PRPF4 (pre-mRNA splicing tri-snRNP complex factor PRPF4)

Gene

• Entrez ID: 9128
• Gene name: Pre-mRNA splicing tri-snRNP complex factor PRPF4
• Gene symbol: PRPF4
• Synonyms (NCBI Gene): HPRP4, HPRP4P, PRP4, Prp4p, RP70, SNRNP60
• Disease Acronyms (UniProt): RP70
• Chromosome: 9
• Chromosome location: 9q32
• Summary: The protein encoded by this gene is part of a heteromeric complex that binds U4, U5, and U6 small nuclear RNAs and is involved in pre-mRNA splicing. The encoded protein also is a mitotic checkpoint protein and a regulator of chemoresistance in human ovari

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs587777599	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT173709	hsa-miR-519a-3p	HITS-CLIP	23313552
MIRT173704	hsa-miR-519b-3p	HITS-CLIP	23313552
MIRT173701	hsa-miR-519c-3p	HITS-CLIP	23313552
MIRT173693	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT173694	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT173695	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT173696	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT173714	hsa-miR-302e	HITS-CLIP	23313552
MIRT173697	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT173698	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT173702	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT173705	hsa-miR-520b	HITS-CLIP	23313552
MIRT173706	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT173708	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT173700	hsa-miR-520e	HITS-CLIP	23313552
MIRT684276	hsa-miR-130a-3p	HITS-CLIP	23313552
MIRT684275	hsa-miR-130b-3p	HITS-CLIP	23313552
MIRT684274	hsa-miR-301a-3p	HITS-CLIP	23313552
MIRT684273	hsa-miR-301b-3p	HITS-CLIP	23313552
MIRT684272	hsa-miR-3666	HITS-CLIP	23313552
MIRT684271	hsa-miR-4295	HITS-CLIP	23313552
MIRT684270	hsa-miR-454-3p	HITS-CLIP	23313552
MIRT684269	hsa-miR-6887-3p	HITS-CLIP	23313552
MIRT684268	hsa-miR-1247-3p	HITS-CLIP	23313552
MIRT684267	hsa-miR-4532	HITS-CLIP	23313552
MIRT684266	hsa-miR-4279	HITS-CLIP	23313552
MIRT684265	hsa-miR-498	HITS-CLIP	23313552
MIRT632553	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT632552	hsa-miR-6840-3p	HITS-CLIP	23824327
MIRT632551	hsa-miR-1915-3p	HITS-CLIP	23824327
MIRT632550	hsa-miR-6764-5p	HITS-CLIP	23824327
MIRT632549	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT654729	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT632548	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT654728	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT654727	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT632547	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT632546	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT632545	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT632544	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT258977	hsa-miR-4720-3p	HITS-CLIP	23824327
MIRT654726	hsa-miR-4284	HITS-CLIP	23824327
MIRT632543	hsa-miR-6792-5p	HITS-CLIP	23824327
MIRT632542	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT632541	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT258974	hsa-miR-4503	HITS-CLIP	23824327
MIRT632553	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT632552	hsa-miR-6840-3p	HITS-CLIP	23824327
MIRT632551	hsa-miR-1915-3p	HITS-CLIP	23824327
MIRT632550	hsa-miR-6764-5p	HITS-CLIP	23824327
MIRT632549	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT632548	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT632547	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT632546	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT632545	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT632544	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT258977	hsa-miR-4720-3p	HITS-CLIP	23824327
MIRT632543	hsa-miR-6792-5p	HITS-CLIP	23824327
MIRT632542	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT632541	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT258974	hsa-miR-4503	HITS-CLIP	23824327
MIRT509065	hsa-miR-4438	PAR-CLIP	20371350
MIRT509063	hsa-miR-1273g-3p	PAR-CLIP	20371350
MIRT509062	hsa-miR-4252	PAR-CLIP	20371350
MIRT509061	hsa-miR-5095	PAR-CLIP	20371350
MIRT509060	hsa-miR-7151-3p	PAR-CLIP	20371350
MIRT509059	hsa-miR-6807-5p	PAR-CLIP	20371350
MIRT509058	hsa-miR-619-5p	PAR-CLIP	20371350
MIRT509065	hsa-miR-4438	PAR-CLIP	23446348
MIRT509064	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT509063	hsa-miR-1273g-3p	PAR-CLIP	23446348
MIRT509062	hsa-miR-4252	PAR-CLIP	23446348
MIRT515997	hsa-miR-4425	PAR-CLIP	23446348
MIRT515996	hsa-miR-3147	PAR-CLIP	23446348
MIRT509061	hsa-miR-5095	PAR-CLIP	23446348
MIRT509060	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT509059	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT515995	hsa-miR-450b-3p	PAR-CLIP	23446348
MIRT515994	hsa-miR-769-3p	PAR-CLIP	23446348
MIRT515993	hsa-miR-6728-5p	PAR-CLIP	23446348
MIRT515992	hsa-miR-5089-5p	PAR-CLIP	23446348
MIRT515991	hsa-miR-6513-5p	PAR-CLIP	23446348
MIRT509058	hsa-miR-619-5p	PAR-CLIP	23446348
MIRT509065	hsa-miR-4438	PAR-CLIP	23446348
MIRT509064	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT509063	hsa-miR-1273g-3p	PAR-CLIP	23446348
MIRT509062	hsa-miR-4252	PAR-CLIP	23446348
MIRT509061	hsa-miR-5095	PAR-CLIP	23446348
