CABP4 (calcium binding protein 4)

Gene

• Entrez ID: 57010
• Gene name: Calcium binding protein 4
• Gene symbol: CABP4
• Synonyms (NCBI Gene): CRSD, CSNB2B
• Chromosome: 11
• Chromosome location: 11q13.2
• Summary: This gene encodes a member of the CABP family of calcium binding protein characterized by four EF-hand motifs. Mutations in this gene are associated with congenital stationary night blindness type 2B. Three transcript variants encoding two different isofo

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121917828	C>T	Pathogenic	Coding sequence variant, missense variant
rs150115958	C>A,T	Likely-pathogenic, pathogenic	Stop gained, genic downstream transcript variant, synonymous variant, coding sequence variant, downstream transcript variant
rs531851447	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs754194692	C>A,G,T	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant, missense variant
rs761991624	C>A,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant, genic downstream transcript variant
rs773516968	A>G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs786205249	AG>-	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, splice acceptor variant
rs786205852	->A	Pathogenic	Intron variant, frameshift variant, coding sequence variant, 5 prime UTR variant
rs1554998040	TGCCCTTCTCTCCCGCAGAGTTTGTGATGATGCTCTCCCGCCACTGAGGCTCCAGGAGGGAATATCTGTTGCCCCTGCGGCCCCAGACACCAGCCAGACCCAGGCTGCAGGCCTCCCCCAGGAGCCTCCAGGATGGAGATGGAGACCCAGCAGCCCCCAGACTACTTCTATCCCTGAAAACACCTGGCCTCAATGTTGGCTTGTTATGTTACCTGCCCACCCTCATCCTTACCTCCTCCTACTCAAGCTGCCTGG	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant, terminator codon variant, intron variant, downstream transcript variant, 3 prime UTR variant
rs1590998813	CC>A	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT708997	hsa-miR-1913	HITS-CLIP	19536157
MIRT708996	hsa-miR-324-3p	HITS-CLIP	19536157
MIRT708995	hsa-miR-18a-3p	HITS-CLIP	19536157
MIRT708994	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT708993	hsa-miR-4727-5p	HITS-CLIP	19536157
MIRT708992	hsa-miR-5001-3p	HITS-CLIP	19536157
MIRT708991	hsa-miR-6738-3p	HITS-CLIP	19536157
MIRT708990	hsa-miR-6819-3p	HITS-CLIP	19536157
MIRT708989	hsa-miR-6877-3p	HITS-CLIP	19536157
MIRT708988	hsa-miR-1245a	HITS-CLIP	19536157
MIRT708987	hsa-miR-8079	HITS-CLIP	19536157
MIRT708986	hsa-miR-6513-3p	HITS-CLIP	19536157
MIRT708985	hsa-miR-5193	HITS-CLIP	19536157
MIRT708984	hsa-miR-660-3p	HITS-CLIP	19536157
MIRT708983	hsa-miR-4722-3p	HITS-CLIP	19536157
MIRT708982	hsa-miR-6727-3p	HITS-CLIP	19536157
MIRT708981	hsa-miR-6747-3p	HITS-CLIP	19536157
MIRT708980	hsa-miR-221-5p	HITS-CLIP	19536157
MIRT708979	hsa-miR-8073	HITS-CLIP	19536157
MIRT708978	hsa-miR-1976	HITS-CLIP	19536157
MIRT708977	hsa-miR-3176	HITS-CLIP	19536157
MIRT708976	hsa-miR-3922-3p	HITS-CLIP	19536157
MIRT708975	hsa-miR-4757-5p	HITS-CLIP	19536157
MIRT708974	hsa-miR-6744-3p	HITS-CLIP	19536157
MIRT708973	hsa-miR-6878-3p	HITS-CLIP	19536157
MIRT690702	hsa-miR-4690-3p	HITS-CLIP	23313552
MIRT690701	hsa-miR-5685	HITS-CLIP	23313552
MIRT690700	hsa-miR-7977	HITS-CLIP	23313552
MIRT690699	hsa-miR-6807-5p	HITS-CLIP	23313552
MIRT679752	hsa-miR-122-3p	HITS-CLIP	23824327
MIRT679751	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT679750	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT679749	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT679748	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT679747	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT679746	hsa-miR-1281	HITS-CLIP	23824327
MIRT679745	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT679744	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT679743	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT679742	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT679741	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT679740	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT679739	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT679738	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT679737	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT679736	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT679735	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT679734	hsa-miR-3152-5p	HITS-CLIP	23824327
