LRAT (lecithin retinol acyltransferase)

Gene

• Entrez ID: 9227
• Gene name: Lecithin retinol acyltransferase
• Gene symbol: LRAT
• Synonyms (NCBI Gene): LCA14
• Chromosome: 4
• Chromosome location: 4q32.1
• Summary: The protein encoded by this gene localizes to the endoplasmic reticulum, where it catalyzes the esterification of all-trans-retinol into all-trans-retinyl ester. This reaction is an important step in vitamin A metabolism in the visual system. Mutations in

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104893848	T>A,C	Pathogenic, not-provided	Missense variant, non coding transcript variant, synonymous variant, coding sequence variant
rs398124185	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs527236079	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs761717462	AA>-,AAA	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs765063151	->C	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs768255532	G>A,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, missense variant
rs779996159	C>A,T	Likely-pathogenic	Synonymous variant, coding sequence variant, non coding transcript variant, stop gained
rs786205644	TGTTGGCCCT>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs878853351	G>A	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1560870755	AT>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1578860254	->GC	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1578860322	T>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017703	hsa-miR-335-5p	Microarray	18185580
MIRT616650	hsa-miR-6514-5p	HITS-CLIP	22927820
MIRT616649	hsa-miR-1304-3p	HITS-CLIP	22927820
MIRT616648	hsa-miR-143-3p	HITS-CLIP	22927820
MIRT616647	hsa-miR-4770	HITS-CLIP	22927820
MIRT616646	hsa-miR-6088	HITS-CLIP	22927820
MIRT616645	hsa-miR-4708-5p	HITS-CLIP	22927820
MIRT616644	hsa-miR-1273f	HITS-CLIP	22927820
MIRT616643	hsa-miR-4534	HITS-CLIP	22927820
MIRT616642	hsa-miR-8082	HITS-CLIP	22927820
MIRT616641	hsa-miR-1289	HITS-CLIP	22927820
MIRT616640	hsa-miR-4294	HITS-CLIP	22927820
MIRT667553	hsa-miR-6501-5p	HITS-CLIP	22927820
MIRT667552	hsa-miR-4423-5p	HITS-CLIP	22927820
MIRT616639	hsa-miR-3198	HITS-CLIP	22927820
MIRT616638	hsa-miR-4309	HITS-CLIP	22927820
MIRT616637	hsa-miR-744-3p	HITS-CLIP	22927820
MIRT616636	hsa-miR-8055	HITS-CLIP	22927820
MIRT616635	hsa-miR-129-5p	HITS-CLIP	22927820
MIRT616634	hsa-miR-1285-5p	HITS-CLIP	22927820
MIRT616650	hsa-miR-6514-5p	HITS-CLIP	23824327
MIRT616649	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT616648	hsa-miR-143-3p	HITS-CLIP	23824327
MIRT616647	hsa-miR-4770	HITS-CLIP	23824327
MIRT616646	hsa-miR-6088	HITS-CLIP	23824327
MIRT616645	hsa-miR-4708-5p	HITS-CLIP	23824327
MIRT616644	hsa-miR-1273f	HITS-CLIP	23824327
MIRT616643	hsa-miR-4534	HITS-CLIP	23824327
MIRT616642	hsa-miR-8082	HITS-CLIP	23824327
MIRT616641	hsa-miR-1289	HITS-CLIP	23824327
MIRT616640	hsa-miR-4294	HITS-CLIP	23824327
MIRT667553	hsa-miR-6501-5p	HITS-CLIP	23824327
MIRT667552	hsa-miR-4423-5p	HITS-CLIP	23824327
MIRT616639	hsa-miR-3198	HITS-CLIP	23824327
MIRT616638	hsa-miR-4309	HITS-CLIP	23824327
MIRT616637	hsa-miR-744-3p	HITS-CLIP	23824327
MIRT616636	hsa-miR-8055	HITS-CLIP	23824327
MIRT616635	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT616634	hsa-miR-1285-5p	HITS-CLIP	23824327
MIRT656653	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT656652	hsa-miR-1264	HITS-CLIP	23824327
