsa-miR-485-5p	CLIP-seq
MIRT911057	hsa-miR-491-5p	CLIP-seq
MIRT911058	hsa-miR-500a	CLIP-seq
MIRT911059	hsa-miR-507	CLIP-seq
MIRT911060	hsa-miR-508-5p	CLIP-seq
MIRT911061	hsa-miR-5096	CLIP-seq
MIRT911062	hsa-miR-520a-5p	CLIP-seq
MIRT911063	hsa-miR-525-5p	CLIP-seq
MIRT911064	hsa-miR-548aa	CLIP-seq
MIRT911065	hsa-miR-548s	CLIP-seq
MIRT911066	hsa-miR-557	CLIP-seq
MIRT911067	hsa-miR-558	CLIP-seq
MIRT911068	hsa-miR-588	CLIP-seq
MIRT911069	hsa-miR-593	CLIP-seq
MIRT911070	hsa-miR-603	CLIP-seq
MIRT911071	hsa-miR-640	CLIP-seq
MIRT911072	hsa-miR-644	CLIP-seq
MIRT911073	hsa-miR-764	CLIP-seq
MIRT911074	hsa-miR-766	CLIP-seq
MIRT911075	hsa-miR-873	CLIP-seq
MIRT911076	hsa-miR-940	CLIP-seq
MIRT911077	hsa-miR-98	CLIP-seq
MIRT910981	hsa-miR-125a-3p	CLIP-seq
MIRT910986	hsa-miR-197	CLIP-seq
MIRT911000	hsa-miR-3187-3p	CLIP-seq
MIRT911006	hsa-miR-3663-5p	CLIP-seq
MIRT911017	hsa-miR-3934	CLIP-seq
MIRT911020	hsa-miR-411	CLIP-seq
MIRT911028	hsa-miR-4435	CLIP-seq
MIRT911040	hsa-miR-4701-5p	CLIP-seq
MIRT911041	hsa-miR-4716-5p	CLIP-seq
MIRT911046	hsa-miR-4755-3p	CLIP-seq
MIRT911050	hsa-miR-4781-3p	CLIP-seq
MIRT911061	hsa-miR-5096	CLIP-seq
MIRT911065	hsa-miR-548s	CLIP-seq
MIRT911068	hsa-miR-588	CLIP-seq
MIRT911071	hsa-miR-640	CLIP-seq
MIRT911073	hsa-miR-764	CLIP-seq
MIRT910981	hsa-miR-125a-3p	CLIP-seq
MIRT910986	hsa-miR-197	CLIP-seq
MIRT911000	hsa-miR-3187-3p	CLIP-seq
MIRT911006	hsa-miR-3663-5p	CLIP-seq
MIRT911017	hsa-miR-3934	CLIP-seq
MIRT911020	hsa-miR-411	CLIP-seq
MIRT911028	hsa-miR-4435	CLIP-seq
MIRT911040	hsa-miR-4701-5p	CLIP-seq
MIRT911041	hsa-miR-4716-5p	CLIP-seq
MIRT911046	hsa-miR-4755-3p	CLIP-seq
MIRT911050	hsa-miR-4781-3p	CLIP-seq
MIRT911061	hsa-miR-5096	CLIP-seq
MIRT911065	hsa-miR-548s	CLIP-seq
MIRT911068	hsa-miR-588	CLIP-seq
MIRT911071	hsa-miR-640	CLIP-seq
MIRT911073	hsa-miR-764	CLIP-seq
MIRT910981	hsa-miR-125a-3p	CLIP-seq
MIRT910986	hsa-miR-197	CLIP-seq
MIRT911000	hsa-miR-3187-3p	CLIP-seq
MIRT911006	hsa-miR-3663-5p	CLIP-seq
MIRT911017	hsa-miR-3934	CLIP-seq
MIRT911028	hsa-miR-4435	CLIP-seq
MIRT911040	hsa-miR-4701-5p	CLIP-seq
MIRT911041	hsa-miR-4716-5p	CLIP-seq
MIRT911046	hsa-miR-4755-3p	CLIP-seq
MIRT911050	hsa-miR-4781-3p	CLIP-seq
MIRT911061	hsa-miR-5096	CLIP-seq
MIRT911065	hsa-miR-548s	CLIP-seq
MIRT911068	hsa-miR-588	CLIP-seq
MIRT911071	hsa-miR-640	CLIP-seq
MIRT911073	hsa-miR-764	CLIP-seq
MIRT910968	hsa-let-7a	CLIP-seq
MIRT910969	hsa-let-7b	CLIP-seq
MIRT910970	hsa-let-7c	CLIP-seq
MIRT910971	hsa-let-7d	CLIP-seq
MIRT910972	hsa-let-7e	CLIP-seq
MIRT910973	hsa-let-7f	CLIP-seq
MIRT910974	hsa-let-7g	CLIP-seq
MIRT910975	hsa-let-7i	CLIP-seq
MIRT1970076	hsa-miR-106a	CLIP-seq
MIRT1970077	hsa-miR-106b	CLIP-seq
MIRT910976	hsa-miR-10a	CLIP-seq
MIRT910977	hsa-miR-10b	CLIP-seq
MIRT1970078	hsa-miR-1227	CLIP-seq
MIRT1970079	hsa-miR-1234	CLIP-seq
MIRT910979	hsa-miR-1236	CLIP-seq
MIRT910980	hsa-miR-1258	CLIP-seq
MIRT910981	hsa-miR-125a-3p	CLIP-seq
MIRT1970080	hsa-miR-1281	CLIP-seq
MIRT1970081	hsa-miR-150	CLIP-seq
MIRT1970082	hsa-miR-17	CLIP-seq
MIRT910984	hsa-miR-1827	CLIP-seq
MIRT1970083	hsa-miR-1915	CLIP-seq
MIRT910986	hsa-miR-197	CLIP-seq
MIRT910987	hsa-miR-199a-5p	CLIP-seq
MIRT910988	hsa-miR-199b-5p	CLIP-seq
MIRT1970084	hsa-miR-20a	CLIP-seq
MIRT1970085	hsa-miR-20b	CLIP-seq
MIRT1970086	hsa-miR-2114	CLIP-seq
MIRT910990	hsa-miR-24	CLIP-seq
MIRT910991	hsa-miR-296-3p	CLIP-seq
MIRT1970087	hsa-miR-302a	CLIP-seq
MIRT1970088	hsa-miR-302b	CLIP-seq
MIRT1970089	hsa-miR-302c	CLIP-seq
MIRT1970090	hsa-miR-302d	CLIP-seq