MIRT613259	hsa-miR-6759-3p	HITS-CLIP	23824327
MIRT613259	hsa-miR-6759-3p	HITS-CLIP	23824327
MIRT613259	hsa-miR-6759-3p	HITS-CLIP	23824327
MIRT613259	hsa-miR-6759-3p	HITS-CLIP	23824327
MIRT613259	hsa-miR-6759-3p	HITS-CLIP	23824327
MIRT613259	hsa-miR-6759-3p	HITS-CLIP	23824327
MIRT613259	hsa-miR-6759-3p	HITS-CLIP	23824327
MIRT624498	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT624497	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT624496	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT624495	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT624494	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT624493	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT624492	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT452992	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT624491	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT624490	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT452981	hsa-miR-7641	HITS-CLIP	23824327
MIRT613259	hsa-miR-6759-3p	HITS-CLIP	23824327
MIRT613259	hsa-miR-6759-3p	HITS-CLIP	23824327
MIRT613259	hsa-miR-6759-3p	HITS-CLIP	23824327
MIRT613259	hsa-miR-6759-3p	HITS-CLIP	23824327
MIRT613259	hsa-miR-6759-3p	HITS-CLIP	23824327
MIRT607560	hsa-miR-889-5p	HITS-CLIP	24906430
MIRT607559	hsa-miR-7974	HITS-CLIP	24906430
MIRT607558	hsa-miR-4687-3p	HITS-CLIP	24906430
MIRT514980	hsa-miR-6867-5p	HITS-CLIP	24906430
MIRT514978	hsa-miR-574-5p	HITS-CLIP	24906430
MIRT514984	hsa-miR-3163	PAR-CLIP	23446348
MIRT514983	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT514982	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT514981	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT514980	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT514979	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT514978	hsa-miR-574-5p	PAR-CLIP	23446348
MIRT452997	hsa-miR-3155a	PAR-CLIP	23592263
MIRT452996	hsa-miR-3155b	PAR-CLIP	23592263
MIRT452995	hsa-miR-484	PAR-CLIP	23592263
MIRT452993	hsa-miR-6787-3p	PAR-CLIP	23592263
MIRT452994	hsa-miR-7155-5p	PAR-CLIP	23592263
MIRT452992	hsa-miR-4695-3p	PAR-CLIP	23592263
MIRT452991	hsa-miR-3934-3p	PAR-CLIP	23592263
MIRT452990	hsa-miR-4731-5p	PAR-CLIP	23592263
MIRT452989	hsa-miR-4505	PAR-CLIP	23592263
MIRT452988	hsa-miR-5787	PAR-CLIP	23592263
MIRT452987	hsa-miR-342-5p	PAR-CLIP	23592263
MIRT452986	hsa-miR-4664-5p	PAR-CLIP	23592263
MIRT452985	hsa-miR-4651	PAR-CLIP	23592263
MIRT452984	hsa-miR-608	PAR-CLIP	23592263
MIRT452983	hsa-miR-6747-5p	PAR-CLIP	23592263
MIRT452982	hsa-miR-3650	PAR-CLIP	23592263
MIRT452981	hsa-miR-7641	PAR-CLIP	23592263
MIRT452980	hsa-miR-106a-3p	PAR-CLIP	23592263
MIRT452979	hsa-miR-1178-3p	PAR-CLIP	23592263
MIRT452977	hsa-miR-6737-5p	PAR-CLIP	23592263
MIRT452978	hsa-miR-6812-5p	PAR-CLIP	23592263
MIRT452976	hsa-miR-6819-5p	PAR-CLIP	23592263
MIRT452975	hsa-miR-3689d	PAR-CLIP	23592263
MIRT514979	hsa-miR-190a-3p	HITS-CLIP	27418678
MIRT514981	hsa-miR-223-5p	HITS-CLIP	27418678
MIRT514981	hsa-miR-223-5p	HITS-CLIP	27418678
MIRT514983	hsa-miR-410-3p	HITS-CLIP	27418678
MIRT607558	hsa-miR-4687-3p	HITS-CLIP	27418678
MIRT607558	hsa-miR-4687-3p	HITS-CLIP	27418678
MIRT514982	hsa-miR-5011-5p	HITS-CLIP	27418678
MIRT514982	hsa-miR-5011-5p	HITS-CLIP	27418678
MIRT514978	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT514978	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT514980	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT514980	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT607559	hsa-miR-7974	HITS-CLIP	27418678
MIRT607559	hsa-miR-7974	HITS-CLIP	27418678
MIRT607560	hsa-miR-889-5p	HITS-CLIP	27418678
MIRT607560	hsa-miR-889-5p	HITS-CLIP	27418678
MIRT708997	hsa-miR-1913	HITS-CLIP	19536157
MIRT708996	hsa-miR-324-3p	HITS-CLIP	19536157
MIRT708995	hsa-miR-18a-3p	HITS-CLIP	19536157
MIRT708994	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT708993	hsa-miR-4727-5p	HITS-CLIP	19536157
MIRT708992	hsa-miR-5001-3p	HITS-CLIP	19536157