MIRT656651	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT656649	hsa-miR-3671	HITS-CLIP	23824327
MIRT656650	hsa-miR-607	HITS-CLIP	23824327
MIRT667566	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT667565	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT667564	hsa-miR-5693	HITS-CLIP	23824327
MIRT667563	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT667562	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT667561	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT667560	hsa-miR-3135b	HITS-CLIP	23824327
MIRT667559	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT667558	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT667557	hsa-miR-6722-5p	HITS-CLIP	23824327
MIRT667556	hsa-miR-3652	HITS-CLIP	23824327
MIRT667555	hsa-miR-4430	HITS-CLIP	23824327
MIRT667554	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT667553	hsa-miR-6501-5p	HITS-CLIP	23824327
MIRT667552	hsa-miR-4423-5p	HITS-CLIP	23824327
MIRT667551	hsa-miR-6509-3p	HITS-CLIP	23824327
MIRT667550	hsa-miR-4436b-5p	HITS-CLIP	23824327
MIRT616637	hsa-miR-744-3p	HITS-CLIP	23824327
MIRT667549	hsa-miR-3692-3p	HITS-CLIP	23824327
MIRT616634	hsa-miR-1285-5p	HITS-CLIP	23824327
MIRT667548	hsa-miR-5698	HITS-CLIP	23824327
MIRT656653	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT656652	hsa-miR-1264	HITS-CLIP	23824327
MIRT656651	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT656649	hsa-miR-3671	HITS-CLIP	23824327
MIRT656650	hsa-miR-607	HITS-CLIP	23824327
MIRT616650	hsa-miR-6514-5p	HITS-CLIP	23824327
MIRT616649	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT616648	hsa-miR-143-3p	HITS-CLIP	23824327
MIRT616647	hsa-miR-4770	HITS-CLIP	23824327
MIRT616646	hsa-miR-6088	HITS-CLIP	23824327
MIRT616645	hsa-miR-4708-5p	HITS-CLIP	23824327
MIRT616644	hsa-miR-1273f	HITS-CLIP	23824327
MIRT616643	hsa-miR-4534	HITS-CLIP	23824327
MIRT616642	hsa-miR-8082	HITS-CLIP	23824327
MIRT616641	hsa-miR-1289	HITS-CLIP	23824327
MIRT616640	hsa-miR-4294	HITS-CLIP	23824327
MIRT616639	hsa-miR-3198	HITS-CLIP	23824327
MIRT616638	hsa-miR-4309	HITS-CLIP	23824327
MIRT616637	hsa-miR-744-3p	HITS-CLIP	23824327
MIRT616636	hsa-miR-8055	HITS-CLIP	23824327
MIRT616635	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT616634	hsa-miR-1285-5p	HITS-CLIP	23824327
MIRT442048	hsa-miR-551b-5p	PAR-CLIP	22100165
MIRT442047	hsa-miR-628-3p	PAR-CLIP	22100165
MIRT442045	hsa-miR-5571-3p	PAR-CLIP	22100165
MIRT442046	hsa-miR-7975	PAR-CLIP	22100165
MIRT442044	hsa-miR-384	PAR-CLIP	22100165
MIRT616644	hsa-miR-1273f	HITS-CLIP	27418678
MIRT616634	hsa-miR-1285-5p	HITS-CLIP	27418678
MIRT616641	hsa-miR-1289	HITS-CLIP	27418678
MIRT616635	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT616649	hsa-miR-1304-3p	HITS-CLIP	27418678
MIRT616648	hsa-miR-143-3p	HITS-CLIP	27418678
MIRT616639	hsa-miR-3198	HITS-CLIP	27418678
MIRT616640	hsa-miR-4294	HITS-CLIP	27418678
MIRT616638	hsa-miR-4309	HITS-CLIP	27418678
MIRT616643	hsa-miR-4534	HITS-CLIP	27418678
MIRT616645	hsa-miR-4708-5p	HITS-CLIP	27418678
MIRT616647	hsa-miR-4770	HITS-CLIP	27418678
MIRT616646	hsa-miR-6088	HITS-CLIP	27418678
MIRT616650	hsa-miR-6514-5p	HITS-CLIP	27418678
MIRT616637	hsa-miR-744-3p	HITS-CLIP	27418678
MIRT616636	hsa-miR-8055	HITS-CLIP	27418678
MIRT616642	hsa-miR-8082	HITS-CLIP	27418678
MIRT616650	hsa-miR-6514-5p	HITS-CLIP	22927820
MIRT616649	hsa-miR-1304-3p	HITS-CLIP	22927820
MIRT616648	hsa-miR-143-3p	HITS-CLIP	22927820
MIRT616647	hsa-miR-4770	HITS-CLIP	22927820