MIRT509060	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT509059	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT509058	hsa-miR-619-5p	PAR-CLIP	23446348
MIRT449610	hsa-miR-6758-5p	PAR-CLIP	22100165
MIRT449608	hsa-miR-6856-5p	PAR-CLIP	22100165
MIRT449609	hsa-miR-6736-3p	PAR-CLIP	22100165
MIRT449607	hsa-miR-655-5p	PAR-CLIP	22100165
MIRT364384	hsa-miR-377-5p	PAR-CLIP	22100165
MIRT364391	hsa-miR-6086	PAR-CLIP	22100165
MIRT449606	hsa-miR-1303	PAR-CLIP	22100165
MIRT173692	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT173688	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT173692	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT173687	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT173699	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT173690	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT173707	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT173688	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT173709	hsa-miR-519a-3p	HITS-CLIP	23313552
MIRT173704	hsa-miR-519b-3p	HITS-CLIP	23313552
MIRT173701	hsa-miR-519c-3p	HITS-CLIP	23313552
MIRT173693	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT173694	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT173695	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT173696	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT173714	hsa-miR-302e	HITS-CLIP	23313552
MIRT173697	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT173698	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT173702	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT173705	hsa-miR-520b	HITS-CLIP	23313552
MIRT173706	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT173708	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT173700	hsa-miR-520e	HITS-CLIP	23313552
MIRT684276	hsa-miR-130a-3p	HITS-CLIP	23313552
MIRT684275	hsa-miR-130b-3p	HITS-CLIP	23313552
MIRT684274	hsa-miR-301a-3p	HITS-CLIP	23313552
MIRT684273	hsa-miR-301b-3p	HITS-CLIP	23313552
MIRT684272	hsa-miR-3666	HITS-CLIP	23313552
MIRT684271	hsa-miR-4295	HITS-CLIP	23313552
MIRT684270	hsa-miR-454-3p	HITS-CLIP	23313552
MIRT684269	hsa-miR-6887-3p	HITS-CLIP	23313552
MIRT684268	hsa-miR-1247-3p	HITS-CLIP	23313552
MIRT684267	hsa-miR-4532	HITS-CLIP	23313552
MIRT684266	hsa-miR-4279	HITS-CLIP	23313552
MIRT684265	hsa-miR-498	HITS-CLIP	23313552
MIRT632553	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT632552	hsa-miR-6840-3p	HITS-CLIP	23824327
MIRT632551	hsa-miR-1915-3p	HITS-CLIP	23824327
MIRT632550	hsa-miR-6764-5p	HITS-CLIP	23824327
MIRT632549	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT654729	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT632548	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT654728	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT654727	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT632547	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT632546	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT632545	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT632544	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT258977	hsa-miR-4720-3p	HITS-CLIP	23824327
MIRT654726	hsa-miR-4284	HITS-CLIP	23824327
MIRT632543	hsa-miR-6792-5p	HITS-CLIP	23824327
MIRT632542	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT632541	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT258974	hsa-miR-4503	HITS-CLIP	23824327
MIRT632553	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT632552	hsa-miR-6840-3p	HITS-CLIP	23824327
MIRT632551	hsa-miR-1915-3p	HITS-CLIP	23824327
MIRT632550	hsa-miR-6764-5p	HITS-CLIP	23824327
MIRT632549	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT632548	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT632547	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT632546	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT632545	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT632544	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT258977	hsa-miR-4720-3p	HITS-CLIP	23824327
MIRT632543	hsa-miR-6792-5p	HITS-CLIP	23824327
MIRT632542	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT632541	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT258974	hsa-miR-4503	HITS-CLIP	23824327
MIRT509065	hsa-miR-4438	PAR-CLIP	20371350
MIRT509063	hsa-miR-1273g-3p	PAR-CLIP	20371350
MIRT509062	hsa-miR-4252	PAR-CLIP	20371350
MIRT509061	hsa-miR-5095	PAR-CLIP	20371350
MIRT509060	hsa-miR-7151-3p	PAR-CLIP	20371350
MIRT509059	hsa-miR-6807-5p	PAR-CLIP	20371350
MIRT509058	hsa-miR-619-5p	PAR-CLIP	20371350
MIRT509065	hsa-miR-4438	PAR-CLIP	23446348
MIRT509064	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT509063	hsa-miR-1273g-3p	PAR-CLIP	23446348
MIRT509062	hsa-miR-4252	PAR-CLIP	23446348
MIRT515997	hsa-miR-4425	PAR-CLIP	23446348
MIRT515996	hsa-miR-3147	PAR-CLIP	23446348
MIRT509061	hsa-miR-5095	PAR-CLIP	23446348
MIRT509060	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT509059	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT515995	hsa-miR-450b-3p	PAR-CLIP	23446348
MIRT515994	hsa-miR-769-3p	PAR-CLIP	23446348
MIRT515993	hsa-miR-6728-5p	PAR-CLIP	23446348
MIRT515992	hsa-miR-5089-5p	PAR-CLIP	23446348