MIRT708991	hsa-miR-6738-3p	HITS-CLIP	19536157
MIRT708990	hsa-miR-6819-3p	HITS-CLIP	19536157
MIRT708989	hsa-miR-6877-3p	HITS-CLIP	19536157
MIRT708988	hsa-miR-1245a	HITS-CLIP	19536157
MIRT708987	hsa-miR-8079	HITS-CLIP	19536157
MIRT708986	hsa-miR-6513-3p	HITS-CLIP	19536157
MIRT708985	hsa-miR-5193	HITS-CLIP	19536157
MIRT708984	hsa-miR-660-3p	HITS-CLIP	19536157
MIRT708983	hsa-miR-4722-3p	HITS-CLIP	19536157
MIRT708982	hsa-miR-6727-3p	HITS-CLIP	19536157
MIRT708981	hsa-miR-6747-3p	HITS-CLIP	19536157
MIRT708980	hsa-miR-221-5p	HITS-CLIP	19536157
MIRT708979	hsa-miR-8073	HITS-CLIP	19536157
MIRT708978	hsa-miR-1976	HITS-CLIP	19536157
MIRT708977	hsa-miR-3176	HITS-CLIP	19536157
MIRT708976	hsa-miR-3922-3p	HITS-CLIP	19536157
MIRT708975	hsa-miR-4757-5p	HITS-CLIP	19536157
MIRT708974	hsa-miR-6744-3p	HITS-CLIP	19536157
MIRT708973	hsa-miR-6878-3p	HITS-CLIP	19536157
MIRT690702	hsa-miR-4690-3p	HITS-CLIP	23313552
MIRT690701	hsa-miR-5685	HITS-CLIP	23313552
MIRT690700	hsa-miR-7977	HITS-CLIP	23313552
MIRT690699	hsa-miR-6807-5p	HITS-CLIP	23313552
MIRT679752	hsa-miR-122-3p	HITS-CLIP	23824327
MIRT679751	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT679750	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT679749	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT679748	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT679747	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT679746	hsa-miR-1281	HITS-CLIP	23824327
MIRT679745	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT679744	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT679743	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT679742	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT679741	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT679740	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT679739	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT679738	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT679737	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT679736	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT679735	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT679734	hsa-miR-3152-5p	HITS-CLIP	23824327
MIRT613259	hsa-miR-6759-3p	HITS-CLIP	23824327
MIRT613259	hsa-miR-6759-3p	HITS-CLIP	23824327
MIRT613259	hsa-miR-6759-3p	HITS-CLIP	23824327
MIRT613259	hsa-miR-6759-3p	HITS-CLIP	23824327
MIRT613259	hsa-miR-6759-3p	HITS-CLIP	23824327
MIRT613259	hsa-miR-6759-3p	HITS-CLIP	23824327
MIRT613259	hsa-miR-6759-3p	HITS-CLIP	23824327
MIRT624498	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT624497	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT624496	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT624495	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT624494	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT624493	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT624492	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT452992	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT624491	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT624490	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT452981	hsa-miR-7641	HITS-CLIP	23824327
MIRT613259	hsa-miR-6759-3p	HITS-CLIP	23824327
MIRT613259	hsa-miR-6759-3p	HITS-CLIP	23824327
MIRT613259	hsa-miR-6759-3p	HITS-CLIP	23824327
MIRT613259	hsa-miR-6759-3p	HITS-CLIP	23824327
MIRT613259	hsa-miR-6759-3p	HITS-CLIP	23824327
MIRT514984	hsa-miR-3163	PAR-CLIP	23446348
MIRT514983	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT514982	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT514981	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT514980	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT514979	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT514978	hsa-miR-574-5p	PAR-CLIP	23446348
MIRT452997	hsa-miR-3155a	PAR-CLIP	23592263
MIRT452996	hsa-miR-3155b	PAR-CLIP	23592263
MIRT452995	hsa-miR-484	PAR-CLIP	23592263
MIRT452993	hsa-miR-6787-3p	PAR-CLIP	23592263
MIRT452994	hsa-miR-7155-5p	PAR-CLIP	23592263
MIRT452992	hsa-miR-4695-3p	PAR-CLIP	23592263
MIRT452991	hsa-miR-3934-3p	PAR-CLIP	23592263