MIRT1970091	hsa-miR-302e	CLIP-seq
MIRT910992	hsa-miR-3122	CLIP-seq
MIRT1970092	hsa-miR-3137	CLIP-seq
MIRT910996	hsa-miR-3152-3p	CLIP-seq
MIRT911000	hsa-miR-3187-3p	CLIP-seq
MIRT1970093	hsa-miR-338-3p	CLIP-seq
MIRT911003	hsa-miR-339-5p	CLIP-seq
MIRT911006	hsa-miR-3663-5p	CLIP-seq
MIRT911009	hsa-miR-3689a-3p	CLIP-seq
MIRT911010	hsa-miR-3689c	CLIP-seq
MIRT1970094	hsa-miR-372	CLIP-seq
MIRT1970095	hsa-miR-373	CLIP-seq
MIRT911013	hsa-miR-3913-5p	CLIP-seq
MIRT911015	hsa-miR-3927	CLIP-seq
MIRT911016	hsa-miR-3929	CLIP-seq
MIRT911017	hsa-miR-3934	CLIP-seq
MIRT1970096	hsa-miR-3945	CLIP-seq
MIRT1970097	hsa-miR-4253	CLIP-seq
MIRT911023	hsa-miR-4284	CLIP-seq
MIRT1970098	hsa-miR-432	CLIP-seq
MIRT911025	hsa-miR-4419b	CLIP-seq
MIRT911026	hsa-miR-4421	CLIP-seq
MIRT911027	hsa-miR-4433	CLIP-seq
MIRT911028	hsa-miR-4435	CLIP-seq
MIRT1970099	hsa-miR-4438	CLIP-seq
MIRT911030	hsa-miR-4459	CLIP-seq
MIRT911032	hsa-miR-4478	CLIP-seq
MIRT1970100	hsa-miR-4530	CLIP-seq
MIRT1970101	hsa-miR-4532	CLIP-seq
MIRT911035	hsa-miR-4649-3p	CLIP-seq
MIRT911036	hsa-miR-4683	CLIP-seq
MIRT911037	hsa-miR-4684-5p	CLIP-seq
MIRT1970102	hsa-miR-4685-5p	CLIP-seq
MIRT911038	hsa-miR-4694-5p	CLIP-seq
MIRT911040	hsa-miR-4701-5p	CLIP-seq
MIRT1970103	hsa-miR-4715-3p	CLIP-seq
MIRT911041	hsa-miR-4716-5p	CLIP-seq
MIRT911042	hsa-miR-4722-5p	CLIP-seq
MIRT911044	hsa-miR-4728-5p	CLIP-seq
MIRT911046	hsa-miR-4755-3p	CLIP-seq
MIRT911048	hsa-miR-4767	CLIP-seq
MIRT911049	hsa-miR-4768-3p	CLIP-seq
MIRT911050	hsa-miR-4781-3p	CLIP-seq
MIRT911051	hsa-miR-4786-5p	CLIP-seq
MIRT911053	hsa-miR-4793-5p	CLIP-seq
MIRT911054	hsa-miR-4794	CLIP-seq
MIRT911058	hsa-miR-500a	CLIP-seq
MIRT911059	hsa-miR-507	CLIP-seq
MIRT1970104	hsa-miR-5095	CLIP-seq
MIRT911061	hsa-miR-5096	CLIP-seq
MIRT1970105	hsa-miR-512-3p	CLIP-seq
MIRT1970106	hsa-miR-519d	CLIP-seq
MIRT1970107	hsa-miR-520a-3p	CLIP-seq
MIRT1970108	hsa-miR-520b	CLIP-seq
MIRT1970109	hsa-miR-520c-3p	CLIP-seq
MIRT1970110	hsa-miR-520d-3p	CLIP-seq
MIRT1970111	hsa-miR-520e	CLIP-seq
MIRT1970112	hsa-miR-520g	CLIP-seq
MIRT1970113	hsa-miR-520h	CLIP-seq
MIRT1970114	hsa-miR-541	CLIP-seq
MIRT911064	hsa-miR-548aa	CLIP-seq
MIRT911065	hsa-miR-548s	CLIP-seq
MIRT911066	hsa-miR-557	CLIP-seq
MIRT911068	hsa-miR-588	CLIP-seq
MIRT911069	hsa-miR-593	CLIP-seq
MIRT911071	hsa-miR-640	CLIP-seq
MIRT1970115	hsa-miR-654-5p	CLIP-seq
MIRT911073	hsa-miR-764	CLIP-seq
MIRT1970116	hsa-miR-93	CLIP-seq
MIRT911076	hsa-miR-940	CLIP-seq
MIRT911077	hsa-miR-98	CLIP-seq
MIRT910968	hsa-let-7a	CLIP-seq
MIRT910969	hsa-let-7b	CLIP-seq
MIRT910970	hsa-let-7c	CLIP-seq
MIRT910971	hsa-let-7d	CLIP-seq
MIRT910972	hsa-let-7e	CLIP-seq
MIRT910973	hsa-let-7f	CLIP-seq
MIRT910974	hsa-let-7g	CLIP-seq
MIRT910975	hsa-let-7i	CLIP-seq
MIRT2206043	hsa-miR-1	CLIP-seq
MIRT1970076	hsa-miR-106a	CLIP-seq
MIRT1970077	hsa-miR-106b	CLIP-seq
MIRT1970078	hsa-miR-1227	CLIP-seq
MIRT1970079	hsa-miR-1234	CLIP-seq
MIRT910980	hsa-miR-1258	CLIP-seq
MIRT910981	hsa-miR-125a-3p	CLIP-seq
MIRT2206044	hsa-miR-1470	CLIP-seq
MIRT1970081	hsa-miR-150	CLIP-seq
MIRT1970082	hsa-miR-17	CLIP-seq
MIRT910984	hsa-miR-1827	CLIP-seq
MIRT2206045	hsa-miR-1910	CLIP-seq
MIRT2206046	hsa-miR-205	CLIP-seq
MIRT2206047	hsa-miR-206	CLIP-seq
MIRT1970084	hsa-miR-20a	CLIP-seq
MIRT1970085	hsa-miR-20b	CLIP-seq
MIRT1970086	hsa-miR-2114	CLIP-seq
MIRT910990	hsa-miR-24	CLIP-seq
MIRT910991	hsa-miR-296-3p	CLIP-seq
MIRT2206048	hsa-miR-297	CLIP-seq
MIRT1970087	hsa-miR-302a	CLIP-seq
MIRT1970088	hsa-miR-302b	CLIP-seq
MIRT1970089	hsa-miR-302c	CLIP-seq