MIRT515991	hsa-miR-6513-5p	PAR-CLIP	23446348
MIRT509058	hsa-miR-619-5p	PAR-CLIP	23446348
MIRT509065	hsa-miR-4438	PAR-CLIP	23446348
MIRT509064	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT509063	hsa-miR-1273g-3p	PAR-CLIP	23446348
MIRT509062	hsa-miR-4252	PAR-CLIP	23446348
MIRT509061	hsa-miR-5095	PAR-CLIP	23446348
MIRT509060	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT509059	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT509058	hsa-miR-619-5p	PAR-CLIP	23446348
MIRT449610	hsa-miR-6758-5p	PAR-CLIP	22100165
MIRT449608	hsa-miR-6856-5p	PAR-CLIP	22100165
MIRT449609	hsa-miR-6736-3p	PAR-CLIP	22100165
MIRT449607	hsa-miR-655-5p	PAR-CLIP	22100165
MIRT364384	hsa-miR-377-5p	PAR-CLIP	22100165
MIRT364391	hsa-miR-6086	PAR-CLIP	22100165
MIRT449606	hsa-miR-1303	PAR-CLIP	22100165
MIRT1265678	hsa-miR-1179	CLIP-seq
MIRT1265679	hsa-miR-1182	CLIP-seq
MIRT1265680	hsa-miR-1200	CLIP-seq
MIRT1265681	hsa-miR-124	CLIP-seq
MIRT1265682	hsa-miR-1273f	CLIP-seq
MIRT1265683	hsa-miR-1294	CLIP-seq
MIRT1265684	hsa-miR-129-5p	CLIP-seq
MIRT1265685	hsa-miR-1343	CLIP-seq
MIRT1265686	hsa-miR-143	CLIP-seq
MIRT1265687	hsa-miR-2115	CLIP-seq
MIRT1265688	hsa-miR-23a	CLIP-seq
MIRT1265689	hsa-miR-23b	CLIP-seq
MIRT1265690	hsa-miR-23c	CLIP-seq
MIRT1265691	hsa-miR-2467-3p	CLIP-seq
MIRT1265692	hsa-miR-3153	CLIP-seq
MIRT1265693	hsa-miR-3155	CLIP-seq
MIRT1265694	hsa-miR-3155b	CLIP-seq
MIRT1265695	hsa-miR-3157-5p	CLIP-seq
MIRT1265696	hsa-miR-3158-3p	CLIP-seq
MIRT1265697	hsa-miR-3159	CLIP-seq
MIRT1265698	hsa-miR-3180-5p	CLIP-seq
MIRT1265699	hsa-miR-3200-3p	CLIP-seq
MIRT1265700	hsa-miR-3545-3p	CLIP-seq
MIRT1265701	hsa-miR-3616-3p	CLIP-seq
MIRT1265702	hsa-miR-3670	CLIP-seq
MIRT1265703	hsa-miR-3672	CLIP-seq
MIRT1265704	hsa-miR-3678-3p	CLIP-seq
MIRT1265705	hsa-miR-3688-3p	CLIP-seq
MIRT1265706	hsa-miR-3714	CLIP-seq
MIRT1265707	hsa-miR-3910	CLIP-seq
MIRT1265708	hsa-miR-3915	CLIP-seq
MIRT1265709	hsa-miR-3925-3p	CLIP-seq
MIRT1265710	hsa-miR-3926	CLIP-seq
MIRT1265711	hsa-miR-3928	CLIP-seq
MIRT1265712	hsa-miR-3977	CLIP-seq
MIRT1265713	hsa-miR-4310	CLIP-seq
MIRT1265714	hsa-miR-4316	CLIP-seq
MIRT1265715	hsa-miR-4324	CLIP-seq
MIRT1265716	hsa-miR-4423-5p	CLIP-seq
MIRT1265717	hsa-miR-4476	CLIP-seq
MIRT1265718	hsa-miR-4481	CLIP-seq
MIRT1265719	hsa-miR-450b-5p	CLIP-seq
MIRT1265720	hsa-miR-455-5p	CLIP-seq
MIRT1265721	hsa-miR-4635	CLIP-seq
MIRT1265722	hsa-miR-4659a-5p	CLIP-seq
MIRT1265723	hsa-miR-4659b-5p	CLIP-seq
MIRT1265724	hsa-miR-4677-3p	CLIP-seq
MIRT1265725	hsa-miR-4680-5p	CLIP-seq
MIRT1265726	hsa-miR-4685-5p	CLIP-seq
MIRT1265727	hsa-miR-4691-3p	CLIP-seq
MIRT1265728	hsa-miR-4704-3p	CLIP-seq
MIRT1265729	hsa-miR-4708-5p	CLIP-seq
MIRT1265730	hsa-miR-4710	CLIP-seq
MIRT1265731	hsa-miR-4716-5p	CLIP-seq
MIRT1265732	hsa-miR-4721	CLIP-seq
MIRT1265733	hsa-miR-4735-5p	CLIP-seq
MIRT1265734	hsa-miR-4745-5p	CLIP-seq
MIRT1265735	hsa-miR-4758-5p	CLIP-seq
MIRT1265736	hsa-miR-4770	CLIP-seq
MIRT1265737	hsa-miR-4775	CLIP-seq
MIRT1265738	hsa-miR-4776-3p	CLIP-seq
MIRT1265739	hsa-miR-4792	CLIP-seq
MIRT1265740	hsa-miR-4802-3p	CLIP-seq
MIRT1265741	hsa-miR-484	CLIP-seq
MIRT1265742	hsa-miR-506	CLIP-seq
MIRT1265743	hsa-miR-507	CLIP-seq
MIRT1265744	hsa-miR-515-5p	CLIP-seq
MIRT1265745	hsa-miR-520a-5p	CLIP-seq
MIRT1265746	hsa-miR-525-5p	CLIP-seq
MIRT1265747	hsa-miR-544b	CLIP-seq
MIRT1265748	hsa-miR-550a	CLIP-seq
MIRT1265749	hsa-miR-557	CLIP-seq
MIRT1265750	hsa-miR-568	CLIP-seq
MIRT1265751	hsa-miR-576-3p	CLIP-seq
MIRT1265752	hsa-miR-586	CLIP-seq
MIRT1265753	hsa-miR-590-3p	CLIP-seq
MIRT1265754	hsa-miR-604	CLIP-seq
MIRT1265755	hsa-miR-647	CLIP-seq
MIRT1265756	hsa-miR-766	CLIP-seq
MIRT1265757	hsa-miR-934	CLIP-seq
MIRT2078086	hsa-miR-106a	CLIP-seq
MIRT2078087	hsa-miR-106b	CLIP-seq
MIRT1265679	hsa-miR-1182	CLIP-seq
MIRT2078088	hsa-miR-1208	CLIP-seq
MIRT2078089	hsa-miR-1224-3p	CLIP-seq
MIRT2078090	hsa-miR-1234	CLIP-seq
MIRT2078091	hsa-miR-1264	CLIP-seq
MIRT2078092	hsa-miR-1272	CLIP-seq
MIRT1265683	hsa-miR-1294	CLIP-seq
MIRT1265684	hsa-miR-129-5p	CLIP-seq
MIRT2078093	hsa-miR-1322	CLIP-seq
MIRT1265685	hsa-miR-1343	CLIP-seq
MIRT2078094	hsa-miR-150	CLIP-seq
MIRT2078095	hsa-miR-17	CLIP-seq
MIRT2078096	hsa-miR-193a-5p	CLIP-seq
MIRT2078097	hsa-miR-20a	CLIP-seq
MIRT2078098	hsa-miR-20b	CLIP-seq
MIRT1265688	hsa-miR-23a	CLIP-seq
MIRT1265689	hsa-miR-23b	CLIP-seq
MIRT1265690	hsa-miR-23c	CLIP-seq
MIRT2078099	hsa-miR-302a	CLIP-seq
MIRT2078100	hsa-miR-302b	CLIP-seq
MIRT2078101	hsa-miR-302c	CLIP-seq
MIRT2078102	hsa-miR-302d	CLIP-seq
MIRT1265692	hsa-miR-3153	CLIP-seq
MIRT1265697	hsa-miR-3159	CLIP-seq
MIRT2078103	hsa-miR-3170	CLIP-seq
MIRT2078104	hsa-miR-3194-3p	CLIP-seq
MIRT2078105	hsa-miR-33a	CLIP-seq
MIRT2078106	hsa-miR-33b	CLIP-seq
MIRT1265703	hsa-miR-3672	CLIP-seq
MIRT2078107	hsa-miR-372	CLIP-seq
MIRT2078108	hsa-miR-373	CLIP-seq
MIRT2078109	hsa-miR-377	CLIP-seq
MIRT1265708	hsa-miR-3915	CLIP-seq
MIRT1265709	hsa-miR-3925-3p	CLIP-seq
MIRT1265710	hsa-miR-3926	CLIP-seq
MIRT1265711	hsa-miR-3928	CLIP-seq
MIRT2078110	hsa-miR-3973	CLIP-seq
MIRT1265712	hsa-miR-3977	CLIP-seq
MIRT2078111	hsa-miR-412	CLIP-seq
MIRT2078112	hsa-miR-4260	CLIP-seq
MIRT2078113	hsa-miR-431	CLIP-seq
MIRT1265714	hsa-miR-4316	CLIP-seq
MIRT2078114	hsa-miR-4420	CLIP-seq
MIRT1265717	hsa-miR-4476	CLIP-seq