MIRT452990	hsa-miR-4731-5p	PAR-CLIP	23592263
MIRT452989	hsa-miR-4505	PAR-CLIP	23592263
MIRT452988	hsa-miR-5787	PAR-CLIP	23592263
MIRT452987	hsa-miR-342-5p	PAR-CLIP	23592263
MIRT452986	hsa-miR-4664-5p	PAR-CLIP	23592263
MIRT452985	hsa-miR-4651	PAR-CLIP	23592263
MIRT452984	hsa-miR-608	PAR-CLIP	23592263
MIRT452983	hsa-miR-6747-5p	PAR-CLIP	23592263
MIRT452982	hsa-miR-3650	PAR-CLIP	23592263
MIRT452981	hsa-miR-7641	PAR-CLIP	23592263
MIRT452980	hsa-miR-106a-3p	PAR-CLIP	23592263
MIRT452979	hsa-miR-1178-3p	PAR-CLIP	23592263
MIRT452977	hsa-miR-6737-5p	PAR-CLIP	23592263
MIRT452978	hsa-miR-6812-5p	PAR-CLIP	23592263
MIRT452976	hsa-miR-6819-5p	PAR-CLIP	23592263
MIRT452975	hsa-miR-3689d	PAR-CLIP	23592263
MIRT857214	hsa-miR-105	CLIP-seq
MIRT857215	hsa-miR-106a	CLIP-seq
MIRT857216	hsa-miR-106b	CLIP-seq
MIRT857217	hsa-miR-1182	CLIP-seq
MIRT857218	hsa-miR-1184	CLIP-seq
MIRT857219	hsa-miR-1207-5p	CLIP-seq
MIRT857220	hsa-miR-1208	CLIP-seq
MIRT857221	hsa-miR-1245	CLIP-seq
MIRT857222	hsa-miR-1258	CLIP-seq
MIRT857223	hsa-miR-1273f	CLIP-seq
MIRT857224	hsa-miR-129-5p	CLIP-seq
MIRT857225	hsa-miR-1296	CLIP-seq
MIRT857226	hsa-miR-1301	CLIP-seq
MIRT857227	hsa-miR-1343	CLIP-seq
MIRT857228	hsa-miR-145	CLIP-seq
MIRT857229	hsa-miR-150	CLIP-seq
MIRT857230	hsa-miR-17	CLIP-seq
MIRT857231	hsa-miR-1827	CLIP-seq
MIRT857232	hsa-miR-193a-5p	CLIP-seq
MIRT857233	hsa-miR-197	CLIP-seq
MIRT857234	hsa-miR-20a	CLIP-seq
MIRT857235	hsa-miR-20b	CLIP-seq
MIRT857236	hsa-miR-2909	CLIP-seq
MIRT857237	hsa-miR-302a	CLIP-seq
MIRT857238	hsa-miR-302b	CLIP-seq
MIRT857239	hsa-miR-302c	CLIP-seq
MIRT857240	hsa-miR-302d	CLIP-seq
MIRT857241	hsa-miR-302e	CLIP-seq
MIRT857242	hsa-miR-3149	CLIP-seq
MIRT857243	hsa-miR-3152-3p	CLIP-seq
MIRT857244	hsa-miR-3170	CLIP-seq
MIRT857245	hsa-miR-3180-5p	CLIP-seq
MIRT857246	hsa-miR-3199	CLIP-seq
MIRT857247	hsa-miR-325	CLIP-seq
MIRT857248	hsa-miR-345	CLIP-seq
MIRT857249	hsa-miR-3658	CLIP-seq
MIRT857250	hsa-miR-3663-5p	CLIP-seq
MIRT857251	hsa-miR-3692	CLIP-seq
MIRT857252	hsa-miR-371-5p	CLIP-seq
MIRT857253	hsa-miR-371b-5p	CLIP-seq
MIRT857254	hsa-miR-372	CLIP-seq
MIRT857255	hsa-miR-373	CLIP-seq
MIRT857256	hsa-miR-378g	CLIP-seq
MIRT857257	hsa-miR-3925-3p	CLIP-seq
MIRT857258	hsa-miR-3929	CLIP-seq
MIRT857259	hsa-miR-411	CLIP-seq
MIRT857260	hsa-miR-4258	CLIP-seq
MIRT857261	hsa-miR-431	CLIP-seq
MIRT857262	hsa-miR-4328	CLIP-seq
MIRT857263	hsa-miR-4418	CLIP-seq
MIRT857264	hsa-miR-4419b	CLIP-seq
MIRT857265	hsa-miR-4420	CLIP-seq
MIRT857266	hsa-miR-4423-5p	CLIP-seq
MIRT857267	hsa-miR-4436b-3p	CLIP-seq
MIRT857268	hsa-miR-4436b-5p	CLIP-seq
MIRT857269	hsa-miR-4437	CLIP-seq
MIRT857270	hsa-miR-4438	CLIP-seq
MIRT857271	hsa-miR-4478	CLIP-seq
MIRT857272	hsa-miR-4532	CLIP-seq
MIRT857273	hsa-miR-4645-5p	CLIP-seq
MIRT857274	hsa-miR-4660	CLIP-seq
MIRT857275	hsa-miR-4662a-5p	CLIP-seq
MIRT857276	hsa-miR-4673	CLIP-seq
MIRT857277	hsa-miR-4674	CLIP-seq
MIRT857278	hsa-miR-4676-5p	CLIP-seq
MIRT857279	hsa-miR-4707-3p	CLIP-seq
MIRT857280	hsa-miR-4716-5p	CLIP-seq
MIRT857281	hsa-miR-4761-3p	CLIP-seq
MIRT857282	hsa-miR-4763-3p	CLIP-seq
MIRT857283	hsa-miR-4768-5p	CLIP-seq
MIRT857284	hsa-miR-501-5p	CLIP-seq
MIRT857285	hsa-miR-5047	CLIP-seq
MIRT857286	hsa-miR-509-3-5p	CLIP-seq
MIRT857287	hsa-miR-5095	CLIP-seq
MIRT857288	hsa-miR-509-5p	CLIP-seq
MIRT857289	hsa-miR-5096	CLIP-seq
MIRT857290	hsa-miR-512-3p	CLIP-seq
MIRT857291	hsa-miR-519d	CLIP-seq
MIRT857292	hsa-miR-520a-3p	CLIP-seq
MIRT857293	hsa-miR-520b	CLIP-seq
MIRT857294	hsa-miR-520c-3p	CLIP-seq
MIRT857295	hsa-miR-520d-3p	CLIP-seq
MIRT857296	hsa-miR-520e	CLIP-seq
MIRT857297	hsa-miR-520g	CLIP-seq
MIRT857298	hsa-miR-520h	CLIP-seq
MIRT857299	hsa-miR-575	CLIP-seq
MIRT857300	hsa-miR-587	CLIP-seq
MIRT857301	hsa-miR-593	CLIP-seq
MIRT857302	hsa-miR-766	CLIP-seq
MIRT857303	hsa-miR-892a	CLIP-seq
MIRT857304	hsa-miR-93	CLIP-seq
MIRT857305	hsa-miR-940	CLIP-seq
MIRT1546030	hsa-miR-122	CLIP-seq
MIRT1546031	hsa-miR-3135b	CLIP-seq
MIRT1546032	hsa-miR-3652	CLIP-seq
MIRT1546033	hsa-miR-4430	CLIP-seq
MIRT857214	hsa-miR-105	CLIP-seq
MIRT857215	hsa-miR-106a	CLIP-seq
MIRT857216	hsa-miR-106b	CLIP-seq
MIRT857218	hsa-miR-1184	CLIP-seq