MIRT1970090	hsa-miR-302d	CLIP-seq
MIRT1970091	hsa-miR-302e	CLIP-seq
MIRT910992	hsa-miR-3122	CLIP-seq
MIRT1970092	hsa-miR-3137	CLIP-seq
MIRT910996	hsa-miR-3152-3p	CLIP-seq
MIRT910997	hsa-miR-3160-3p	CLIP-seq
MIRT910999	hsa-miR-3180-5p	CLIP-seq
MIRT911004	hsa-miR-3614-5p	CLIP-seq
MIRT911009	hsa-miR-3689a-3p	CLIP-seq
MIRT911010	hsa-miR-3689c	CLIP-seq
MIRT1970094	hsa-miR-372	CLIP-seq
MIRT1970095	hsa-miR-373	CLIP-seq
MIRT911013	hsa-miR-3913-5p	CLIP-seq
MIRT911014	hsa-miR-3926	CLIP-seq
MIRT911015	hsa-miR-3927	CLIP-seq
MIRT911017	hsa-miR-3934	CLIP-seq
MIRT911018	hsa-miR-3937	CLIP-seq
MIRT1970096	hsa-miR-3945	CLIP-seq
MIRT1970097	hsa-miR-4253	CLIP-seq
MIRT911023	hsa-miR-4284	CLIP-seq
MIRT2206049	hsa-miR-4307	CLIP-seq
MIRT911027	hsa-miR-4433	CLIP-seq
MIRT1970099	hsa-miR-4438	CLIP-seq
MIRT911030	hsa-miR-4459	CLIP-seq
MIRT911033	hsa-miR-4487	CLIP-seq
MIRT2206050	hsa-miR-4667-3p	CLIP-seq
MIRT911036	hsa-miR-4683	CLIP-seq
MIRT911038	hsa-miR-4694-5p	CLIP-seq
MIRT1970103	hsa-miR-4715-3p	CLIP-seq
MIRT911044	hsa-miR-4728-5p	CLIP-seq
MIRT2206051	hsa-miR-4735-5p	CLIP-seq
MIRT2206052	hsa-miR-4740-3p	CLIP-seq
MIRT911048	hsa-miR-4767	CLIP-seq
MIRT911049	hsa-miR-4768-3p	CLIP-seq
MIRT2206053	hsa-miR-4775	CLIP-seq
MIRT911051	hsa-miR-4786-5p	CLIP-seq
MIRT911055	hsa-miR-4795-3p	CLIP-seq
MIRT911058	hsa-miR-500a	CLIP-seq
MIRT1970104	hsa-miR-5095	CLIP-seq
MIRT1970106	hsa-miR-519d	CLIP-seq
MIRT1970107	hsa-miR-520a-3p	CLIP-seq
MIRT911062	hsa-miR-520a-5p	CLIP-seq
MIRT1970108	hsa-miR-520b	CLIP-seq
MIRT1970109	hsa-miR-520c-3p	CLIP-seq
MIRT1970110	hsa-miR-520d-3p	CLIP-seq
MIRT1970111	hsa-miR-520e	CLIP-seq
MIRT1970112	hsa-miR-520g	CLIP-seq
MIRT1970113	hsa-miR-520h	CLIP-seq
MIRT911063	hsa-miR-525-5p	CLIP-seq
MIRT1970114	hsa-miR-541	CLIP-seq
MIRT911065	hsa-miR-548s	CLIP-seq
MIRT911067	hsa-miR-558	CLIP-seq
MIRT2206054	hsa-miR-567	CLIP-seq
MIRT2206055	hsa-miR-590-3p	CLIP-seq
MIRT2206056	hsa-miR-613	CLIP-seq
MIRT911071	hsa-miR-640	CLIP-seq
MIRT1970115	hsa-miR-654-5p	CLIP-seq
MIRT911073	hsa-miR-764	CLIP-seq
MIRT1970116	hsa-miR-93	CLIP-seq
MIRT911076	hsa-miR-940	CLIP-seq
MIRT911077	hsa-miR-98	CLIP-seq
MIRT2386485	hsa-miR-1972	CLIP-seq
MIRT1970086	hsa-miR-2114	CLIP-seq
MIRT1970092	hsa-miR-3137	CLIP-seq
MIRT1970093	hsa-miR-338-3p	CLIP-seq
MIRT1970096	hsa-miR-3945	CLIP-seq
MIRT1970097	hsa-miR-4253	CLIP-seq
MIRT2386486	hsa-miR-4650-5p	CLIP-seq
MIRT2386487	hsa-miR-4712-3p	CLIP-seq
MIRT2386488	hsa-miR-510	CLIP-seq
MIRT910976	hsa-miR-10a	CLIP-seq
MIRT910977	hsa-miR-10b	CLIP-seq
MIRT1970080	hsa-miR-1281	CLIP-seq
MIRT910984	hsa-miR-1827	CLIP-seq
MIRT2447693	hsa-miR-2861	CLIP-seq
MIRT910992	hsa-miR-3122	CLIP-seq
MIRT1970093	hsa-miR-338-3p	CLIP-seq
MIRT911003	hsa-miR-339-5p	CLIP-seq
MIRT2447694	hsa-miR-3613-3p	CLIP-seq
MIRT911004	hsa-miR-3614-5p	CLIP-seq
MIRT911009	hsa-miR-3689a-3p	CLIP-seq
MIRT911010	hsa-miR-3689c	CLIP-seq
MIRT911013	hsa-miR-3913-5p	CLIP-seq
MIRT911014	hsa-miR-3926	CLIP-seq
MIRT911018	hsa-miR-3937	CLIP-seq
MIRT911026	hsa-miR-4421	CLIP-seq
MIRT1970100	hsa-miR-4530	CLIP-seq
MIRT1970101	hsa-miR-4532	CLIP-seq
MIRT911037	hsa-miR-4684-5p	CLIP-seq
MIRT2447695	hsa-miR-4714-3p	CLIP-seq
MIRT911044	hsa-miR-4728-5p	CLIP-seq
MIRT911048	hsa-miR-4767	CLIP-seq
MIRT911058	hsa-miR-500a	CLIP-seq
MIRT911064	hsa-miR-548aa	CLIP-seq
MIRT2447696	hsa-miR-548c-3p	CLIP-seq
MIRT911065	hsa-miR-548s	CLIP-seq
MIRT911069	hsa-miR-593	CLIP-seq
MIRT911076	hsa-miR-940	CLIP-seq
MIRT2465122	hsa-miR-1273f	CLIP-seq
MIRT2465123	hsa-miR-1321	CLIP-seq
