EXPH5 (exophilin 5)

Gene

• Entrez ID: 23086
• Gene name: Exophilin 5
• Gene symbol: EXPH5
• Synonyms (NCBI Gene): EBS4, SLAC2-B, SLAC2B
• Chromosome: 11
• Chromosome location: 11q22.3
• Summary: The protein encoded by this gene is a member of the synaptotagmin-like protein (Slp) family lacking a C2 domain. It contains an N-terminal synaptotagmin-like homology domain (SHD), and is a ras-related protein Rab-27B effector protein. This protein is tho

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs749309384	G>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT052444	hsa-let-7a-5p	CLASH	23622248
MIRT036925	hsa-miR-877-3p	CLASH	23622248
MIRT658477	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT658476	hsa-miR-4299	HITS-CLIP	23824327
MIRT658475	hsa-miR-4738-3p	HITS-CLIP	23824327
MIRT641479	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT641478	hsa-miR-507	HITS-CLIP	23824327
MIRT641477	hsa-miR-557	HITS-CLIP	23824327
MIRT641476	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT658477	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT658476	hsa-miR-4299	HITS-CLIP	23824327
MIRT658475	hsa-miR-4738-3p	HITS-CLIP	23824327
MIRT641479	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT641478	hsa-miR-507	HITS-CLIP	23824327
MIRT641477	hsa-miR-557	HITS-CLIP	23824327
MIRT641476	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT973367	hsa-miR-1206	CLIP-seq
MIRT973368	hsa-miR-1233	CLIP-seq
MIRT973369	hsa-miR-1258	CLIP-seq
MIRT973370	hsa-miR-1268	CLIP-seq
MIRT973371	hsa-miR-1268b	CLIP-seq
MIRT973372	hsa-miR-128	CLIP-seq
MIRT973373	hsa-miR-1285	CLIP-seq
MIRT973374	hsa-miR-1324	CLIP-seq
MIRT973375	hsa-miR-1827	CLIP-seq
MIRT973376	hsa-miR-218	CLIP-seq
MIRT973377	hsa-miR-219-1-3p	CLIP-seq
MIRT973378	hsa-miR-24	CLIP-seq
MIRT973379	hsa-miR-25	CLIP-seq
MIRT973380	hsa-miR-27a	CLIP-seq
MIRT973381	hsa-miR-27b	CLIP-seq
MIRT973382	hsa-miR-302a	CLIP-seq
MIRT973383	hsa-miR-302b	CLIP-seq
MIRT973384	hsa-miR-302c	CLIP-seq
MIRT973385	hsa-miR-302d	CLIP-seq
MIRT973386	hsa-miR-302e	CLIP-seq
MIRT973387	hsa-miR-3120-5p	CLIP-seq
MIRT973388	hsa-miR-3122	CLIP-seq
MIRT973389	hsa-miR-3138	CLIP-seq
MIRT973390	hsa-miR-3140-3p	CLIP-seq
MIRT973391	hsa-miR-3163	CLIP-seq
MIRT973392	hsa-miR-3185	CLIP-seq