MIRT1546030	hsa-miR-122	CLIP-seq
MIRT1954615	hsa-miR-1224-3p	CLIP-seq
MIRT857221	hsa-miR-1245	CLIP-seq
MIRT1954616	hsa-miR-1260	CLIP-seq
MIRT1954617	hsa-miR-1260b	CLIP-seq
MIRT1954618	hsa-miR-1280	CLIP-seq
MIRT857224	hsa-miR-129-5p	CLIP-seq
MIRT857226	hsa-miR-1301	CLIP-seq
MIRT1954619	hsa-miR-1307	CLIP-seq
MIRT857227	hsa-miR-1343	CLIP-seq
MIRT1954620	hsa-miR-139-3p	CLIP-seq
MIRT857229	hsa-miR-150	CLIP-seq
MIRT857230	hsa-miR-17	CLIP-seq
MIRT857233	hsa-miR-197	CLIP-seq
MIRT1954621	hsa-miR-2052	CLIP-seq
MIRT857234	hsa-miR-20a	CLIP-seq
MIRT857235	hsa-miR-20b	CLIP-seq
MIRT1954622	hsa-miR-2276	CLIP-seq
MIRT1954623	hsa-miR-29a	CLIP-seq
MIRT1954624	hsa-miR-29b	CLIP-seq
MIRT1954625	hsa-miR-29c	CLIP-seq
MIRT857237	hsa-miR-302a	CLIP-seq
MIRT857238	hsa-miR-302b	CLIP-seq
MIRT857239	hsa-miR-302c	CLIP-seq
MIRT857240	hsa-miR-302d	CLIP-seq
MIRT857241	hsa-miR-302e	CLIP-seq
MIRT1546031	hsa-miR-3135b	CLIP-seq
MIRT857242	hsa-miR-3149	CLIP-seq
MIRT857246	hsa-miR-3199	CLIP-seq
MIRT857247	hsa-miR-325	CLIP-seq
MIRT1546032	hsa-miR-3652	CLIP-seq
MIRT857250	hsa-miR-3663-5p	CLIP-seq
MIRT1954626	hsa-miR-3672	CLIP-seq
MIRT857252	hsa-miR-371-5p	CLIP-seq
MIRT857254	hsa-miR-372	CLIP-seq
MIRT857255	hsa-miR-373	CLIP-seq
MIRT857256	hsa-miR-378g	CLIP-seq
MIRT857259	hsa-miR-411	CLIP-seq
MIRT1954627	hsa-miR-4284	CLIP-seq
MIRT1954628	hsa-miR-4294	CLIP-seq
MIRT857263	hsa-miR-4418	CLIP-seq
MIRT1546033	hsa-miR-4430	CLIP-seq
MIRT1954629	hsa-miR-4431	CLIP-seq
MIRT857269	hsa-miR-4437	CLIP-seq
MIRT857270	hsa-miR-4438	CLIP-seq
MIRT1954630	hsa-miR-4466	CLIP-seq
MIRT857272	hsa-miR-4532	CLIP-seq
MIRT1954631	hsa-miR-4638-5p	CLIP-seq
MIRT857274	hsa-miR-4660	CLIP-seq
MIRT857277	hsa-miR-4674	CLIP-seq
MIRT857279	hsa-miR-4707-3p	CLIP-seq
MIRT857280	hsa-miR-4716-5p	CLIP-seq
MIRT1954632	hsa-miR-4735-5p	CLIP-seq
MIRT1954633	hsa-miR-4772-3p	CLIP-seq
MIRT1954634	hsa-miR-4775	CLIP-seq
MIRT1954635	hsa-miR-4794	CLIP-seq
MIRT857285	hsa-miR-5047	CLIP-seq
MIRT857286	hsa-miR-509-3-5p	CLIP-seq
MIRT857287	hsa-miR-5095	CLIP-seq
MIRT857288	hsa-miR-509-5p	CLIP-seq
MIRT857289	hsa-miR-5096	CLIP-seq
MIRT857290	hsa-miR-512-3p	CLIP-seq
MIRT857291	hsa-miR-519d	CLIP-seq
MIRT857292	hsa-miR-520a-3p	CLIP-seq
MIRT857293	hsa-miR-520b	CLIP-seq
MIRT857294	hsa-miR-520c-3p	CLIP-seq
MIRT857295	hsa-miR-520d-3p	CLIP-seq
MIRT857296	hsa-miR-520e	CLIP-seq
MIRT857297	hsa-miR-520g	CLIP-seq
MIRT857298	hsa-miR-520h	CLIP-seq
MIRT1954636	hsa-miR-532-3p	CLIP-seq
MIRT1954637	hsa-miR-564	CLIP-seq
MIRT1954638	hsa-miR-590-3p	CLIP-seq
MIRT1954639	hsa-miR-675	CLIP-seq
MIRT857304	hsa-miR-93	CLIP-seq
MIRT857215	hsa-miR-106a	CLIP-seq
MIRT857216	hsa-miR-106b	CLIP-seq
MIRT857218	hsa-miR-1184	CLIP-seq
MIRT2192216	hsa-miR-1193	CLIP-seq
MIRT2192217	hsa-miR-1200	CLIP-seq
MIRT857220	hsa-miR-1208	CLIP-seq
MIRT1546030	hsa-miR-122	CLIP-seq
MIRT1954615	hsa-miR-1224-3p	CLIP-seq
MIRT857223	hsa-miR-1273f	CLIP-seq
MIRT2192218	hsa-miR-1283	CLIP-seq
MIRT857224	hsa-miR-129-5p	CLIP-seq
MIRT857226	hsa-miR-1301	CLIP-seq
MIRT1954619	hsa-miR-1307	CLIP-seq
MIRT857227	hsa-miR-1343	CLIP-seq
MIRT857229	hsa-miR-150	CLIP-seq
MIRT857230	hsa-miR-17	CLIP-seq
MIRT857233	hsa-miR-197	CLIP-seq
MIRT857234	hsa-miR-20a	CLIP-seq
MIRT857235	hsa-miR-20b	CLIP-seq
MIRT1954622	hsa-miR-2276	CLIP-seq
MIRT2192219	hsa-miR-2278	CLIP-seq
MIRT2192220	hsa-miR-2392	CLIP-seq
MIRT857237	hsa-miR-302a	CLIP-seq
MIRT857238	hsa-miR-302b	CLIP-seq
MIRT857239	hsa-miR-302c	CLIP-seq
MIRT857240	hsa-miR-302d	CLIP-seq
MIRT857241	hsa-miR-302e	CLIP-seq
MIRT2192221	hsa-miR-3120-5p	CLIP-seq
MIRT1546031	hsa-miR-3135b	CLIP-seq
MIRT2192222	hsa-miR-3137	CLIP-seq
MIRT857242	hsa-miR-3149	CLIP-seq
MIRT857243	hsa-miR-3152-3p	CLIP-seq
MIRT857244	hsa-miR-3170	CLIP-seq
MIRT2192223	hsa-miR-3194-3p	CLIP-seq
MIRT857246	hsa-miR-3199	CLIP-seq
MIRT857247	hsa-miR-325	CLIP-seq
MIRT1546032	hsa-miR-3652	CLIP-seq
MIRT2192224	hsa-miR-3670	CLIP-seq
MIRT857254	hsa-miR-372	CLIP-seq
MIRT857255	hsa-miR-373	CLIP-seq
MIRT857256	hsa-miR-378g	CLIP-seq
MIRT2192225	hsa-miR-3909	CLIP-seq
MIRT2192226	hsa-miR-3928	CLIP-seq
MIRT2192227	hsa-miR-3934	CLIP-seq
MIRT857259	hsa-miR-411	CLIP-seq
MIRT2192228	hsa-miR-421	CLIP-seq