MIRT910984	hsa-miR-1827	CLIP-seq
MIRT2465124	hsa-miR-185	CLIP-seq
MIRT1970083	hsa-miR-1915	CLIP-seq
MIRT2447693	hsa-miR-2861	CLIP-seq
MIRT910992	hsa-miR-3122	CLIP-seq
MIRT2447694	hsa-miR-3613-3p	CLIP-seq
MIRT911004	hsa-miR-3614-5p	CLIP-seq
MIRT911009	hsa-miR-3689a-3p	CLIP-seq
MIRT911010	hsa-miR-3689c	CLIP-seq
MIRT911013	hsa-miR-3913-5p	CLIP-seq
MIRT911018	hsa-miR-3937	CLIP-seq
MIRT2465125	hsa-miR-4306	CLIP-seq
MIRT2465126	hsa-miR-4419a	CLIP-seq
MIRT2465127	hsa-miR-4510	CLIP-seq
MIRT2465128	hsa-miR-4534	CLIP-seq
MIRT2465129	hsa-miR-4644	CLIP-seq
MIRT911037	hsa-miR-4684-5p	CLIP-seq
MIRT2465130	hsa-miR-4726-3p	CLIP-seq
MIRT911044	hsa-miR-4728-5p	CLIP-seq
MIRT2465131	hsa-miR-4739	CLIP-seq
MIRT2465132	hsa-miR-4747-3p	CLIP-seq
MIRT2465133	hsa-miR-4756-5p	CLIP-seq
MIRT911049	hsa-miR-4768-3p	CLIP-seq
MIRT2447696	hsa-miR-548c-3p	CLIP-seq
MIRT2465134	hsa-miR-665	CLIP-seq
MIRT2465135	hsa-miR-765	CLIP-seq
MIRT911076	hsa-miR-940	CLIP-seq
MIRT910976	hsa-miR-10a	CLIP-seq
MIRT910977	hsa-miR-10b	CLIP-seq
MIRT1970079	hsa-miR-1234	CLIP-seq
MIRT910981	hsa-miR-125a-3p	CLIP-seq
MIRT2509209	hsa-miR-1273	CLIP-seq
MIRT1970080	hsa-miR-1281	CLIP-seq
MIRT2509210	hsa-miR-151-3p	CLIP-seq
MIRT910984	hsa-miR-1827	CLIP-seq
MIRT2509211	hsa-miR-1976	CLIP-seq
MIRT2447693	hsa-miR-2861	CLIP-seq
MIRT910992	hsa-miR-3122	CLIP-seq
MIRT2509212	hsa-miR-323-5p	CLIP-seq
MIRT1970093	hsa-miR-338-3p	CLIP-seq
MIRT911003	hsa-miR-339-5p	CLIP-seq
MIRT2447694	hsa-miR-3613-3p	CLIP-seq
MIRT911004	hsa-miR-3614-5p	CLIP-seq
MIRT911009	hsa-miR-3689a-3p	CLIP-seq
MIRT911010	hsa-miR-3689c	CLIP-seq
MIRT911013	hsa-miR-3913-5p	CLIP-seq
MIRT911014	hsa-miR-3926	CLIP-seq
MIRT911017	hsa-miR-3934	CLIP-seq
MIRT911018	hsa-miR-3937	CLIP-seq
MIRT2509213	hsa-miR-4252	CLIP-seq
MIRT2509214	hsa-miR-4279	CLIP-seq
MIRT911026	hsa-miR-4421	CLIP-seq
MIRT911027	hsa-miR-4433	CLIP-seq
MIRT2509215	hsa-miR-4456	CLIP-seq
MIRT911030	hsa-miR-4459	CLIP-seq
MIRT2509216	hsa-miR-4463	CLIP-seq
MIRT2509217	hsa-miR-4486	CLIP-seq
MIRT2509218	hsa-miR-4499	CLIP-seq
MIRT1970100	hsa-miR-4530	CLIP-seq
MIRT1970101	hsa-miR-4532	CLIP-seq
MIRT2509219	hsa-miR-4649-5p	CLIP-seq
MIRT911036	hsa-miR-4683	CLIP-seq
MIRT911037	hsa-miR-4684-5p	CLIP-seq
MIRT2447695	hsa-miR-4714-3p	CLIP-seq
MIRT2509220	hsa-miR-4722-3p	CLIP-seq
MIRT911044	hsa-miR-4728-5p	CLIP-seq
MIRT2206052	hsa-miR-4740-3p	CLIP-seq
MIRT911048	hsa-miR-4767	CLIP-seq
MIRT911049	hsa-miR-4768-3p	CLIP-seq
MIRT911051	hsa-miR-4786-5p	CLIP-seq
MIRT911052	hsa-miR-4793-3p	CLIP-seq
MIRT911053	hsa-miR-4793-5p	CLIP-seq
MIRT911054	hsa-miR-4794	CLIP-seq
MIRT911058	hsa-miR-500a	CLIP-seq
MIRT911060	hsa-miR-508-5p	CLIP-seq
MIRT911064	hsa-miR-548aa	CLIP-seq
MIRT2447696	hsa-miR-548c-3p	CLIP-seq
MIRT911065	hsa-miR-548s	CLIP-seq
MIRT911069	hsa-miR-593	CLIP-seq
MIRT911071	hsa-miR-640	CLIP-seq
MIRT2509221	hsa-miR-661	CLIP-seq
MIRT911073	hsa-miR-764	CLIP-seq
MIRT911074	hsa-miR-766	CLIP-seq
MIRT2509222	hsa-miR-876-3p	CLIP-seq
MIRT911076	hsa-miR-940	CLIP-seq
MIRT910976	hsa-miR-10a	CLIP-seq
MIRT910977	hsa-miR-10b	CLIP-seq
MIRT1970078	hsa-miR-1227	CLIP-seq
MIRT1970080	hsa-miR-1281	CLIP-seq
MIRT910984	hsa-miR-1827	CLIP-seq
MIRT2509211	hsa-miR-1976	CLIP-seq
MIRT1970086	hsa-miR-2114	CLIP-seq
MIRT2447693	hsa-miR-2861	CLIP-seq
MIRT910992	hsa-miR-3122	CLIP-seq
MIRT1970092	hsa-miR-3137	CLIP-seq
MIRT1970093	hsa-miR-338-3p	CLIP-seq
MIRT911003	hsa-miR-339-5p	CLIP-seq
MIRT2447694	hsa-miR-3613-3p	CLIP-seq
MIRT911004	hsa-miR-3614-5p	CLIP-seq
MIRT911009	hsa-miR-3689a-3p	CLIP-seq