MIRT616646	hsa-miR-6088	HITS-CLIP	22927820
MIRT616645	hsa-miR-4708-5p	HITS-CLIP	22927820
MIRT616644	hsa-miR-1273f	HITS-CLIP	22927820
MIRT616643	hsa-miR-4534	HITS-CLIP	22927820
MIRT616642	hsa-miR-8082	HITS-CLIP	22927820
MIRT616641	hsa-miR-1289	HITS-CLIP	22927820
MIRT616640	hsa-miR-4294	HITS-CLIP	22927820
MIRT667553	hsa-miR-6501-5p	HITS-CLIP	22927820
MIRT667552	hsa-miR-4423-5p	HITS-CLIP	22927820
MIRT616639	hsa-miR-3198	HITS-CLIP	22927820
MIRT616638	hsa-miR-4309	HITS-CLIP	22927820
MIRT616637	hsa-miR-744-3p	HITS-CLIP	22927820
MIRT616636	hsa-miR-8055	HITS-CLIP	22927820
MIRT616635	hsa-miR-129-5p	HITS-CLIP	22927820
MIRT616634	hsa-miR-1285-5p	HITS-CLIP	22927820
MIRT616650	hsa-miR-6514-5p	HITS-CLIP	23824327
MIRT616649	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT616648	hsa-miR-143-3p	HITS-CLIP	23824327
MIRT616647	hsa-miR-4770	HITS-CLIP	23824327
MIRT616646	hsa-miR-6088	HITS-CLIP	23824327
MIRT616645	hsa-miR-4708-5p	HITS-CLIP	23824327
MIRT616644	hsa-miR-1273f	HITS-CLIP	23824327
MIRT616643	hsa-miR-4534	HITS-CLIP	23824327
MIRT616642	hsa-miR-8082	HITS-CLIP	23824327
MIRT616641	hsa-miR-1289	HITS-CLIP	23824327
MIRT616640	hsa-miR-4294	HITS-CLIP	23824327
MIRT667553	hsa-miR-6501-5p	HITS-CLIP	23824327
MIRT667552	hsa-miR-4423-5p	HITS-CLIP	23824327
MIRT616639	hsa-miR-3198	HITS-CLIP	23824327
MIRT616638	hsa-miR-4309	HITS-CLIP	23824327
MIRT616637	hsa-miR-744-3p	HITS-CLIP	23824327
MIRT616636	hsa-miR-8055	HITS-CLIP	23824327
MIRT616635	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT616634	hsa-miR-1285-5p	HITS-CLIP	23824327
MIRT656653	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT656652	hsa-miR-1264	HITS-CLIP	23824327
MIRT656651	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT656649	hsa-miR-3671	HITS-CLIP	23824327
MIRT656650	hsa-miR-607	HITS-CLIP	23824327
MIRT667566	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT667565	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT667564	hsa-miR-5693	HITS-CLIP	23824327
MIRT667563	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT667562	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT667561	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT667560	hsa-miR-3135b	HITS-CLIP	23824327
MIRT667559	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT667558	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT667557	hsa-miR-6722-5p	HITS-CLIP	23824327
MIRT667556	hsa-miR-3652	HITS-CLIP	23824327
MIRT667555	hsa-miR-4430	HITS-CLIP	23824327
MIRT667554	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT667553	hsa-miR-6501-5p	HITS-CLIP	23824327
MIRT667552	hsa-miR-4423-5p	HITS-CLIP	23824327
MIRT667551	hsa-miR-6509-3p	HITS-CLIP	23824327
MIRT667550	hsa-miR-4436b-5p	HITS-CLIP	23824327
MIRT616637	hsa-miR-744-3p	HITS-CLIP	23824327
MIRT667549	hsa-miR-3692-3p	HITS-CLIP	23824327
MIRT616634	hsa-miR-1285-5p	HITS-CLIP	23824327
MIRT667548	hsa-miR-5698	HITS-CLIP	23824327
MIRT656653	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT656652	hsa-miR-1264	HITS-CLIP	23824327
MIRT656651	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT656649	hsa-miR-3671	HITS-CLIP	23824327
MIRT656650	hsa-miR-607	HITS-CLIP	23824327
MIRT616650	hsa-miR-6514-5p	HITS-CLIP	23824327
MIRT616649	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT616648	hsa-miR-143-3p	HITS-CLIP	23824327
MIRT616647	hsa-miR-4770	HITS-CLIP	23824327
MIRT616646	hsa-miR-6088	HITS-CLIP	23824327
MIRT616645	hsa-miR-4708-5p	HITS-CLIP	23824327