MIRT2192229	hsa-miR-4264	CLIP-seq
MIRT1954627	hsa-miR-4284	CLIP-seq
MIRT2192230	hsa-miR-4302	CLIP-seq
MIRT2192231	hsa-miR-4324	CLIP-seq
MIRT857263	hsa-miR-4418	CLIP-seq
MIRT857265	hsa-miR-4420	CLIP-seq
MIRT857266	hsa-miR-4423-5p	CLIP-seq
MIRT1546033	hsa-miR-4430	CLIP-seq
MIRT857269	hsa-miR-4437	CLIP-seq
MIRT857270	hsa-miR-4438	CLIP-seq
MIRT1954630	hsa-miR-4466	CLIP-seq
MIRT1954631	hsa-miR-4638-5p	CLIP-seq
MIRT857273	hsa-miR-4645-5p	CLIP-seq
MIRT857274	hsa-miR-4660	CLIP-seq
MIRT857275	hsa-miR-4662a-5p	CLIP-seq
MIRT857276	hsa-miR-4673	CLIP-seq
MIRT857277	hsa-miR-4674	CLIP-seq
MIRT857278	hsa-miR-4676-5p	CLIP-seq
MIRT2192232	hsa-miR-4709-5p	CLIP-seq
MIRT857280	hsa-miR-4716-5p	CLIP-seq
MIRT1954632	hsa-miR-4735-5p	CLIP-seq
MIRT1954634	hsa-miR-4775	CLIP-seq
MIRT2192233	hsa-miR-4797-3p	CLIP-seq
MIRT857285	hsa-miR-5047	CLIP-seq
MIRT857286	hsa-miR-509-3-5p	CLIP-seq
MIRT857287	hsa-miR-5095	CLIP-seq
MIRT857288	hsa-miR-509-5p	CLIP-seq
MIRT857289	hsa-miR-5096	CLIP-seq
MIRT857290	hsa-miR-512-3p	CLIP-seq
MIRT857291	hsa-miR-519d	CLIP-seq
MIRT857292	hsa-miR-520a-3p	CLIP-seq
MIRT857293	hsa-miR-520b	CLIP-seq
MIRT857294	hsa-miR-520c-3p	CLIP-seq
MIRT857295	hsa-miR-520d-3p	CLIP-seq
MIRT857296	hsa-miR-520e	CLIP-seq
MIRT857297	hsa-miR-520g	CLIP-seq
MIRT857298	hsa-miR-520h	CLIP-seq
MIRT2192234	hsa-miR-541	CLIP-seq
MIRT2192235	hsa-miR-544b	CLIP-seq
MIRT1954637	hsa-miR-564	CLIP-seq
MIRT857299	hsa-miR-575	CLIP-seq
MIRT1954638	hsa-miR-590-3p	CLIP-seq
MIRT857301	hsa-miR-593	CLIP-seq
MIRT2192236	hsa-miR-637	CLIP-seq
MIRT2192237	hsa-miR-654-5p	CLIP-seq
MIRT1954639	hsa-miR-675	CLIP-seq
MIRT857303	hsa-miR-892a	CLIP-seq
MIRT2192238	hsa-miR-922	CLIP-seq
MIRT857304	hsa-miR-93	CLIP-seq
MIRT1546030	hsa-miR-122	CLIP-seq
MIRT857227	hsa-miR-1343	CLIP-seq
MIRT1546031	hsa-miR-3135b	CLIP-seq
MIRT1546032	hsa-miR-3652	CLIP-seq
MIRT857259	hsa-miR-411	CLIP-seq
MIRT1546033	hsa-miR-4430	CLIP-seq
MIRT857269	hsa-miR-4437	CLIP-seq
MIRT1954637	hsa-miR-564	CLIP-seq
MIRT857218	hsa-miR-1184	CLIP-seq
MIRT1546030	hsa-miR-122	CLIP-seq
MIRT857221	hsa-miR-1245	CLIP-seq
MIRT857227	hsa-miR-1343	CLIP-seq
MIRT857233	hsa-miR-197	CLIP-seq
MIRT1954623	hsa-miR-29a	CLIP-seq
MIRT1954624	hsa-miR-29b	CLIP-seq
MIRT1954625	hsa-miR-29c	CLIP-seq
MIRT1546031	hsa-miR-3135b	CLIP-seq
MIRT2192222	hsa-miR-3137	CLIP-seq
MIRT857242	hsa-miR-3149	CLIP-seq
MIRT1546032	hsa-miR-3652	CLIP-seq
MIRT857256	hsa-miR-378g	CLIP-seq
MIRT857259	hsa-miR-411	CLIP-seq
MIRT1954628	hsa-miR-4294	CLIP-seq
MIRT857263	hsa-miR-4418	CLIP-seq
MIRT1546033	hsa-miR-4430	CLIP-seq
MIRT857269	hsa-miR-4437	CLIP-seq
MIRT857277	hsa-miR-4674	CLIP-seq
MIRT857280	hsa-miR-4716-5p	CLIP-seq
MIRT1954632	hsa-miR-4735-5p	CLIP-seq
MIRT1954634	hsa-miR-4775	CLIP-seq
MIRT1954635	hsa-miR-4794	CLIP-seq
MIRT857286	hsa-miR-509-3-5p	CLIP-seq
MIRT857288	hsa-miR-509-5p	CLIP-seq
MIRT857289	hsa-miR-5096	CLIP-seq
MIRT1954638	hsa-miR-590-3p	CLIP-seq
MIRT2446008	hsa-miR-720	CLIP-seq
MIRT857218	hsa-miR-1184	CLIP-seq
MIRT857221	hsa-miR-1245	CLIP-seq
MIRT857227	hsa-miR-1343	CLIP-seq
MIRT857242	hsa-miR-3149	CLIP-seq
MIRT857256	hsa-miR-378g	CLIP-seq
MIRT857259	hsa-miR-411	CLIP-seq
MIRT857263	hsa-miR-4418	CLIP-seq
MIRT857269	hsa-miR-4437	CLIP-seq
MIRT857277	hsa-miR-4674	CLIP-seq
MIRT1954632	hsa-miR-4735-5p	CLIP-seq
MIRT1954634	hsa-miR-4775	CLIP-seq
MIRT1954635	hsa-miR-4794	CLIP-seq
MIRT857286	hsa-miR-509-3-5p	CLIP-seq
MIRT857288	hsa-miR-509-5p	CLIP-seq
MIRT1954638	hsa-miR-590-3p	CLIP-seq
MIRT857218	hsa-miR-1184	CLIP-seq
MIRT1546030	hsa-miR-122	CLIP-seq
MIRT1954615	hsa-miR-1224-3p	CLIP-seq
MIRT857221	hsa-miR-1245	CLIP-seq
MIRT1954616	hsa-miR-1260	CLIP-seq
MIRT1954617	hsa-miR-1260b	CLIP-seq
MIRT1954618	hsa-miR-1280	CLIP-seq
MIRT857224	hsa-miR-129-5p	CLIP-seq
MIRT857226	hsa-miR-1301	CLIP-seq
MIRT1954619	hsa-miR-1307	CLIP-seq
MIRT857227	hsa-miR-1343	CLIP-seq
MIRT857233	hsa-miR-197	CLIP-seq
MIRT1954622	hsa-miR-2276	CLIP-seq
MIRT1954623	hsa-miR-29a	CLIP-seq
MIRT1954624	hsa-miR-29b	CLIP-seq
MIRT1954625	hsa-miR-29c	CLIP-seq
MIRT1546031	hsa-miR-3135b	CLIP-seq
MIRT2192222	hsa-miR-3137	CLIP-seq
MIRT857242	hsa-miR-3149	CLIP-seq