MIRT911010	hsa-miR-3689c	CLIP-seq
MIRT911013	hsa-miR-3913-5p	CLIP-seq
MIRT911014	hsa-miR-3926	CLIP-seq
MIRT911018	hsa-miR-3937	CLIP-seq
MIRT1970096	hsa-miR-3945	CLIP-seq
MIRT1970097	hsa-miR-4253	CLIP-seq
MIRT2509214	hsa-miR-4279	CLIP-seq
MIRT911026	hsa-miR-4421	CLIP-seq
MIRT911027	hsa-miR-4433	CLIP-seq
MIRT911030	hsa-miR-4459	CLIP-seq
MIRT1970100	hsa-miR-4530	CLIP-seq
MIRT1970101	hsa-miR-4532	CLIP-seq
MIRT911036	hsa-miR-4683	CLIP-seq
MIRT911037	hsa-miR-4684-5p	CLIP-seq
MIRT2447695	hsa-miR-4714-3p	CLIP-seq
MIRT1970103	hsa-miR-4715-3p	CLIP-seq
MIRT2509220	hsa-miR-4722-3p	CLIP-seq
MIRT911044	hsa-miR-4728-5p	CLIP-seq
MIRT2206051	hsa-miR-4735-5p	CLIP-seq
MIRT911048	hsa-miR-4767	CLIP-seq
MIRT911049	hsa-miR-4768-3p	CLIP-seq
MIRT2206053	hsa-miR-4775	CLIP-seq
MIRT911051	hsa-miR-4786-5p	CLIP-seq
MIRT911052	hsa-miR-4793-3p	CLIP-seq
MIRT911053	hsa-miR-4793-5p	CLIP-seq
MIRT911054	hsa-miR-4794	CLIP-seq
MIRT911058	hsa-miR-500a	CLIP-seq
MIRT911060	hsa-miR-508-5p	CLIP-seq
MIRT1970114	hsa-miR-541	CLIP-seq
MIRT911064	hsa-miR-548aa	CLIP-seq
MIRT2447696	hsa-miR-548c-3p	CLIP-seq
MIRT911065	hsa-miR-548s	CLIP-seq
MIRT2206055	hsa-miR-590-3p	CLIP-seq
MIRT911069	hsa-miR-593	CLIP-seq
MIRT1970115	hsa-miR-654-5p	CLIP-seq
MIRT911074	hsa-miR-766	CLIP-seq
MIRT911076	hsa-miR-940	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
TFAP2A	Unknown	12408971

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000785	Component	Chromatin	ISS
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	ISS
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	10625658
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001216	Function	DNA-binding transcription activator activity	ISS
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	10625658
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	ISS
GO:0003700	Function	DNA-binding transcription factor activity	NAS	9390563
GO:0005515	Function	Protein binding	IPI	16189514, 22458338, 24722188, 25416956, 25910212, 26871637, 29892012, 31515488, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005667	Component	Transcription regulator complex	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	ISS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007399	Process	Nervous system development	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	TAS	9390563
GO:0009887	Process	Animal organ morphogenesis	TAS	9390563
GO:0016922	Function	Nuclear receptor binding	IEA
GO:0016922	Function	Nuclear receptor binding	ISS
GO:0030154	Process	Cell differentiation	IEA
GO:0043522	Function	Leucine zipper domain binding	IPI	10887186
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	10625658
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	ISS
GO:0090575	Component	RNA polymerase II transcription regulator complex	ISS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 602225
• HGNC: 2383
• e!Ensembl: ENSG00000105392

Protein

• UniProt ID: O43186
• Protein name: Cone-rod homeobox protein
• Protein function: Transcription factor that binds and transactivates the sequence 5'-TAATC[CA]-3' which is found upstream of several photoreceptor-specific genes, including the opsin genes. Acts synergistically with other transcription factors, such as NRL, RORB
• PDB: 9B8U
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00046	Homeodomain	40 → 96	Homeodomain	Domain
  PF03529	TF_Otx	139 → 249	Otx1 transcription factor	Family

• Tissue specificity: TISSUE SPECIFICITY: Retina.