MIRT973393	hsa-miR-3187-5p	CLIP-seq
MIRT973394	hsa-miR-3192	CLIP-seq
MIRT973395	hsa-miR-32	CLIP-seq
MIRT973396	hsa-miR-320e	CLIP-seq
MIRT973397	hsa-miR-323-5p	CLIP-seq
MIRT973398	hsa-miR-326	CLIP-seq
MIRT973399	hsa-miR-330-5p	CLIP-seq
MIRT973400	hsa-miR-340	CLIP-seq
MIRT973401	hsa-miR-345	CLIP-seq
MIRT973402	hsa-miR-3612	CLIP-seq
MIRT973403	hsa-miR-3622a-3p	CLIP-seq
MIRT973404	hsa-miR-3622b-3p	CLIP-seq
MIRT973405	hsa-miR-363	CLIP-seq
MIRT973406	hsa-miR-3664-5p	CLIP-seq
MIRT973407	hsa-miR-367	CLIP-seq
MIRT973408	hsa-miR-3672	CLIP-seq
MIRT973409	hsa-miR-3673	CLIP-seq
MIRT973410	hsa-miR-3689a-3p	CLIP-seq
MIRT973411	hsa-miR-3689c	CLIP-seq
MIRT973412	hsa-miR-371-5p	CLIP-seq
MIRT973413	hsa-miR-371b-5p	CLIP-seq
MIRT973414	hsa-miR-372	CLIP-seq
MIRT973415	hsa-miR-373	CLIP-seq
MIRT973416	hsa-miR-3911	CLIP-seq
MIRT973417	hsa-miR-3913-5p	CLIP-seq
MIRT973418	hsa-miR-3926	CLIP-seq
MIRT973419	hsa-miR-3929	CLIP-seq
MIRT973420	hsa-miR-3942-5p	CLIP-seq
MIRT973421	hsa-miR-4266	CLIP-seq
MIRT973422	hsa-miR-4270	CLIP-seq
MIRT973423	hsa-miR-4274	CLIP-seq
MIRT973424	hsa-miR-4284	CLIP-seq
MIRT973425	hsa-miR-4314	CLIP-seq
MIRT973426	hsa-miR-4325	CLIP-seq
MIRT973427	hsa-miR-4419b	CLIP-seq
MIRT973428	hsa-miR-4422	CLIP-seq
MIRT973429	hsa-miR-4441	CLIP-seq
MIRT973430	hsa-miR-4443	CLIP-seq
MIRT973431	hsa-miR-4452	CLIP-seq
MIRT973432	hsa-miR-4478	CLIP-seq
MIRT973433	hsa-miR-4486	CLIP-seq
MIRT973434	hsa-miR-4519	CLIP-seq
MIRT973435	hsa-miR-4522	CLIP-seq
MIRT973436	hsa-miR-4528	CLIP-seq
MIRT973437	hsa-miR-4530	CLIP-seq
MIRT973438	hsa-miR-4646-5p	CLIP-seq
MIRT973439	hsa-miR-4649-3p	CLIP-seq
MIRT973440	hsa-miR-4684-5p	CLIP-seq
MIRT973441	hsa-miR-4685-5p	CLIP-seq
MIRT973442	hsa-miR-4695-5p	CLIP-seq
MIRT973443	hsa-miR-4703-5p	CLIP-seq
MIRT973444	hsa-miR-4722-5p	CLIP-seq
MIRT973445	hsa-miR-4728-5p	CLIP-seq
MIRT973446	hsa-miR-4768-3p	CLIP-seq
MIRT973447	hsa-miR-4779	CLIP-seq
MIRT973448	hsa-miR-4786-5p	CLIP-seq
MIRT973449	hsa-miR-4797-5p	CLIP-seq
MIRT973450	hsa-miR-4800-5p	CLIP-seq
MIRT973451	hsa-miR-485-5p	CLIP-seq
MIRT973452	hsa-miR-490-3p	CLIP-seq
MIRT973453	hsa-miR-500a	CLIP-seq
MIRT973454	hsa-miR-508-5p	CLIP-seq
MIRT973455	hsa-miR-513a-5p	CLIP-seq
MIRT973456	hsa-miR-516b	CLIP-seq