MIRT616644	hsa-miR-1273f	HITS-CLIP	23824327
MIRT616643	hsa-miR-4534	HITS-CLIP	23824327
MIRT616642	hsa-miR-8082	HITS-CLIP	23824327
MIRT616641	hsa-miR-1289	HITS-CLIP	23824327
MIRT616640	hsa-miR-4294	HITS-CLIP	23824327
MIRT616639	hsa-miR-3198	HITS-CLIP	23824327
MIRT616638	hsa-miR-4309	HITS-CLIP	23824327
MIRT616637	hsa-miR-744-3p	HITS-CLIP	23824327
MIRT616636	hsa-miR-8055	HITS-CLIP	23824327
MIRT616635	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT616634	hsa-miR-1285-5p	HITS-CLIP	23824327
MIRT442048	hsa-miR-551b-5p	PAR-CLIP	22100165
MIRT442047	hsa-miR-628-3p	PAR-CLIP	22100165
MIRT442045	hsa-miR-5571-3p	PAR-CLIP	22100165
MIRT442046	hsa-miR-7975	PAR-CLIP	22100165
MIRT442044	hsa-miR-384	PAR-CLIP	22100165
MIRT1117178	hsa-miR-1193	CLIP-seq
MIRT1117179	hsa-miR-1281	CLIP-seq
MIRT1117180	hsa-miR-132	CLIP-seq
MIRT1117181	hsa-miR-139-5p	CLIP-seq
MIRT1117182	hsa-miR-143	CLIP-seq
MIRT1117183	hsa-miR-144	CLIP-seq
MIRT1117184	hsa-miR-1470	CLIP-seq
MIRT1117185	hsa-miR-181a	CLIP-seq
MIRT1117186	hsa-miR-181b	CLIP-seq
MIRT1117187	hsa-miR-181c	CLIP-seq
MIRT1117188	hsa-miR-181d	CLIP-seq
MIRT1117189	hsa-miR-190	CLIP-seq
MIRT1117190	hsa-miR-190b	CLIP-seq
MIRT1117191	hsa-miR-1976	CLIP-seq
MIRT1117192	hsa-miR-205	CLIP-seq
MIRT1117193	hsa-miR-212	CLIP-seq
MIRT1117194	hsa-miR-2392	CLIP-seq
MIRT1117195	hsa-miR-3148	CLIP-seq
MIRT1117196	hsa-miR-3152-3p	CLIP-seq
MIRT1117197	hsa-miR-3156-5p	CLIP-seq
MIRT1117198	hsa-miR-3161	CLIP-seq
MIRT1117199	hsa-miR-3170	CLIP-seq
MIRT1117200	hsa-miR-3195	CLIP-seq
MIRT1117201	hsa-miR-3609	CLIP-seq
MIRT1117202	hsa-miR-3667-5p	CLIP-seq
MIRT1117203	hsa-miR-3688-3p	CLIP-seq
MIRT1117204	hsa-miR-3689a-5p	CLIP-seq
MIRT1117205	hsa-miR-3689b	CLIP-seq
MIRT1117206	hsa-miR-3689e	CLIP-seq
MIRT1117207	hsa-miR-3689f	CLIP-seq
MIRT1117208	hsa-miR-3941	CLIP-seq
MIRT1117209	hsa-miR-4262	CLIP-seq
MIRT1117210	hsa-miR-4282	CLIP-seq
MIRT1117211	hsa-miR-4302	CLIP-seq
MIRT1117212	hsa-miR-4438	CLIP-seq
MIRT1117213	hsa-miR-4469	CLIP-seq
MIRT1117214	hsa-miR-4659a-3p	CLIP-seq
MIRT1117215	hsa-miR-4659b-3p	CLIP-seq
MIRT1117216	hsa-miR-466	CLIP-seq
MIRT1117217	hsa-miR-4662a-5p	CLIP-seq
MIRT1117218	hsa-miR-4667-3p	CLIP-seq
MIRT1117219	hsa-miR-4672	CLIP-seq
MIRT1117220	hsa-miR-4676-5p	CLIP-seq
MIRT1117221	hsa-miR-4704-3p	CLIP-seq
MIRT1117222	hsa-miR-4778-3p	CLIP-seq
MIRT1117223	hsa-miR-491-3p	CLIP-seq
MIRT1117224	hsa-miR-5095	CLIP-seq
MIRT1117225	hsa-miR-5096	CLIP-seq
MIRT1117226	hsa-miR-548ah	CLIP-seq
MIRT1117227	hsa-miR-548t	CLIP-seq
MIRT1117228	hsa-miR-575	CLIP-seq
MIRT1117229	hsa-miR-944	CLIP-seq
MIRT1117179	hsa-miR-1281	CLIP-seq
MIRT2033089	hsa-miR-1297	CLIP-seq
MIRT2033090	hsa-miR-1303	CLIP-seq
MIRT1117184	hsa-miR-1470	CLIP-seq
MIRT2033091	hsa-miR-26a	CLIP-seq
MIRT2033092	hsa-miR-26b	CLIP-seq
MIRT2033093	hsa-miR-3140-3p	CLIP-seq
MIRT1117199	hsa-miR-3170	CLIP-seq
MIRT2033094	hsa-miR-34a	CLIP-seq
MIRT2033095	hsa-miR-34c-5p	CLIP-seq
MIRT2033096	hsa-miR-3692	CLIP-seq
MIRT2033097	hsa-miR-375	CLIP-seq
MIRT1117208	hsa-miR-3941	CLIP-seq
MIRT2033098	hsa-miR-3942-3p	CLIP-seq
MIRT2033099	hsa-miR-4290	CLIP-seq
MIRT2033100	hsa-miR-4465	CLIP-seq
MIRT1117213	hsa-miR-4469	CLIP-seq
MIRT2033101	hsa-miR-449a	CLIP-seq
MIRT2033102	hsa-miR-449b	CLIP-seq
MIRT2033103	hsa-miR-450b-5p	CLIP-seq
MIRT2033104	hsa-miR-4517	CLIP-seq
MIRT1117216	hsa-miR-466	CLIP-seq
MIRT1117218	hsa-miR-4667-3p	CLIP-seq
MIRT1117219	hsa-miR-4672	CLIP-seq
MIRT2033105	hsa-miR-4696	CLIP-seq