• Sequence:

  MMAYMNPGPHYSVNALALSGPSVDLMHQAVPYPSAPRKQRRERTTFTRSQLEELEALFAK
  TQYPDVYAREEVALKINLPESRVQVWFKNRRAKCRQQRQQQKQQQQPPGGQAKARPAKRK
  AGTSPRPSTDVCPDPLGISDSYSPPLPGPSGSPTTAVATVSIWSPASESPLPEAQRAGLV
  ASGPSLTSAPYAMTYAPASAFCSSPSAYGSPSSYFSGLDPYLSPMVPQLGGPALSPLSGP
  SVGPSLAQSPTSLSGQSYGAYSPVDSLEFKDPTGTWKFTYNPMDPLDYKDQSAWKFQIL

• Sequence length: 299

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
Autosomal dominant retinitis pigmentosa	Likely pathogenic	rs786205630	RCV001257855	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Benign concentric annular macular dystrophy	Likely pathogenic; Pathogenic	rs864309706, rs864309707, rs864309708	RCV000203264 RCV000203269 RCV000203272	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone-rod dystrophy	Likely pathogenic; Pathogenic	rs104894672, rs61748436, rs1437021651	RCV003324484 RCV005417420 RCV000787585	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone-rod dystrophy 2	Pathogenic; Likely pathogenic	rs864309707, rs1968162287, rs1968164899, rs1968169272, rs2123738324, rs61748437, rs62654391, rs61748444, rs61748452, rs281865516, rs61749660, rs1968168564, rs1599991268, rs2123743175, rs2123743110, rs2123743395, rs767273026, rs2123739840, rs2123739871, rs2123743359, rs1968163226, rs2123743155, rs2123739943, rs2123742895, rs2123743184, rs2123743577, rs2123743235, rs2123743320, rs2123743219, rs1064797247, rs2514256211, rs2514252125, rs2514256327, rs2514256605, rs2514256246, rs281865198, rs864309706, rs864309708, rs2514256097, rs104894671, rs1568626209, rs104894672, rs61748436, rs104894673, rs2123743692, rs878853383, rs2514256563, rs1968167603, rs2514256545, rs2514252240, rs764877352, rs1968167254, rs2514256113, rs2514256232, rs1064796109, rs1064797246, rs771450991, rs771551785, rs1437021651, rs61748449, rs1599991611, rs749738655, rs1968169319, rs1968173024, rs1968115710, rs1968165008, rs1968165080, rs1968169004, rs775073228, rs1968116898, rs1968160841, rs1968164438, rs771736389, rs1968165217, rs1968166909, rs1968167093, rs751018117, rs1968169100, rs1968172289	RCV001312312 RCV001338120 RCV001341159 RCV001347754 RCV001365217 RCV001369855 RCV001854500 RCV001247677 RCV001857422 RCV000007849 RCV001307244 RCV001544506 RCV001924970 RCV001966147 RCV001924859 RCV001991880 RCV001985814 RCV001972914 RCV001881843 RCV002013147 RCV001927127 RCV001974438 RCV001926782 RCV001864367 RCV001864785 RCV001940419 RCV003094022 RCV002249842 RCV002251170 RCV003061635 RCV002812113 RCV002839076 RCV002835327 RCV002885281 RCV002962432 RCV003008305 RCV001208760 RCV002517362 RCV001361118 RCV003038465 RCV000007841 RCV000007842 RCV000007843 RCV000007846 RCV001244346 RCV000007850 RCV001036303 RCV003785488 RCV003785552 RCV003783737 RCV003781419 RCV003781754 RCV003807962 RCV003805667 RCV003803029 RCV003801046 RCV001054464 RCV001202810 RCV001865500 RCV001857203 RCV002531393 RCV001869190 RCV002515745 RCV001233804 RCV001071559 RCV001040835 RCV001067544 RCV001063855 RCV003769002 RCV001379448 RCV005225220 RCV001238013 RCV001215027 RCV001207853 RCV001211671 RCV001228802 RCV001228949 RCV001879781 RCV002570426 RCV001879957 RCV005253775 RCV001925009 RCV001300693	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CRX-related disorder	Likely pathogenic; Pathogenic	rs61748436, rs2514256689	RCV004755718 RCV003420914	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber congenital amaurosis	Likely pathogenic; Pathogenic	rs869312175, rs1968165374	RCV000210309 RCV001262103	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber congenital amaurosis 1	Likely pathogenic; Pathogenic	rs1599991538, rs1599991611	RCV000990236 RCV000990237	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber congenital amaurosis 7	Pathogenic; Likely pathogenic	rs864309707, rs1968162287, rs1968164899, rs1968169272, rs2123738324, rs61748437, rs62654391, rs61748444, rs61748446, rs281865515, rs61748452, rs281865516, rs281865517, rs61749660, rs2123743284, rs2123743198, rs1599991268, rs2123743175, rs2123743110, rs2123743395, rs767273026, rs2123739840, rs2123739871, rs2123743359, rs1968163226, rs2123743155, rs2123739943, rs2123742895, rs2123743184, rs2123743577, rs2123743235, rs786205630, rs1064797247, rs2514256211, rs2514252125, rs2514256327, rs2514256605, rs2514256246, rs281865198, rs864309706, rs864309708, rs2514256097, rs104894671, rs104894672, rs61748436, rs104894673, rs878853383, rs2514256563, rs1968167603, rs2514256545, rs2514252240, rs764877352, rs1968167254, rs1968168564, rs2514256113, rs2514256232, rs1064796109, rs1064797246, rs771450991, rs771551785, rs1568626289, rs1437021651, rs61748449, rs1599991611, rs749738655, rs1968169319, rs1968173024, rs1968115710, rs1968165008, rs1968165080, rs1968169004, rs775073228, rs1968116898, rs1968160841, rs1968164438, rs771736389, rs1968165217, rs1968117526, rs1968165665, rs1968165787, rs1968166379, rs1968166909, rs1968167093, rs373497612, rs1968173864, rs751018117, rs1968169100, rs1968172289	RCV001312312 RCV001338120 RCV001341159 RCV001347754 RCV001365217 RCV001369855 RCV001854500 RCV001247677 RCV002274927 RCV000007848 RCV001857422 RCV001854501 RCV002274928 RCV001307244 RCV001526718 RCV001542503 RCV001924970 RCV001966147 RCV001924859 RCV001991880 RCV001985814 RCV001972914 RCV001881843 RCV002013147 RCV001927127 RCV001974438 RCV001926782 RCV001864367 RCV001864785 RCV001940419 RCV003094022 RCV001250589 RCV003061635 RCV002812113 RCV002839076 RCV002835327 RCV002885281 RCV002962432 RCV003008305 RCV001208760 RCV002517362 RCV001361118 RCV003038465 RCV001386170 RCV001386169 RCV001059718 RCV000007847 RCV001036303 RCV003785488 RCV003785552 RCV003783737 RCV003781419 RCV003781754 RCV003807962 RCV003805667 RCV003803029 RCV003801046 RCV001054464 RCV001202810 RCV001865500 RCV001857203 RCV002531393 RCV000735752 RCV001869190 RCV000055824 RCV001233804 RCV001071559 RCV001040835 RCV001067544 RCV001063855 RCV003769002 RCV001379448 RCV005225220 RCV001238013 RCV001215027 RCV001207853 RCV001211671 RCV001228802 RCV001228949 RCV001250591 RCV001250659 RCV001250660 RCV001250583 RCV001250584 RCV001250585 RCV001250586 RCV001250587 RCV001250588 RCV001250590 RCV001879957 RCV001925009 RCV001300693	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Macular dystrophy	Likely pathogenic	rs1555801963	RCV000505016	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