MIRT1265718	hsa-miR-4481	CLIP-seq
MIRT1265724	hsa-miR-4677-3p	CLIP-seq
MIRT1265726	hsa-miR-4685-5p	CLIP-seq
MIRT1265728	hsa-miR-4704-3p	CLIP-seq
MIRT1265734	hsa-miR-4745-5p	CLIP-seq
MIRT2078115	hsa-miR-4778-3p	CLIP-seq
MIRT2078116	hsa-miR-493	CLIP-seq
MIRT1265744	hsa-miR-515-5p	CLIP-seq
MIRT2078117	hsa-miR-519d	CLIP-seq
MIRT2078118	hsa-miR-520g	CLIP-seq
MIRT2078119	hsa-miR-520h	CLIP-seq
MIRT2078120	hsa-miR-548a-5p	CLIP-seq
MIRT2078121	hsa-miR-548ab	CLIP-seq
MIRT2078122	hsa-miR-548ak	CLIP-seq
MIRT2078123	hsa-miR-548b-5p	CLIP-seq
MIRT2078124	hsa-miR-548c-5p	CLIP-seq
MIRT2078125	hsa-miR-548d-5p	CLIP-seq
MIRT2078126	hsa-miR-548h	CLIP-seq
MIRT2078127	hsa-miR-548i	CLIP-seq
MIRT2078128	hsa-miR-548j	CLIP-seq
MIRT2078129	hsa-miR-548t	CLIP-seq
MIRT2078130	hsa-miR-548w	CLIP-seq
MIRT2078131	hsa-miR-548y	CLIP-seq
MIRT2078132	hsa-miR-559	CLIP-seq
MIRT2078133	hsa-miR-562	CLIP-seq
MIRT1265750	hsa-miR-568	CLIP-seq
MIRT1265752	hsa-miR-586	CLIP-seq
MIRT1265754	hsa-miR-604	CLIP-seq
MIRT2078134	hsa-miR-642b	CLIP-seq
MIRT1265755	hsa-miR-647	CLIP-seq
MIRT1265756	hsa-miR-766	CLIP-seq
MIRT2078135	hsa-miR-93	CLIP-seq
MIRT1265757	hsa-miR-934	CLIP-seq
MIRT2078086	hsa-miR-106a	CLIP-seq
MIRT2078087	hsa-miR-106b	CLIP-seq
MIRT1265678	hsa-miR-1179	CLIP-seq
MIRT2078088	hsa-miR-1208	CLIP-seq
MIRT2078089	hsa-miR-1224-3p	CLIP-seq
MIRT2304581	hsa-miR-1260	CLIP-seq
MIRT2304582	hsa-miR-1260b	CLIP-seq
MIRT2078091	hsa-miR-1264	CLIP-seq
MIRT2078092	hsa-miR-1272	CLIP-seq
MIRT2304583	hsa-miR-1280	CLIP-seq
MIRT2304584	hsa-miR-1297	CLIP-seq
MIRT2304585	hsa-miR-1307	CLIP-seq
MIRT2304586	hsa-miR-130a	CLIP-seq
MIRT2304587	hsa-miR-130b	CLIP-seq
MIRT2078093	hsa-miR-1322	CLIP-seq
MIRT2304588	hsa-miR-1470	CLIP-seq
MIRT2078094	hsa-miR-150	CLIP-seq
MIRT2078095	hsa-miR-17	CLIP-seq
MIRT2304589	hsa-miR-1915	CLIP-seq
MIRT2078097	hsa-miR-20a	CLIP-seq
MIRT2078098	hsa-miR-20b	CLIP-seq
MIRT2304590	hsa-miR-26a	CLIP-seq
MIRT2304591	hsa-miR-26b	CLIP-seq
MIRT2304592	hsa-miR-301a	CLIP-seq
MIRT2304593	hsa-miR-301b	CLIP-seq
MIRT2078099	hsa-miR-302a	CLIP-seq
MIRT2078100	hsa-miR-302b	CLIP-seq
MIRT2078101	hsa-miR-302c	CLIP-seq
MIRT2078102	hsa-miR-302d	CLIP-seq
MIRT2078103	hsa-miR-3170	CLIP-seq
MIRT2078105	hsa-miR-33a	CLIP-seq
MIRT2078106	hsa-miR-33b	CLIP-seq
MIRT2078107	hsa-miR-372	CLIP-seq
MIRT2078108	hsa-miR-373	CLIP-seq
MIRT2078109	hsa-miR-377	CLIP-seq
MIRT2078111	hsa-miR-412	CLIP-seq
MIRT2078112	hsa-miR-4260	CLIP-seq
MIRT1265713	hsa-miR-4310	CLIP-seq
MIRT2078114	hsa-miR-4420	CLIP-seq
MIRT1265716	hsa-miR-4423-5p	CLIP-seq
MIRT2304594	hsa-miR-4446-5p	CLIP-seq
MIRT2304595	hsa-miR-4465	CLIP-seq
MIRT2304596	hsa-miR-454	CLIP-seq
MIRT2304597	hsa-miR-4667-3p	CLIP-seq
MIRT2078115	hsa-miR-4778-3p	CLIP-seq
MIRT2078116	hsa-miR-493	CLIP-seq
MIRT2078117	hsa-miR-519d	CLIP-seq
MIRT2304598	hsa-miR-532-3p	CLIP-seq
MIRT2078133	hsa-miR-562	CLIP-seq
MIRT1265750	hsa-miR-568	CLIP-seq
MIRT1265752	hsa-miR-586	CLIP-seq
MIRT2078134	hsa-miR-642b	CLIP-seq
MIRT2304599	hsa-miR-652	CLIP-seq
MIRT2078135	hsa-miR-93	CLIP-seq
MIRT2078103	hsa-miR-3170	CLIP-seq
MIRT2078112	hsa-miR-4260	CLIP-seq
MIRT2078116	hsa-miR-493	CLIP-seq
MIRT2078134	hsa-miR-642b	CLIP-seq
MIRT1265678	hsa-miR-1179	CLIP-seq
MIRT1265679	hsa-miR-1182	CLIP-seq
MIRT2078088	hsa-miR-1208	CLIP-seq
MIRT2078089	hsa-miR-1224-3p	CLIP-seq
MIRT2601638	hsa-miR-1224-5p	CLIP-seq
MIRT2304581	hsa-miR-1260	CLIP-seq
MIRT2304582	hsa-miR-1260b	CLIP-seq
MIRT2078091	hsa-miR-1264	CLIP-seq
MIRT2304583	hsa-miR-1280	CLIP-seq
MIRT2601639	hsa-miR-1282	CLIP-seq
MIRT2601640	hsa-miR-1304	CLIP-seq
MIRT2304585	hsa-miR-1307	CLIP-seq
MIRT2304586	hsa-miR-130a	CLIP-seq
MIRT2304587	hsa-miR-130b	CLIP-seq
MIRT2304588	hsa-miR-1470	CLIP-seq
MIRT2078094	hsa-miR-150	CLIP-seq
MIRT2304589	hsa-miR-1915	CLIP-seq
MIRT1265688	hsa-miR-23a	CLIP-seq
MIRT1265689	hsa-miR-23b	CLIP-seq
MIRT1265690	hsa-miR-23c	CLIP-seq
MIRT2601641	hsa-miR-298	CLIP-seq
MIRT2304592	hsa-miR-301a	CLIP-seq
MIRT2304593	hsa-miR-301b	CLIP-seq
MIRT2601642	hsa-miR-3145-3p	CLIP-seq
MIRT2078103	hsa-miR-3170	CLIP-seq
MIRT2601643	hsa-miR-330-3p	CLIP-seq
MIRT2601644	hsa-miR-3660	CLIP-seq
MIRT1265705	hsa-miR-3688-3p	CLIP-seq
MIRT2078109	hsa-miR-377	CLIP-seq
MIRT1265708	hsa-miR-3915	CLIP-seq
MIRT1265709	hsa-miR-3925-3p	CLIP-seq
MIRT1265711	hsa-miR-3928	CLIP-seq
MIRT2078110	hsa-miR-3973	CLIP-seq
MIRT1265712	hsa-miR-3977	CLIP-seq
MIRT2078111	hsa-miR-412	CLIP-seq
MIRT2601645	hsa-miR-4256	CLIP-seq
MIRT2078112	hsa-miR-4260	CLIP-seq
MIRT2601646	hsa-miR-4277	CLIP-seq
MIRT1265713	hsa-miR-4310	CLIP-seq
MIRT2078114	hsa-miR-4420	CLIP-seq
MIRT1265716	hsa-miR-4423-5p	CLIP-seq
MIRT2601647	hsa-miR-4448	CLIP-seq
MIRT1265717	hsa-miR-4476	CLIP-seq
MIRT2601648	hsa-miR-4514	CLIP-seq
MIRT2601649	hsa-miR-4526	CLIP-seq
MIRT2304596	hsa-miR-454	CLIP-seq
MIRT2601650	hsa-miR-4659a-3p	CLIP-seq
MIRT2601651	hsa-miR-4659b-3p	CLIP-seq
MIRT2304597	hsa-miR-4667-3p	CLIP-seq
MIRT2601652	hsa-miR-4689	CLIP-seq
MIRT2601653	hsa-miR-4692	CLIP-seq
MIRT1265733	hsa-miR-4735-5p	CLIP-seq
MIRT2601654	hsa-miR-4762-3p	CLIP-seq
MIRT1265737	hsa-miR-4775	CLIP-seq
MIRT2078115	hsa-miR-4778-3p	CLIP-seq
MIRT2601655	hsa-miR-4786-3p	CLIP-seq
MIRT1265740	hsa-miR-4802-3p	CLIP-seq
MIRT2078116	hsa-miR-493	CLIP-seq
MIRT2601656	hsa-miR-513a-5p	CLIP-seq