MIRT2033106	hsa-miR-4776-3p	CLIP-seq
MIRT2033107	hsa-miR-498	CLIP-seq
MIRT2033108	hsa-miR-501-5p	CLIP-seq
MIRT2033109	hsa-miR-507	CLIP-seq
MIRT2033110	hsa-miR-548b-3p	CLIP-seq
MIRT2033111	hsa-miR-557	CLIP-seq
MIRT2033112	hsa-miR-890	CLIP-seq
MIRT2263410	hsa-miR-105	CLIP-seq
MIRT2263411	hsa-miR-106a	CLIP-seq
MIRT2263412	hsa-miR-106b	CLIP-seq
MIRT1117178	hsa-miR-1193	CLIP-seq
MIRT2263413	hsa-miR-1260	CLIP-seq
MIRT2263414	hsa-miR-1260b	CLIP-seq
MIRT2263415	hsa-miR-1263	CLIP-seq
MIRT2263416	hsa-miR-1279	CLIP-seq
MIRT1117179	hsa-miR-1281	CLIP-seq
MIRT2033089	hsa-miR-1297	CLIP-seq
MIRT2263417	hsa-miR-137	CLIP-seq
MIRT2263418	hsa-miR-140-3p	CLIP-seq
MIRT1117182	hsa-miR-143	CLIP-seq
MIRT2263419	hsa-miR-145	CLIP-seq
MIRT1117184	hsa-miR-1470	CLIP-seq
MIRT2263420	hsa-miR-150	CLIP-seq
MIRT2263421	hsa-miR-17	CLIP-seq
MIRT2263422	hsa-miR-188-3p	CLIP-seq
MIRT1117191	hsa-miR-1976	CLIP-seq
MIRT2263423	hsa-miR-20a	CLIP-seq
MIRT2263424	hsa-miR-20b	CLIP-seq
MIRT2263425	hsa-miR-2276	CLIP-seq
MIRT2263426	hsa-miR-23a	CLIP-seq
MIRT2263427	hsa-miR-23b	CLIP-seq
MIRT2263428	hsa-miR-23c	CLIP-seq
MIRT2033091	hsa-miR-26a	CLIP-seq
MIRT2033092	hsa-miR-26b	CLIP-seq
MIRT2263429	hsa-miR-302a	CLIP-seq
MIRT2263430	hsa-miR-302b	CLIP-seq
MIRT2263431	hsa-miR-302c	CLIP-seq
MIRT2263432	hsa-miR-302d	CLIP-seq
MIRT2263433	hsa-miR-302e	CLIP-seq
MIRT2263434	hsa-miR-3065-3p	CLIP-seq
MIRT2263435	hsa-miR-3065-5p	CLIP-seq
MIRT2263436	hsa-miR-3120-5p	CLIP-seq
MIRT2263437	hsa-miR-3156-3p	CLIP-seq
MIRT1117199	hsa-miR-3170	CLIP-seq
MIRT2263438	hsa-miR-3189-3p	CLIP-seq
MIRT2263439	hsa-miR-329	CLIP-seq
MIRT2263440	hsa-miR-362-3p	CLIP-seq
MIRT2263441	hsa-miR-3646	CLIP-seq
MIRT2263442	hsa-miR-372	CLIP-seq
MIRT2263443	hsa-miR-373	CLIP-seq
MIRT2263444	hsa-miR-3907	CLIP-seq
MIRT2263445	hsa-miR-3938	CLIP-seq
MIRT1117208	hsa-miR-3941	CLIP-seq
MIRT2263446	hsa-miR-4279	CLIP-seq
MIRT1117210	hsa-miR-4282	CLIP-seq
MIRT2263447	hsa-miR-4307	CLIP-seq
MIRT2263448	hsa-miR-4452	CLIP-seq
MIRT2263449	hsa-miR-4464	CLIP-seq
MIRT2033100	hsa-miR-4465	CLIP-seq
MIRT1117213	hsa-miR-4469	CLIP-seq
MIRT2263450	hsa-miR-4652-3p	CLIP-seq
MIRT1117216	hsa-miR-466	CLIP-seq
MIRT1117218	hsa-miR-4667-3p	CLIP-seq
MIRT1117219	hsa-miR-4672	CLIP-seq
MIRT2263451	hsa-miR-4680-3p	CLIP-seq
MIRT2263452	hsa-miR-4722-3p	CLIP-seq
MIRT2263453	hsa-miR-4748	CLIP-seq
MIRT2263454	hsa-miR-4757-5p	CLIP-seq
MIRT2033107	hsa-miR-498	CLIP-seq
MIRT2263455	hsa-miR-512-3p	CLIP-seq
MIRT2263456	hsa-miR-512-5p	CLIP-seq
MIRT2263457	hsa-miR-519d	CLIP-seq
MIRT2263458	hsa-miR-520a-3p	CLIP-seq
MIRT2263459	hsa-miR-520b	CLIP-seq
MIRT2263460	hsa-miR-520c-3p	CLIP-seq
MIRT2263461	hsa-miR-520d-3p	CLIP-seq
MIRT2263462	hsa-miR-520e	CLIP-seq
MIRT2263463	hsa-miR-520g	CLIP-seq
MIRT2263464	hsa-miR-520h	CLIP-seq
MIRT2263465	hsa-miR-603	CLIP-seq
MIRT2263466	hsa-miR-628-5p	CLIP-seq
MIRT2263467	hsa-miR-888	CLIP-seq
MIRT2263468	hsa-miR-93	CLIP-seq
MIRT2033094	hsa-miR-34a	CLIP-seq
MIRT2033095	hsa-miR-34c-5p	CLIP-seq
MIRT1117208	hsa-miR-3941	CLIP-seq
MIRT2033101	hsa-miR-449a	CLIP-seq
MIRT2033102	hsa-miR-449b	CLIP-seq
MIRT1117216	hsa-miR-466	CLIP-seq
MIRT1117219	hsa-miR-4672	CLIP-seq
MIRT1117182	hsa-miR-143	CLIP-seq
MIRT1117214	hsa-miR-4659a-3p	CLIP-seq
MIRT1117215	hsa-miR-4659b-3p	CLIP-seq
MIRT1117222	hsa-miR-4778-3p	CLIP-seq
MIRT2453276	hsa-miR-122	CLIP-seq
MIRT1117182	hsa-miR-143	CLIP-seq
MIRT2453277	hsa-miR-3149	CLIP-seq
MIRT1117199	hsa-miR-3170	CLIP-seq