MIRT973457	hsa-miR-520a-3p	CLIP-seq
MIRT973458	hsa-miR-520b	CLIP-seq
MIRT973459	hsa-miR-520c-3p	CLIP-seq
MIRT973460	hsa-miR-520d-3p	CLIP-seq
MIRT973461	hsa-miR-520e	CLIP-seq
MIRT973462	hsa-miR-520f	CLIP-seq
MIRT973463	hsa-miR-541	CLIP-seq
MIRT973464	hsa-miR-544b	CLIP-seq
MIRT973465	hsa-miR-548c-3p	CLIP-seq
MIRT973466	hsa-miR-548n	CLIP-seq
MIRT973467	hsa-miR-548s	CLIP-seq
MIRT973468	hsa-miR-548t	CLIP-seq
MIRT973469	hsa-miR-571	CLIP-seq
MIRT973470	hsa-miR-585	CLIP-seq
MIRT973471	hsa-miR-593	CLIP-seq
MIRT973472	hsa-miR-612	CLIP-seq
MIRT973473	hsa-miR-650	CLIP-seq
MIRT973474	hsa-miR-654-5p	CLIP-seq
MIRT973475	hsa-miR-661	CLIP-seq
MIRT973476	hsa-miR-759	CLIP-seq
MIRT973477	hsa-miR-765	CLIP-seq
MIRT973478	hsa-miR-766	CLIP-seq
MIRT973479	hsa-miR-769-5p	CLIP-seq
MIRT973480	hsa-miR-876-3p	CLIP-seq
MIRT973481	hsa-miR-885-5p	CLIP-seq
MIRT973482	hsa-miR-92a	CLIP-seq
MIRT973483	hsa-miR-92b	CLIP-seq
MIRT973484	hsa-miR-940	CLIP-seq
MIRT973373	hsa-miR-1285	CLIP-seq
MIRT973393	hsa-miR-3187-5p	CLIP-seq
MIRT1548457	hsa-miR-3664-3p	CLIP-seq
MIRT1548458	hsa-miR-3670	CLIP-seq
MIRT1548459	hsa-miR-4433	CLIP-seq
MIRT1548460	hsa-miR-4459	CLIP-seq
MIRT973446	hsa-miR-4768-3p	CLIP-seq
MIRT973448	hsa-miR-4786-5p	CLIP-seq
MIRT973472	hsa-miR-612	CLIP-seq
MIRT973475	hsa-miR-661	CLIP-seq
MIRT973418	hsa-miR-3926	CLIP-seq
MIRT973448	hsa-miR-4786-5p	CLIP-seq
MIRT973452	hsa-miR-490-3p	CLIP-seq
MIRT973467	hsa-miR-548s	CLIP-seq
MIRT973479	hsa-miR-769-5p	CLIP-seq
MIRT973368	hsa-miR-1233	CLIP-seq
MIRT1988377	hsa-miR-1256	CLIP-seq
MIRT973372	hsa-miR-128	CLIP-seq
MIRT973373	hsa-miR-1285	CLIP-seq
MIRT973375	hsa-miR-1827	CLIP-seq
MIRT1988378	hsa-miR-186	CLIP-seq
MIRT973376	hsa-miR-218	CLIP-seq
MIRT973380	hsa-miR-27a	CLIP-seq
MIRT973381	hsa-miR-27b	CLIP-seq
MIRT1988379	hsa-miR-297	CLIP-seq
MIRT973388	hsa-miR-3122	CLIP-seq
MIRT1988380	hsa-miR-3149	CLIP-seq
MIRT1988381	hsa-miR-3159	CLIP-seq
MIRT973392	hsa-miR-3185	CLIP-seq
MIRT973393	hsa-miR-3187-5p	CLIP-seq
MIRT973394	hsa-miR-3192	CLIP-seq
MIRT973398	hsa-miR-326	CLIP-seq
MIRT973399	hsa-miR-330-5p	CLIP-seq
MIRT973402	hsa-miR-3612	CLIP-seq
MIRT1988382	hsa-miR-3616-5p	CLIP-seq
MIRT973403	hsa-miR-3622a-3p	CLIP-seq
MIRT973404	hsa-miR-3622b-3p	CLIP-seq
MIRT1988383	hsa-miR-3647-5p	CLIP-seq
