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
• 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
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	NAS	30975767
GO:0005515	Function	Protein binding	IPI	9570313, 16723661, 19615732, 22365833, 23793891, 25383878, 26030138, 28935721, 29997244, 33961781
GO:0005634	Component	Nucleus	IDA	28781166
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	30975767
GO:0005634	Component	Nucleus	TAS	9328476
GO:0005654	Component	Nucleoplasm	TAS
GO:0005681	Component	Spliceosomal complex	IC	9570313
GO:0005681	Component	Spliceosomal complex	IEA
GO:0005681	Component	Spliceosomal complex	IPI	30975767
GO:0005681	Component	Spliceosomal complex	NAS	9328476
GO:0006396	Process	RNA processing	TAS	9328476
GO:0006397	Process	MRNA processing	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0008380	Process	RNA splicing	TAS	9328476
GO:0015030	Component	Cajal body	IDA	15257298
GO:0016607	Component	Nuclear speck	IDA	25383878
GO:0016607	Component	Nuclear speck	IEA
GO:0017070	Function	U6 snRNA binding	IBA
GO:0030621	Function	U4 snRNA binding	IBA
GO:0046540	Component	U4/U6 x U5 tri-snRNP complex	IBA
GO:0046540	Component	U4/U6 x U5 tri-snRNP complex	IDA	23793891
GO:0046540	Component	U4/U6 x U5 tri-snRNP complex	IPI	30975767
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

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
Retinal dystrophy	Likely pathogenic	rs587777599	RCV004815198	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa 70	Likely pathogenic	rs587777599	RCV000132564	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Cervical cancer	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRPF4-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aortic Dissection	Aortic dissection	Pubtator	37684281	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	31445970		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23686430		★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	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
Liver carcinoma	Liver carcinoma	BEFREE	23466643		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	31445970		★☆☆☆☆ 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
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	18687998	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	38184646	Associate	★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	24419317, 25383878, 31445970		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa	Retinitis Pigmentosa	ORPHANET_DG	24419317		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis pigmentosa	Retinitis Pigmentosa	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	37264419	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 70	Retinitis Pigmentosa	UNIPROT_DG	24419317, 25383878		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RETINITIS PIGMENTOSA 70	Retinitis Pigmentosa	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RETINITIS PIGMENTOSA 70	Retinitis Pigmentosa	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RETINITIS PIGMENTOSA 70	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	BEFREE	31502671		★☆☆☆☆ Found in Text Mining only