MIRT1265744	hsa-miR-515-5p	CLIP-seq
MIRT2078118	hsa-miR-520g	CLIP-seq
MIRT2078119	hsa-miR-520h	CLIP-seq
MIRT2304598	hsa-miR-532-3p	CLIP-seq
MIRT2078120	hsa-miR-548a-5p	CLIP-seq
MIRT2078121	hsa-miR-548ab	CLIP-seq
MIRT2078122	hsa-miR-548ak	CLIP-seq
MIRT2078123	hsa-miR-548b-5p	CLIP-seq
MIRT2078124	hsa-miR-548c-5p	CLIP-seq
MIRT2078125	hsa-miR-548d-5p	CLIP-seq
MIRT2078126	hsa-miR-548h	CLIP-seq
MIRT2078127	hsa-miR-548i	CLIP-seq
MIRT2078128	hsa-miR-548j	CLIP-seq
MIRT2078130	hsa-miR-548w	CLIP-seq
MIRT2078131	hsa-miR-548y	CLIP-seq
MIRT2078132	hsa-miR-559	CLIP-seq
MIRT2078133	hsa-miR-562	CLIP-seq
MIRT1265750	hsa-miR-568	CLIP-seq
MIRT2601657	hsa-miR-570	CLIP-seq
MIRT1265752	hsa-miR-586	CLIP-seq
MIRT1265753	hsa-miR-590-3p	CLIP-seq
MIRT1265754	hsa-miR-604	CLIP-seq
MIRT2601658	hsa-miR-626	CLIP-seq
MIRT2078134	hsa-miR-642b	CLIP-seq
MIRT1265755	hsa-miR-647	CLIP-seq
MIRT2304599	hsa-miR-652	CLIP-seq
MIRT2601659	hsa-miR-759	CLIP-seq
MIRT1265756	hsa-miR-766	CLIP-seq
MIRT1265757	hsa-miR-934	CLIP-seq
MIRT2601660	hsa-miR-942	CLIP-seq
MIRT1265678	hsa-miR-1179	CLIP-seq
MIRT1265679	hsa-miR-1182	CLIP-seq
MIRT2078088	hsa-miR-1208	CLIP-seq
MIRT2078089	hsa-miR-1224-3p	CLIP-seq
MIRT2601638	hsa-miR-1224-5p	CLIP-seq
MIRT2304581	hsa-miR-1260	CLIP-seq
MIRT2304582	hsa-miR-1260b	CLIP-seq
MIRT2078091	hsa-miR-1264	CLIP-seq
MIRT2304583	hsa-miR-1280	CLIP-seq
MIRT2601639	hsa-miR-1282	CLIP-seq
MIRT2601640	hsa-miR-1304	CLIP-seq
MIRT2304585	hsa-miR-1307	CLIP-seq
MIRT2304586	hsa-miR-130a	CLIP-seq
MIRT2304587	hsa-miR-130b	CLIP-seq
MIRT2304588	hsa-miR-1470	CLIP-seq
MIRT2078094	hsa-miR-150	CLIP-seq
MIRT2304589	hsa-miR-1915	CLIP-seq
MIRT1265688	hsa-miR-23a	CLIP-seq
MIRT1265689	hsa-miR-23b	CLIP-seq
MIRT1265690	hsa-miR-23c	CLIP-seq
MIRT2601641	hsa-miR-298	CLIP-seq
MIRT2304592	hsa-miR-301a	CLIP-seq
MIRT2304593	hsa-miR-301b	CLIP-seq
MIRT2601642	hsa-miR-3145-3p	CLIP-seq
MIRT2078103	hsa-miR-3170	CLIP-seq
MIRT2601643	hsa-miR-330-3p	CLIP-seq
MIRT2601644	hsa-miR-3660	CLIP-seq
MIRT1265705	hsa-miR-3688-3p	CLIP-seq
MIRT2078109	hsa-miR-377	CLIP-seq
MIRT1265708	hsa-miR-3915	CLIP-seq
MIRT1265711	hsa-miR-3928	CLIP-seq
MIRT2078110	hsa-miR-3973	CLIP-seq
MIRT1265712	hsa-miR-3977	CLIP-seq
MIRT2078111	hsa-miR-412	CLIP-seq
MIRT2601645	hsa-miR-4256	CLIP-seq
MIRT2078112	hsa-miR-4260	CLIP-seq
MIRT2601646	hsa-miR-4277	CLIP-seq
MIRT1265713	hsa-miR-4310	CLIP-seq
MIRT2078114	hsa-miR-4420	CLIP-seq
MIRT1265716	hsa-miR-4423-5p	CLIP-seq
MIRT2601647	hsa-miR-4448	CLIP-seq
MIRT1265717	hsa-miR-4476	CLIP-seq
MIRT2601648	hsa-miR-4514	CLIP-seq
MIRT2601649	hsa-miR-4526	CLIP-seq
MIRT2304596	hsa-miR-454	CLIP-seq
MIRT2601650	hsa-miR-4659a-3p	CLIP-seq
MIRT2601651	hsa-miR-4659b-3p	CLIP-seq
MIRT2304597	hsa-miR-4667-3p	CLIP-seq
MIRT2601652	hsa-miR-4689	CLIP-seq
MIRT2601653	hsa-miR-4692	CLIP-seq
MIRT2601654	hsa-miR-4762-3p	CLIP-seq
MIRT2078115	hsa-miR-4778-3p	CLIP-seq
MIRT2601655	hsa-miR-4786-3p	CLIP-seq
MIRT1265740	hsa-miR-4802-3p	CLIP-seq
MIRT2078116	hsa-miR-493	CLIP-seq
MIRT2601656	hsa-miR-513a-5p	CLIP-seq
MIRT2078118	hsa-miR-520g	CLIP-seq
MIRT2078119	hsa-miR-520h	CLIP-seq
MIRT2304598	hsa-miR-532-3p	CLIP-seq
MIRT2078120	hsa-miR-548a-5p	CLIP-seq
MIRT2078121	hsa-miR-548ab	CLIP-seq
MIRT2078122	hsa-miR-548ak	CLIP-seq
MIRT2078123	hsa-miR-548b-5p	CLIP-seq
MIRT2078124	hsa-miR-548c-5p	CLIP-seq
MIRT2078125	hsa-miR-548d-5p	CLIP-seq
MIRT2078126	hsa-miR-548h	CLIP-seq
MIRT2078127	hsa-miR-548i	CLIP-seq
MIRT2078128	hsa-miR-548j	CLIP-seq
MIRT2078130	hsa-miR-548w	CLIP-seq
MIRT2078131	hsa-miR-548y	CLIP-seq
MIRT2078132	hsa-miR-559	CLIP-seq
MIRT2078133	hsa-miR-562	CLIP-seq
MIRT1265750	hsa-miR-568	CLIP-seq
MIRT2601657	hsa-miR-570	CLIP-seq
MIRT1265752	hsa-miR-586	CLIP-seq
MIRT1265754	hsa-miR-604	CLIP-seq
MIRT2601658	hsa-miR-626	CLIP-seq
MIRT2078134	hsa-miR-642b	CLIP-seq
MIRT1265755	hsa-miR-647	CLIP-seq
MIRT2304599	hsa-miR-652	CLIP-seq
MIRT2601659	hsa-miR-759	CLIP-seq
MIRT1265757	hsa-miR-934	CLIP-seq
MIRT2601660	hsa-miR-942	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000375	Process	RNA splicing, via transesterification reactions	NAS	9328476
GO:0000398	Process	MRNA splicing, via spliceosome	IBA	21873635
GO:0000398	Process	MRNA splicing, via spliceosome	IC	9570313
GO:0000398	Process	MRNA splicing, via spliceosome	IDA	28781166
GO:0000398	Process	MRNA splicing, via spliceosome	TAS
GO:0005515	Function	Protein binding	IPI	9570313, 19615732, 22365833, 23793891, 25383878, 26030138, 29997244
GO:0005634	Component	Nucleus	IDA	28781166
GO:0005654	Component	Nucleoplasm	TAS
GO:0005681	Component	Spliceosomal complex	IC	9570313
GO:0005681	Component	Spliceosomal complex	NAS	9328476
GO:0006396	Process	RNA processing	TAS	9328476
GO:0008380	Process	RNA splicing	TAS	9328476
GO:0015030	Component	Cajal body	IDA	15257298
GO:0016607	Component	Nuclear speck	IDA	25383878
GO:0017070	Function	U6 snRNA binding	IBA	21873635
GO:0030621	Function	U4 snRNA binding	IBA	21873635
GO:0046540	Component	U4/U6 x U5 tri-snRNP complex	IBA	21873635
GO:0046540	Component	U4/U6 x U5 tri-snRNP complex	IDA	23793891
GO:0071001	Component	U4/U6 snRNP	IDA	9570313, 25383878
GO:0071005	Component	U2-type precatalytic spliceosome	IDA	28781166
GO:0097525	Component	Spliceosomal snRNP complex	IDA	25383878