MIRT1546032	hsa-miR-3652	CLIP-seq
MIRT857256	hsa-miR-378g	CLIP-seq
MIRT857259	hsa-miR-411	CLIP-seq
MIRT857260	hsa-miR-4258	CLIP-seq
MIRT1954627	hsa-miR-4284	CLIP-seq
MIRT1954628	hsa-miR-4294	CLIP-seq
MIRT857266	hsa-miR-4423-5p	CLIP-seq
MIRT1546033	hsa-miR-4430	CLIP-seq
MIRT857269	hsa-miR-4437	CLIP-seq
MIRT857272	hsa-miR-4532	CLIP-seq
MIRT1954631	hsa-miR-4638-5p	CLIP-seq
MIRT857274	hsa-miR-4660	CLIP-seq
MIRT857277	hsa-miR-4674	CLIP-seq
MIRT857279	hsa-miR-4707-3p	CLIP-seq
MIRT857280	hsa-miR-4716-5p	CLIP-seq
MIRT1954632	hsa-miR-4735-5p	CLIP-seq
MIRT1954634	hsa-miR-4775	CLIP-seq
MIRT2495628	hsa-miR-4786-3p	CLIP-seq
MIRT1954635	hsa-miR-4794	CLIP-seq
MIRT857285	hsa-miR-5047	CLIP-seq
MIRT857289	hsa-miR-5096	CLIP-seq
MIRT1954636	hsa-miR-532-3p	CLIP-seq
MIRT1954638	hsa-miR-590-3p	CLIP-seq
MIRT2446008	hsa-miR-720	CLIP-seq
MIRT857218	hsa-miR-1184	CLIP-seq
MIRT1546030	hsa-miR-122	CLIP-seq
MIRT1954615	hsa-miR-1224-3p	CLIP-seq
MIRT857221	hsa-miR-1245	CLIP-seq
MIRT1954616	hsa-miR-1260	CLIP-seq
MIRT1954617	hsa-miR-1260b	CLIP-seq
MIRT1954618	hsa-miR-1280	CLIP-seq
MIRT857224	hsa-miR-129-5p	CLIP-seq
MIRT857226	hsa-miR-1301	CLIP-seq
MIRT1954619	hsa-miR-1307	CLIP-seq
MIRT857227	hsa-miR-1343	CLIP-seq
MIRT857233	hsa-miR-197	CLIP-seq
MIRT1954622	hsa-miR-2276	CLIP-seq
MIRT1954623	hsa-miR-29a	CLIP-seq
MIRT1954624	hsa-miR-29b	CLIP-seq
MIRT1954625	hsa-miR-29c	CLIP-seq
MIRT1546031	hsa-miR-3135b	CLIP-seq
MIRT2192222	hsa-miR-3137	CLIP-seq
MIRT857242	hsa-miR-3149	CLIP-seq
MIRT857246	hsa-miR-3199	CLIP-seq
MIRT1546032	hsa-miR-3652	CLIP-seq
MIRT857256	hsa-miR-378g	CLIP-seq
MIRT857259	hsa-miR-411	CLIP-seq
MIRT857260	hsa-miR-4258	CLIP-seq
MIRT1954627	hsa-miR-4284	CLIP-seq
MIRT1954628	hsa-miR-4294	CLIP-seq
MIRT857266	hsa-miR-4423-5p	CLIP-seq
MIRT1546033	hsa-miR-4430	CLIP-seq
MIRT857269	hsa-miR-4437	CLIP-seq
MIRT857270	hsa-miR-4438	CLIP-seq
MIRT857272	hsa-miR-4532	CLIP-seq
MIRT1954631	hsa-miR-4638-5p	CLIP-seq
MIRT857274	hsa-miR-4660	CLIP-seq
MIRT857277	hsa-miR-4674	CLIP-seq
MIRT857279	hsa-miR-4707-3p	CLIP-seq
MIRT857280	hsa-miR-4716-5p	CLIP-seq
MIRT1954632	hsa-miR-4735-5p	CLIP-seq
MIRT1954634	hsa-miR-4775	CLIP-seq
MIRT1954635	hsa-miR-4794	CLIP-seq
MIRT857285	hsa-miR-5047	CLIP-seq
MIRT857287	hsa-miR-5095	CLIP-seq
MIRT857289	hsa-miR-5096	CLIP-seq
MIRT1954636	hsa-miR-532-3p	CLIP-seq
MIRT1954638	hsa-miR-590-3p	CLIP-seq
MIRT2446008	hsa-miR-720	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005246	Function	Calcium channel regulator activity	IBA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005509	Function	Calcium ion binding	NAS	16960802
GO:0005509	Function	Calcium ion binding	TAS	15452577
GO:0005576	Component	Extracellular region	NAS	16960802
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	19338761
GO:0007165	Process	Signal transduction	NAS	10625670
GO:0007601	Process	Visual perception	IBA
GO:0007601	Process	Visual perception	IMP	16960802
GO:0007602	Process	Phototransduction	IEA
GO:0008594	Process	Photoreceptor cell morphogenesis	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043195	Component	Terminal bouton	TAS	15452577
GO:0044325	Function	Transmembrane transporter binding	IPI	27226626
GO:0045202	Component	Synapse	IEA
GO:0045202	Component	Synapse	TAS	16960802
GO:0046549	Process	Retinal cone cell development	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0060040	Process	Retinal bipolar neuron differentiation	IEA
GO:0098793	Component	Presynapse	IEA

Other IDs

• MIM: 608965
• HGNC: 1386
• e!Ensembl: ENSG00000175544

Protein

• UniProt ID: P57796
• Protein name: Calcium-binding protein 4 (CaBP4)
• Protein function: Involved in normal synaptic function through regulation of Ca(2+) influx and neurotransmitter release in photoreceptor synaptic terminals and in auditory transmission. Modulator of CACNA1D and CACNA1F, suppressing the calcium-dependent inactivat
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00036	EF-hand_1	133 → 161	EF hand	Domain
  PF13499	EF-hand_7	209 → 273	EF-hand domain pair	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in retina and in the inner hair cells (IHC) of the cochlea.