MIRT2453278	hsa-miR-411	CLIP-seq
MIRT2453279	hsa-miR-4735-5p	CLIP-seq
MIRT2453280	hsa-miR-4775	CLIP-seq
MIRT2453281	hsa-miR-590-3p	CLIP-seq
MIRT2453277	hsa-miR-3149	CLIP-seq
MIRT2453278	hsa-miR-411	CLIP-seq
MIRT2453279	hsa-miR-4735-5p	CLIP-seq
MIRT2453280	hsa-miR-4775	CLIP-seq
MIRT2453281	hsa-miR-590-3p	CLIP-seq
MIRT1117178	hsa-miR-1193	CLIP-seq
MIRT2453277	hsa-miR-3149	CLIP-seq
MIRT1117199	hsa-miR-3170	CLIP-seq
MIRT2263444	hsa-miR-3907	CLIP-seq
MIRT2453278	hsa-miR-411	CLIP-seq
MIRT2263449	hsa-miR-4464	CLIP-seq
MIRT2453279	hsa-miR-4735-5p	CLIP-seq
MIRT2263453	hsa-miR-4748	CLIP-seq
MIRT2453280	hsa-miR-4775	CLIP-seq
MIRT2033106	hsa-miR-4776-3p	CLIP-seq
MIRT2562818	hsa-miR-548k	CLIP-seq
MIRT2453281	hsa-miR-590-3p	CLIP-seq
MIRT1117178	hsa-miR-1193	CLIP-seq
MIRT2453276	hsa-miR-122	CLIP-seq
MIRT2453277	hsa-miR-3149	CLIP-seq
MIRT1117199	hsa-miR-3170	CLIP-seq
MIRT2684117	hsa-miR-3653	CLIP-seq
MIRT2684118	hsa-miR-3658	CLIP-seq
MIRT2263444	hsa-miR-3907	CLIP-seq
MIRT2453278	hsa-miR-411	CLIP-seq
MIRT2263449	hsa-miR-4464	CLIP-seq
MIRT2684119	hsa-miR-4474-3p	CLIP-seq
MIRT2453279	hsa-miR-4735-5p	CLIP-seq
MIRT2263453	hsa-miR-4748	CLIP-seq
MIRT2453280	hsa-miR-4775	CLIP-seq
MIRT2033106	hsa-miR-4776-3p	CLIP-seq
MIRT2562818	hsa-miR-548k	CLIP-seq
MIRT2684120	hsa-miR-579	CLIP-seq
MIRT2453281	hsa-miR-590-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001523	Process	Retinoid metabolic process	IEA
GO:0001523	Process	Retinoid metabolic process	TAS
GO:0001972	Function	Retinoic acid binding	IEA
GO:0005515	Function	Protein binding	IPI	28514442, 32296183, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005771	Component	Multivesicular body	IEA
GO:0005771	Component	Multivesicular body	ISS
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005791	Component	Rough endoplasmic reticulum	IBA
GO:0005791	Component	Rough endoplasmic reticulum	IEA
GO:0005791	Component	Rough endoplasmic reticulum	ISS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006776	Process	Vitamin A metabolic process	IBA
GO:0006776	Process	Vitamin A metabolic process	IEA
GO:0006776	Process	Vitamin A metabolic process	ISS
GO:0007601	Process	Visual perception	IEA
GO:0008374	Function	O-acyltransferase activity	IEA
GO:0009617	Process	Response to bacterium	IEA
GO:0016020	Component	Membrane	IEA
GO:0016416	Function	O-palmitoyltransferase activity	IEA
GO:0016416	Function	O-palmitoyltransferase activity	TAS
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0016746	Function	Acyltransferase activity	TAS	9920938
GO:0019841	Function	Retinol binding	IEA
GO:0019915	Process	Lipid storage	IEA
GO:0032370	Process	Positive regulation of lipid transport	IEA
GO:0032526	Process	Response to retinoic acid	IEA
GO:0033189	Process	Response to vitamin A	IEA
GO:0042572	Process	Retinol metabolic process	IBA
GO:0042572	Process	Retinol metabolic process	IDA	10819989
GO:0042572	Process	Retinol metabolic process	IEA
GO:0042572	Process	Retinol metabolic process	IEA
GO:0047173	Function	Phosphatidylcholine-retinol O-acyltransferase activity	IBA
GO:0047173	Function	Phosphatidylcholine-retinol O-acyltransferase activity	IDA	10819989
GO:0047173	Function	Phosphatidylcholine-retinol O-acyltransferase activity	IEA
GO:0047173	Function	Phosphatidylcholine-retinol O-acyltransferase activity	TAS
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	ISS
GO:1990830	Process	Cellular response to leukemia inhibitory factor	IEA