Other IDs

• MIM: 607795
• HGNC: 17349
• e!Ensembl: ENSG00000136875

Protein

• UniProt ID: O43172
• Protein name: U4/U6 small nuclear ribonucleoprotein Prp4 (PRP4 homolog) (hPrp4) (U4/U6 snRNP 60 kDa protein) (WD splicing factor Prp4)
• Protein function: Plays a role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex). {ECO:0000269|PubMed:25383878, ECO:0000269|PubMed
• PDB: 1MZW, 3JCR, 5O9Z, 6AH0, 6AHD, 6QW6, 6QX9, 8H6E, 8H6J, 8H6K, 8H6L, 8Q7N, 8QO9, 8QOZ, 8QPA, 8QPB, 8QPE, 8QXD, 8QZS, 8R08, 8R09, 8R0A, 8R0B, 8RM5, 8Y6O
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08799	PRP4	108 → 136	pre-mRNA processing factor 4 (PRP4) like	Domain
  PF00400	WD40	215 → 259	WD domain, G-beta repeat	Repeat
  PF00400	WD40	263 → 309	WD domain, G-beta repeat	Repeat
  PF00400	WD40	313 → 351	WD domain, G-beta repeat	Repeat
  PF00400	WD40	397 → 435	WD domain, G-beta repeat	Repeat
  PF00400	WD40	439 → 478	WD domain, G-beta repeat	Repeat
  PF00400	WD40	482 → 520	WD domain, G-beta repeat	Repeat

• Sequence:

  MASSRASSTQATKTKAPDDLVAPVVKKPHIYYGSLEEKERERLAKGESGILGKDGLKAGI
  EAGNINITSGEVFEIEEHISERQAEVLAEFERRKRARQINVSTDDSEVKACLRALGEPIT
  LFGEGPAERRERLRNILSVVGTDALKKTKKDDEKSKKSKEEYQQTWYHEGPNSLKVARLW
  IANYSLPRAMKRLEEARLHKEIPETTRTSQMQELHKSLRSLNNFCSQIGDDRPISYCHFS
  PNSKMLATACWSGLCKLWSVPDCNLLHTLRGHNTNVGAIVFHPKSTVSLDPKDVNLASCA
  ADGSVKLWSLDSDEPVADIEGHTVRVARVMWHPSGRFLGTTCYDRSWRLWDLEAQEEILH
  QEGHSMGVYDIAFHQDGSLAGTGGLDAFGRVWDLRTGRCIMFLEGHLKEIYGINFSPNGY
  HIATGSGDNTCKVWDLRQRRCVYTIPAHQNLVTGVKFEPIHGNFLLTGAYDNTAKIWTHP
  GWSPLKTLAGHEGKVMGLDISSDGQLIATCSYDRTFKLWMAE

• Sequence length: 522

Pathways

KEGG:

Spliceosome

Reactome:

mRNA Splicing - Major Pathway

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Diabetes mellitus	Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs80356663, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261
Glaucoma	Glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644
Hearing loss	Conductive hearing loss, Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Hyperinsulinism	Hyperinsulinism	rs387906407, rs151344623, rs121913156, rs137853245, rs80356655, rs104894010, rs104894012, rs104894014, rs104894015, rs137852676, rs587783169, rs72559716, rs541269678, rs151344624, rs797045209, rs761749884, rs797045624, rs863225280, rs139964066, rs1057516281, rs1057516317, rs576684889, rs201682634, rs1350717554, rs768951263, rs1260178539, rs200670692, rs72559734, rs1400535021, rs372307320, rs1554923999, rs751279984, rs1008906426, rs367850779, rs1382448285, rs1564977373, rs750586210, rs1599937180
Keratoconus	Keratoconus	rs273585637, rs273585632, rs273585616, rs273585618, rs281865144, rs281865150, rs1553500862, rs756938019
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Obesity	Obesity	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs193922650, rs193922685, rs193922687, rs751160202, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575
Retinitis pigmentosa	Retinitis Pigmentosa, RETINITIS PIGMENTOSA 70, Retinitis pigmentosa	rs267606794, rs200691042, rs397704718, rs202193201, rs267606793, rs2147483647, rs779886453, rs267606691, rs794728002, rs878853253, rs137853189, rs137853190, rs137853112, rs137853113, rs137853114, rs483352894, rs121908282, rs549625604, rs137852832, rs1587620953, rs104893680, rs587777805, rs386834261, rs104894474, rs104894475, rs28940315, rs387906272, rs202126574, rs267607017, rs80338903, rs397518008, rs111033367, rs121912599, rs80338902, rs111033364, rs111033272, rs121912600, rs587776538, rs111033334, rs80338904, rs121909398, rs119103286, rs587777809, rs121434241, rs121434242, rs121434243, rs121434236, rs121434238, rs121434239, rs121434240, rs267607034, rs267606874, rs267606876, rs267606875, rs1555468634, rs28940869, rs193919337, rs587776589, rs119475042, rs587776590, rs119475043, rs1600344451, rs1600337143, rs587776591, rs121908140, rs1085307049, rs111033258, rs121908142, rs111033267, rs137852959, rs121908175, rs121908178, rs121908179, rs138043021, rs397515359, rs397515360, rs730880273, rs119489105, rs371956016, rs1600169350, rs104894492, rs104894493, rs28937873, rs121912631, rs1567160967, rs886037612, rs137853005, rs62635656, rs62635655, rs62635654, rs28939720, rs137853137, rs62636291, rs62636275, rs281865175, rs104894082, rs869320726, rs869320727, rs104894083, rs869320728, rs121909073, rs121909074, rs121909075, rs121909076, rs1581734819, rs1581742970, rs104894672, rs104894178, rs201578674, rs61751386, rs267607077, rs121918532, rs1567360969, rs137852696, rs104893967, rs61750173, rs118203888, rs62638644, rs62638651, rs62642057, rs62638634, rs62638637, rs137852549, rs606231180, rs606231181, rs62638646, rs2147248070, rs137852550, rs137852284, rs104894925, rs28933687, rs104894926, rs2147081376, rs104894927, rs35689081, rs113624356, rs121917777, rs104893768, rs29001566, rs29001637, rs28933394, rs104893769, rs104893771, rs104893772, rs104893773, rs104893779, rs104893774, rs104893776, rs104893777, rs28933993, rs104893775, rs104893778, rs29001653, rs104893780, rs104893781, rs104893787, rs28933395, rs104893786, rs104893782, rs104893791, rs104893792, rs104893788, rs104893793, rs104893794, rs121918590, rs104893795, rs104893797, rs137853290, rs766278489, rs28933990, rs137853291, rs1598717056, rs121918579, rs121918580, rs730880317, rs121918581, rs1553801591, rs121918583, rs121918576, rs121918577, rs121918578, rs61752895, rs61752871, rs62637004, rs121917744, rs61752909, rs121917745, rs61755777, rs61755806, rs121918563, rs61755793, rs61755792, rs61755816, rs61755786, rs61755771, rs61755794, rs61755783, rs104894459, rs763191889, rs121912550, rs121912552, rs121909599, rs121909600, rs62625014, rs104893736, rs781781440, rs779514800, rs387906646, rs387906648, rs62653011, rs121909835, rs869320618, rs61751399, rs775098953, rs374390376, rs387906971, rs1911001854, rs147394623, rs786200928, rs1064792852, rs387907136, rs387907137, rs387907192, rs376586707, rs201188361, rs387907268, rs747425652, rs1573554264, rs387907314, rs199476194, rs62645748, rs397514574, rs397514575, rs374963432, rs397517964, rs369522997, rs111033379, rs111033264, rs202175091, rs111033265, rs111033418, rs397517973, rs397517974, rs397517976, rs397517977, rs397517978, rs151148854, rs111033518, rs397517983, rs397517984, rs111033385, rs111033417, rs397517988, rs397517989, rs397517990, rs397517994, rs111033273, rs397518003, rs397518010, rs397518011, rs397518013, rs397518014, rs397518018, rs375668376, rs397518021, rs397518022, rs397518023, rs111033386, rs111033268, rs397518029, rs111033280, rs397518036, rs397518039, rs397518041, rs397518043, rs397518046, rs41308425, rs397518048, rs73090721, rs111033263, rs146150511, rs387907367, rs386833717, rs386834012, rs386834019, rs386834024, rs386834152, rs398122391, rs879255568, rs398122960, rs398122961, rs398122962, rs398122963, rs398122964, rs398122525, rs398123298, rs398123336, rs1800728, rs398123538, rs398123575, rs398123576, rs372504780, rs398124544, rs398124618, rs398124619, rs149614625, rs587777086, rs431905521, rs61755781, rs61755785, rs61755787, rs61755796, rs61755800, rs61755805, rs61755807, rs61755810, rs61755817, rs62645935, rs281865373, rs61748433, rs62635002, rs62653030, rs281865304, rs62638633, rs62638645, rs62640589, rs61751276, rs61751281, rs61751282, rs62637006, rs62637007, rs61752873, rs281865285, rs61752883, rs61752884, rs281865286, rs61748550, rs61748558, rs61748559, rs61751385, rs61749409, rs61749414, rs61749418, rs61752401, rs61751263, rs62654397, rs61748526, rs61751395, rs61749433, rs61752407, rs62642570, rs61749451, rs61749459, rs61750065, rs61751398, rs62645946, rs61750137, rs61754044, rs61750140, rs61751402, rs281865377, rs61751388, rs61750152, rs62642574, rs61750155, rs61750567, rs61753023, rs61750571, rs61751406, rs61753029, rs61753030, rs61751389, rs61750639, rs61753043, rs61750653, rs61750654, rs61753046, rs63749055, rs62645958, rs62645944, rs62636511, rs281865168, rs281865171, rs281865166, rs62638179, rs281865188, rs62645754, rs62636264, rs62636266, rs62636