• Sequence:

  MTTEQARGQQGPNLAIGRQKPPAGVVTPKSDAEEPPLTRKRSKKERGLRGSRKRTGSSGE
  QTGPEAPGSSNNPPSTGEGPAGAPPASPGPASSRQSHRHRPDSLHDAAQRTYGPLLNRVF
  GKDRELGPEELDELQAAFEEFDTDRDGYISHRELGDCMRTLGYMPTEMELLEVSQHIKMR
  MGGRVDFEEFVELIGPKLREETAHMLGVRELRIAFREFDRDRDGRITVAELREAVPALLG
  EPLAGPELDEMLREVDLNGDGTVDFDEFVMMLSRH

• Sequence length: 275

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
Achromatopsia	Pathogenic	rs150115958	RCV000787800	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone dystrophy	Pathogenic	rs531851447	RCV000504725	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone-rod dystrophy	Pathogenic	rs150115958	RCV000787550	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone-rod synaptic disorder, congenital nonprogressive	Pathogenic; Likely pathogenic	rs745382789, rs777555935, rs779788706, rs786205249, rs150115958, rs786205852, rs199636248, rs531851447, rs1590998813, rs775166854	RCV001542588 RCV001542589 RCV003387538 RCV000002029 RCV000171132 RCV000171133 RCV005356268 RCV001253657 RCV000786935 RCV001593253	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Disorder of eye	Pathogenic	rs150115958	RCV005625359	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Pathogenic; Likely pathogenic	rs1482314855, rs531851447, rs1554998040, rs775166854	RCV004815526 RCV001074813 RCV000505064 RCV001073774	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Aland island eye disease	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY	—	Disgenet Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CABP4-related disorder	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital stationary night blindness	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Congenital Stationary Night Blindness, Recessive	Conflicting classifications of pathogenicity; Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIGHT BLINDNESS, CONGENITAL STATIONARY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULAR ALBINISM, TYPE II	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher syndrome	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Achromatopsia	Achromatopsia	CLINVAR_DG	30718709		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amaurosis congenita of Leber type 1	Leber congenital amaurosis	Pubtator	40294858	Associate	★☆☆☆☆ Found in Text Mining only
Amaurosis congenita of Leber, type 1	Leber congenital amaurosis	BEFREE	20157620		★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Nocturnal Epilepsy	ORPHANET_DG	29108277		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant nocturnal frontal lobe epilepsy	Nocturnal Epilepsy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone Dystrophy	Cone Dystrophy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone-Rod Dystrophies	Cone-rod dystrophy	CLINVAR_DG	30718709		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-rod synaptic disorder, congenital nonprogressive	Congenital stationary night blindness	UNIPROT_DG	16960802		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cone-rod synaptic disorder, congenital nonprogressive	Congenital stationary night blindness	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cone-rod synaptic disorder, congenital nonprogressive	Congenital stationary night blindness	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cone-rod synaptic disorder, congenital nonprogressive	Congenital stationary night blindness	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital stationary night blindness	Congenital stationary night blindness	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperopia	Hyperopia	BEFREE	28751151		★☆☆☆☆ Found in Text Mining only
Hypoplasia of optic disc	Hypoplasia Of Optic Disc	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leber Congenital Amaurosis	Leber Congenital Amaurosis	BEFREE	20157620		★☆☆☆☆ Found in Text Mining only
Leber Congenital Amaurosis	Leber congenital amaurosis	Pubtator	20157620	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	BEFREE	28751151		★☆☆☆☆ Found in Text Mining only
Night blindness congenital stationary	Night blindness, congenital stationary	Pubtator	16960802, 19578023, 20157620	Associate	★☆☆☆☆ Found in Text Mining only
Night blindness, congenital stationary	Night blindness	BEFREE	16960802, 20157620		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Night blindness, congenital stationary	Night blindness	ORPHANET_DG	16960802		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Night blindness, congenital stationary	Night blindness	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Night blindness, congenital stationary	Night blindness	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A	Night blindness	BEFREE	15452577		★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	BEFREE	16960802, 22936811		★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	LHGDN	16960802		★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	28635425		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	36311731	Associate	★☆☆☆☆ Found in Text Mining only