Other IDs

• MIM: 604863
• HGNC: 6685
• e!Ensembl: ENSG00000121207

Protein

• UniProt ID: O95237
• Protein name: Lecithin retinol acyltransferase (EC 2.3.1.135) (Phosphatidylcholine--retinol O-acyltransferase)
• Protein function: Transfers the acyl group from the sn-1 position of phosphatidylcholine to all-trans retinol, producing all-trans retinyl esters (PubMed:9920938). Retinyl esters are storage forms of vitamin A (Probable). LRAT plays a critical role in vision (Pro
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04970	LRAT	43 → 174	Lecithin retinol acyltransferase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Hepatic stellate cells and endothelial cells (at protein level). Found at high levels in testis and liver, followed by retinal pigment epithelium, small intestine, prostate, pancreas and colon. Low expression observed in brain. In feta
• Sequence:

  MKNPMLEVVSLLLEKLLLISNFTLFSSGAAGEDKGRNSFYETSSFHRGDVLEVPRTHLTH
  YGIYLGDNRVAHMMPDILLALTDDMGRTQKVVSNKRLILGVIVKVASIRVDTVEDFAYGA
  NILVNHLDESLQKKALLNEEVARRAEKLLGFTPYSLLWNNCEHFVTYCRYGTPISPQSDK
  FCETVKIIIRDQRSVLASAVLGLASIVCTGLVSYTTLPAIFIPFFLWMAG

• Sequence length: 230

Pathways

KEGG:

Retinol metabolism
Metabolic pathways
Vitamin digestion and absorption

Reactome:

Retinoid cycle disease events
The canonical retinoid cycle in rods (twilight vision)
Retinoid metabolism and transport