maculopathy	Pathogenic	rs62654391	RCV001003002	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs62636512, rs281865516, rs527236062, rs104894672, rs61748436, rs104894673, rs2123743692, rs878853383, rs1481802456, rs1064797247, rs771450991, rs771551785, rs749738655, rs1968169319, rs104894671, rs1968162133, rs1968165008, rs1968165080, rs1968169004, rs1968170098, rs775073228, rs1968115710, rs1968169100	RCV001073568 RCV003888488 RCV003888547 RCV001073396 RCV001075469 RCV001074643 RCV004814856 RCV000225573 RCV003890372 RCV001073867 RCV000504788 RCV001074637 RCV001075179 RCV001073684 RCV001073303 RCV001074883 RCV001075115 RCV001073950 RCV001075865 RCV001074100 RCV004813758 RCV003887977 RCV004815748	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Likely pathogenic; Pathogenic	rs527236062, rs104894672, rs2514256545, rs1555801989, rs771551785, rs749738655, rs751018117	RCV000132604 RCV003324485 RCV005235731 RCV000504684 RCV000678552 RCV005418984 RCV001256189	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Stargardt disease	Likely pathogenic; Pathogenic	rs1599991268, rs1599992622, rs1968169100	RCV000787586 RCV000787588 RCV002466710	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AMAUROSIS CONGENITA OF LEBER, TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Central core myopathy	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE ROD DYSTROPHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophy, Dominant	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINAL DEGENERATION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 91	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa, Dominant	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STARGARDTS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult Medulloblastoma	Medulloblastoma	BEFREE	29533784		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	28945142, 30067412, 31074760		★☆☆☆☆ Found in Text Mining only
Amaurosis congenita of Leber, type 1	Leber congenital amaurosis	BEFREE	10527670, 10581037, 10967037, 11449318, 12208271, 20513135, 22960069, 24001014, 24066033, 24093488, 24516401, 24888636, 29568065, 31247521, 9931337		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amelogenesis Imperfecta	Amelogenesis imperfecta	BEFREE	12461695		★☆☆☆☆ Found in Text Mining only
Blindness	Blindness	Pubtator	11328746, 29568065	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25367122	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	29533784		★☆☆☆☆ Found in Text Mining only
Chorioretinal atrophy	Chorioretinal atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	31348315		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	31377442		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30918959		★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cone rod dystrophy	Cone-rod dystrophy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophies	Cone-rod dystrophy	BEFREE	10916183, 10967037, 11580893, 11748842, 12668763, 12819982, 15531334, 18653602, 19172503, 24001014, 24516401, 24888636, 29184169, 29568065, 30095615, 31743059, 9390563, 9792858		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophies	Cone-rod dystrophy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	10581037, 10916183, 10967037, 11580893, 11748859, 12359607, 12668763, 12819982, 15531334, 17270046, 17320181, 18653602, 19172503, 22960069, 24001014, 24516401, 24888636, 25082885, 29568065, 30078014, 30095615, 31743059, 31743939, 9390563, 9610810, 9792858, 9931337		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cone-Rod Dystrophy 2	Cone-rod dystrophy	UNIPROT_DG	10887186, 9390563, 9427255, 9792858		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cone-Rod Dystrophy 2	Cone-rod dystrophy	ORPHANET_DG	26682157, 26992781		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cone-Rod Dystrophy 2	Cone-rod dystrophy	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cone-Rod Dystrophy 2	Cone-rod dystrophy	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cone-Rod Dystrophy 2	Cone-rod dystrophy	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital Amaurosis of Retinal Origin	Dysgenesis Neuroepithelialis Retinae	CTD_human_DG	9537410, 9931337		★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	29716540, 30064857		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	30918959		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	31012025		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	31626798		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Eye Diseases	Eye disease	Pubtator	31626798	Associate	★☆☆☆☆ Found in Text Mining only
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF	Combined deficiency of factor V and factor VIII	BEFREE	20138881		★☆☆☆☆ Found in Text Mining only