267, rs62636273, rs62635659, rs62645752, rs137853923, rs730880283, rs587777272, rs587777273, rs202210819, rs587777376, rs587777377, rs483353056, rs587777599, rs527236085, rs527236089, rs527236091, rs527236088, rs527236090, rs527236097, rs527236098, rs148460146, rs527236101, rs527236100, rs527236102, rs527236062, rs527236055, rs527236056, rs527236109, rs527236108, rs527236111, rs527236112, rs527236092, rs527236059, rs527236058, rs527236077, rs527236072, rs527236075, rs527236073, rs527236065, rs527236074, rs527236071, rs527236068, rs527236069, rs527236078, rs527236066, rs527236076, rs527236070, rs527236067, rs527236082, rs527236060, rs527236061, rs372989281, rs527236079, rs527236116, rs527236087, rs201493928, rs527236105, rs527236083, rs527236134, rs527236096, rs527236113, rs527236114, rs527236086, rs527236094, rs144738703, rs527236095, rs199867882, rs527236099, rs114342808, rs527236139, rs527236137, rs527236127, rs527236124, rs527236126, rs527236125, rs527236121, rs527236123, rs55958016, rs527236120, rs527236118, rs587783013, rs727505116, rs727503731, rs146733615, rs727504867, rs727503715, rs727505343, rs727503723, rs727503725, rs730880349, rs727505337, rs727503736, rs727504893, rs727504075, rs730882149, rs730882261, rs148412181, rs746523071, rs786204428, rs750228923, rs749909863, rs786205444, rs786205445, rs786205447, rs786205450, rs767745816, rs2723341, rs786205493, rs368098126, rs761628767, rs786205533, rs786205534, rs786205535, rs786205545, rs786205564, rs763295314, rs797044561, rs793888523, rs786205610, rs786205626, rs786205644, rs786205652, rs750542962, rs863223342, rs863223341, rs863223338, rs863223344, rs863223339, rs863223340, rs779007169, rs863223343, rs786205856, rs786205857, rs786205858, rs794726979, rs372354156, rs794727120, rs794727139, rs794727197, rs794727281, rs754012367, rs373441420, rs761238771, rs775557680, rs794727579, rs794727631, rs797044735, rs201657446, rs372347027, rs148660051, rs779791079, rs753330544, rs794727903, rs875989821, rs781192528, rs386833744, rs746174328, rs797045089, rs752683070, rs770258677, rs797045120, rs376306240, rs368049814, rs770558150, rs797045224, rs863224862, rs863224894, rs759781200, rs771214648, rs372659908, rs201541131, rs869312182, rs869312180, rs869312179, rs758052437, rs869312177, rs869312188, rs869312183, rs869312187, rs1060499536, rs749012133, rs762951570, rs760225886, rs766590491, rs876657733, rs876657731, rs397517963, rs876657730, rs876657718, rs876661403, rs775177930, rs61750138, rs768278935, rs201471607, rs61749427, rs61752398, rs765707028, rs767648174, rs368675850, rs878853407, rs878853413, rs878853410, rs878853354, rs878853353, rs750151209, rs761440783, rs199584830, rs878853350, rs878853349, rs143994166, rs878853327, rs878853328, rs760430056, rs878853394, rs868538598, rs879253768, rs879255547, rs200826424, rs368217569, rs886037911, rs886037947, rs886037948, rs886037949, rs764256655, rs751130485, rs886039450, rs886039449, 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rs2084776365, rs777851867, rs772867912, rs1476546899, rs145605739, rs759537984, rs141252097, rs754916169, rs748972748, rs1166245419, rs771640639, rs1768367412, rs764362221, rs1050742628, rs1299355731, rs184722374, rs1477705832, rs1561965266, rs761760327, rs1245304444, rs1431710414, rs1767601438, rs1764940309, rs1389794536, rs989589885, rs1769936722, rs1765726534, rs780433094, rs1231321479, rs765035454, rs759505780, rs774264204, rs1924904597, rs776014770, rs1662191792, rs1228475082, rs1772614934, rs1193854376, rs748946491, rs767630412, rs746128841, rs748977292, rs1767600988, rs1769267226, rs373232101, rs1167867158, rs1660515780, rs1664290387, rs866822473, rs963201816, rs1664325377, rs1664671663, rs1558138741, rs1656646221, rs1485393201, rs1657976232, rs1657992342, rs1657997730, rs762070900, rs1660922779, rs1661140054, rs1661687852, rs1662771528, rs1558121260, rs1665132445, rs755032078, rs2032459600, rs769198746, rs2034852728, rs2036054600, rs757154662, rs766370703, rs2038566220, rs1195779037, rs2039690812, rs1362964563, rs1242866408, rs775776288, rs1278226911, rs1238123416, rs1689010156, rs200711686, rs1667504255, rs753619551, rs1558490060, rs866543181, rs770399625, rs1472199114, rs764109533, rs1415160298, rs2084785435, rs1402468701, rs984572250, rs768694789, rs1237954156, rs1737429976, rs373037737, rs759563967, rs751589956, rs774204108, rs1409801782, rs1768346880, rs772549804, rs1431427428, rs1770904723, rs909730457, rs1245121527, rs1767699695, rs1295206142, rs746499646, rs1766006937, rs779372264, rs749460193, rs371886218, rs1488237523, rs1806079331, rs1489149705, rs955766374, rs1210263161, rs2073701307, rs2073926924, rs1342475527, rs2067114709, rs2067115815, rs866524368, rs1186795749, rs2067127718, rs1569235565, rs2067136586, rs2067140471, rs2067144007, rs2067146007, rs1555961509, rs2067157388, rs2067160273, rs2067161139, rs2067163605, rs2067164096, rs2067169934, rs2067170858, rs2067172824, rs2067174697, rs1233849070, rs2067176160, rs2067176379, rs1373833359, rs1601922510, rs2067182354, rs2067182636, rs2067182990, rs2067183162, rs2067184023, rs2067185564, rs2067186632, rs2067186762, rs2067187127, rs2067187550, rs2067187618, rs2067188031, rs2067188111, rs2067190364, rs2067190922, rs2067191154, rs2067191335, rs2067191635, rs1305342570, rs2067193056, rs2067194648, rs1569237670, rs762837543, rs760287363, rs1235430504, rs1371160062, rs2031604509, rs1558244152, rs2034951427, rs912980910, rs1662599697, rs1005130980, rs1334444660, rs898144119, rs1383907349, rs1753232409, rs1769469813, rs1961362638, rs2073798309, rs2073961843, rs1836931186, rs1661659605, rs1645824187, rs1343680080, rs1660517678, rs765676754, rs1366609497, rs1656942613, rs1347261858, rs1685567937, rs1667513233, rs1805984836, rs2073842959, rs2067140574, rs2067148119, rs2067166789, rs2067179633, rs2067200470, rs1924900389, rs2034938852	24419317, 25383878
Rod-cone dystrophy	Rod-Cone Dystrophy	rs267606641, rs199476133, rs193302849, rs777668842, rs775518991, rs752300607, rs142759730, rs756225251, rs536742386, rs1588830568, rs778907433

Unknown
Disease term	Disease name	Evidence	References	Source
Retinitis Pigmentosa	retinitis pigmentosa			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Aortic Dissection	Associate	37684281
Ovarian Neoplasms	Associate	18687998
Retinal Diseases	Associate	38184646
Retinitis Pigmentosa	Associate	37264419