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
Abnormality of the eye	Pathogenic	rs2111032416	RCV001814350	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive retinitis pigmentosa	Likely pathogenic; Pathogenic	rs786205644, rs1732840025	RCV001257788 RCV001257787	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber congenital amaurosis	Pathogenic; Likely pathogenic	rs527236079, rs2529971841, rs768255532	RCV005431484 RCV003236542 RCV000826116	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber congenital amaurosis 1	Likely pathogenic; Pathogenic	rs527236079	RCV000987482	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber congenital amaurosis 14	Pathogenic; Likely pathogenic	rs780578479, rs2111032416, rs1560870755, rs779996159, rs1384466058, rs1732848653, rs1732935012, rs1732840025	RCV001526725 RCV006261999 RCV000005663 RCV005394622 RCV001257119 RCV001257116 RCV001257118 RCV004762029	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LRAT-related disorder	Likely pathogenic; Pathogenic	rs1560870755	RCV003390644	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Pathogenic; Likely pathogenic	rs2111031951, rs878853351, rs765063151	RCV004815523 RCV000225673 RCV004817808	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED	Pathogenic	rs104893848, rs761717462	RCV000005661 RCV000005662	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa	Pathogenic; Likely pathogenic	rs527236079, rs1578860254, rs779996159	RCV000132653 RCV000787848 RCV005394622	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED	Likely pathogenic; Pathogenic	rs1560870755	RCV000005664	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMAUROSIS CONGENITA OF LEBER, TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast ductal adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOEMBOLIC STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYE DISEASES, HEREDITARY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPTIC ATROPHY, HEREDITARY, LEBER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa, Recessive	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rod-cone dystrophy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
STARGARDT DISEASE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOPHILIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitamin A deficiency	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer`s Disease	Alzheimer disease	GWASDB_DG	21460841		★☆☆☆☆ Found in Text Mining only
Amaurosis congenita of Leber, type 1	Leber congenital amaurosis	BEFREE	17438524, 18055816, 19339306, 21555576, 24664772		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm	Bladder Neoplasm	LHGDN	15161698		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	CTD_human_DG	30097691		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Colonic Polyps	Colonic polyps	Pubtator	25260806	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24608339, 25260806	Associate	★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Amaurosis of Retinal Origin	Dysgenesis Neuroepithelialis Retinae	CTD_human_DG	19339306		★☆☆☆☆ Found in Text Mining only
Congenital blindness	Congenital blindness	HPO_DG			★☆☆☆☆ 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
Cutaneous Melanoma	Melanoma	BEFREE	12419830		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	11133845		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Eye Diseases, Hereditary	Eye Diseases	CTD_human_DG	16968212		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ 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	17011878, 17438524, 19339306, 21555576, 24664772		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber Congenital Amaurosis	Leber Congenital Amaurosis	ORPHANET_DG	17011878, 25685757		★★★★☆ 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	Pubtator	17438524, 18936139	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber Congenital Amaurosis	Leber Congenital Amaurosis	CTD_human_DG	19339306		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber Congenital Amaurosis	Leber Congenital Amaurosis	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber Congenital Amaurosis 14	Leber Congenital Amaurosis	UNIPROT_DG	11381255, 17011878, 18055821		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber Congenital Amaurosis 14	Leber Congenital Amaurosis	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber Congenital Amaurosis 14	Leber Congenital Amaurosis	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber Congenital Amaurosis 14	Leber Congenital Amaurosis	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LEBER CONGENITAL AMAUROSIS 9 (disorder)	Leber Congenital Amaurosis	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	32701996	Associate	★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	HPO_DG			★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	12419830, 25236354		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12419830, 28465473		★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	BEFREE	31561851		★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ 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	Hereditary Leber Optic Atrophy	CTD_human_DG	16250670, 17011878		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pediatric Obesity	Childhood obesity	BEFREE	30967641		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	18652909, 35246070	Associate	★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	18652909		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	22559933		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	21268677, 21555576, 24664772		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Retinal Dystrophy, Early Onset Severe	Retinal Dystrophy	BEFREE	11381255, 18055820		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophy, Early Onset Severe	Retinal Dystrophy	ORPHANET_DG	22570351		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophy, Early-Onset Severe, Lrat-Related	Retinal Dystrophy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal Dystrophy, Early-Onset Severe, Lrat-Related	Retinal Dystrophy	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	ORPHANET_DG	18055821		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa	Retinitis Pigmentosa	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	26656277, 29973277	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	29973277		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED	Retinitis Pigmentosa	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED	Retinitis Pigmentosa	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis punctata albescens (disorder)	Retinitis punctata albescens	BEFREE	22559933		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	18652909		★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe early-childhood-onset retinal dystrophy	Retinal Dystrophy	Orphanet			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	39556054	Associate	★☆☆☆☆ Found in Text Mining only
Vitamin A Deficiency	Vitamin A Deficiency	CTD_human_DG	16174770		★★☆☆☆ Found in Text Mining + Unknown/Other Associations