Factor V Deficiency	Factor v deficiency	Pubtator	20138881	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	11748842		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	34653402	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	29716540, 30064857		★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia a	Pubtator	20138881	Associate	★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	15879143		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leber Congenital Amaurosis	Leber Congenital Amaurosis	BEFREE	10532715, 10581037, 10892846, 10967037, 11449318, 11748842, 11748859, 11910559, 12208271, 20513135, 22960069, 24001014, 24516401, 24888636, 29568065, 31247521, 31626798, 9792858, 9931337		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber Congenital Amaurosis	Leber congenital amaurosis	Pubtator	10984472, 11328746, 15024725, 18936139, 19753312, 20513135, 21602930, 24066033, 28966547, 29568065, 31247521, 31626798, 32533067, 33513359, 34653402, 36369640, 37239417, 9792858	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber Congenital Amaurosis	Leber Congenital Amaurosis	ORPHANET_DG	25685757, 9931337		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber Congenital Amaurosis	Leber Congenital Amaurosis	CLINVAR_DG	26872967		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber Congenital Amaurosis	Leber Congenital Amaurosis	CTD_human_DG	9537410, 9931337		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber congenital amaurosis	Leber Congenital Amaurosis	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber Congenital Amaurosis	Leber Congenital Amaurosis	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LEBER CONGENITAL AMAUROSIS 7	Leber Congenital Amaurosis	UNIPROT_DG	10887186, 20513135, 21602930, 9792858, 9931337		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LEBER CONGENITAL AMAUROSIS 7	Leber Congenital Amaurosis	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LEBER CONGENITAL AMAUROSIS 7	Leber Congenital Amaurosis	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LEBER CONGENITAL AMAUROSIS 7	Leber Congenital Amaurosis	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Liver carcinoma	Liver carcinoma	BEFREE	27299482		★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long QT Syndrome	BEFREE	26297099		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	28592245	Associate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	33836713, 33910785, 35934205, 37322672	Associate	★☆☆☆☆ Found in Text Mining only
Macular dystrophy	Macular dystrophy	BEFREE	28945142, 30067412, 31074760		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macular dystrophy	Macular dystrophy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macular dystrophy concentric annular	Macular dystrophy	Pubtator	37239417	Associate	★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30464450		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19936203		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	23235340, 29533784		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	36273157	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	30115001		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19686387, 19936203, 23235340, 28719464, 29533784		★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	BEFREE	10615133		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy Hereditary Leber	Leber hereditary optic neuropathy	Pubtator	9792858	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	11328746		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	30813123		★☆☆☆☆ Found in Text Mining only
Pendular Nystagmus	Pendular nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER	Peroxisomal fatty ACYL-CoA reductase 1 disorder	BEFREE	30561787		★☆☆☆☆ Found in Text Mining only
Pineal Gland Neoplasm	Pineal Gland Neoplasm	BEFREE	19936203, 23235340, 28719464		★☆☆☆☆ Found in Text Mining only
pineoblastoma	Pineoblastoma	BEFREE	19936203		★☆☆☆☆ Found in Text Mining only
Proliferative vitreoretinopathy	Proliferative Vitreoretinopathy	BEFREE	24227910		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	30464450		★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	11328746, 17356515, 29568065, 31626798	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal Diseases	Retinal detachment	Pubtator	10984472, 31574917	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	21835304, 24516401, 24888636, 28903150, 29184169, 9804150		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	25270190		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Retinal Dystrophy, Early Onset Severe	Retinal Dystrophy	BEFREE	24001014		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	10581037, 11748842, 11748859, 11875050, 17270046, 21835304, 22960069, 24516401, 24664697, 24888636, 29568065, 30543658		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	10984472, 11875050, 15994872, 19823680, 23559859, 29568065, 30543658, 37239417, 37322672, 9792858	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	UNIPROT_DG	11139241, 9427255, 9792858		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Retinitis Pigmentosa	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinoblastoma	Retinoblastoma	Pubtator	10220376, 11934446, 19686387, 25499675, 34639028	Associate	★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	11597600, 11934446, 19686387, 19936203, 23235340, 25928893, 26397460, 29089355, 29758594, 30803140		★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid Tumor	BEFREE	23235340		★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	BEFREE	10916183, 10967037, 11580893, 12668763, 12819982, 15531334, 18653602, 19172503, 24001014, 24516401, 24888636, 30095615, 31743059, 9390563, 9792858		★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Septo-Optic Dysplasia	Septo-Optic Dysplasia	BEFREE	10532715		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	23235340		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 7	Spinocerebellar Ataxia	BEFREE	11580893		★☆☆☆☆ Found in Text Mining only
Stargardt Disease	Stargardt disease	Pubtator	33836713	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Stomach Neoplasms	Stomach neoplasms	Pubtator	28078605	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	30918959		★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	11328746	Associate	★☆☆☆☆ Found in Text Mining only
Vitreoretinopathy Proliferative	Vitreoretinopathy	Pubtator	24227910	Associate	★☆☆☆☆ Found in Text Mining only