MIRT973406	hsa-miR-3664-5p	CLIP-seq
MIRT973410	hsa-miR-3689a-3p	CLIP-seq
MIRT973411	hsa-miR-3689c	CLIP-seq
MIRT973417	hsa-miR-3913-5p	CLIP-seq
MIRT1988384	hsa-miR-3919	CLIP-seq
MIRT1988385	hsa-miR-3925-5p	CLIP-seq
MIRT973419	hsa-miR-3929	CLIP-seq
MIRT1988386	hsa-miR-3937	CLIP-seq
MIRT973420	hsa-miR-3942-5p	CLIP-seq
MIRT1988387	hsa-miR-4252	CLIP-seq
MIRT973425	hsa-miR-4314	CLIP-seq
MIRT973427	hsa-miR-4419b	CLIP-seq
MIRT1548459	hsa-miR-4433	CLIP-seq
MIRT1988388	hsa-miR-4438	CLIP-seq
MIRT973430	hsa-miR-4443	CLIP-seq
MIRT1548460	hsa-miR-4459	CLIP-seq
MIRT973432	hsa-miR-4478	CLIP-seq
MIRT973437	hsa-miR-4530	CLIP-seq
MIRT1988389	hsa-miR-4537	CLIP-seq
MIRT973438	hsa-miR-4646-5p	CLIP-seq
MIRT973439	hsa-miR-4649-3p	CLIP-seq
MIRT1988390	hsa-miR-4679	CLIP-seq
MIRT1988391	hsa-miR-4699-3p	CLIP-seq
MIRT973443	hsa-miR-4703-5p	CLIP-seq
MIRT1988392	hsa-miR-4714-5p	CLIP-seq
MIRT973444	hsa-miR-4722-5p	CLIP-seq
MIRT973445	hsa-miR-4728-5p	CLIP-seq
MIRT1988393	hsa-miR-4731-5p	CLIP-seq
MIRT1988394	hsa-miR-4760-3p	CLIP-seq
MIRT973446	hsa-miR-4768-3p	CLIP-seq
MIRT1988395	hsa-miR-4773	CLIP-seq
MIRT973448	hsa-miR-4786-5p	CLIP-seq
MIRT1988396	hsa-miR-4793-3p	CLIP-seq
MIRT1988397	hsa-miR-4795-5p	CLIP-seq
MIRT973449	hsa-miR-4797-5p	CLIP-seq
MIRT973451	hsa-miR-485-5p	CLIP-seq
MIRT973452	hsa-miR-490-3p	CLIP-seq
MIRT1988398	hsa-miR-495	CLIP-seq
MIRT973453	hsa-miR-500a	CLIP-seq
MIRT973454	hsa-miR-508-5p	CLIP-seq
MIRT1988399	hsa-miR-5095	CLIP-seq
MIRT973455	hsa-miR-513a-5p	CLIP-seq
MIRT1988400	hsa-miR-514	CLIP-seq
MIRT1988401	hsa-miR-514b-3p	CLIP-seq
MIRT973456	hsa-miR-516b	CLIP-seq
MIRT973463	hsa-miR-541	CLIP-seq
MIRT973464	hsa-miR-544b	CLIP-seq
MIRT973465	hsa-miR-548c-3p	CLIP-seq
MIRT1988402	hsa-miR-548o	CLIP-seq
MIRT1988403	hsa-miR-555	CLIP-seq
MIRT1988404	hsa-miR-573	CLIP-seq
MIRT973472	hsa-miR-612	CLIP-seq
MIRT973473	hsa-miR-650	CLIP-seq
MIRT973474	hsa-miR-654-5p	CLIP-seq
MIRT973475	hsa-miR-661	CLIP-seq
MIRT973478	hsa-miR-766	CLIP-seq
MIRT973484	hsa-miR-940	CLIP-seq
MIRT2222829	hsa-miR-101	CLIP-seq
MIRT973367	hsa-miR-1206	CLIP-seq
MIRT973368	hsa-miR-1233	CLIP-seq
MIRT2222830	hsa-miR-1254	CLIP-seq
MIRT1988377	hsa-miR-1256	CLIP-seq
MIRT973370	hsa-miR-1268	CLIP-seq
MIRT973371	hsa-miR-1268b	CLIP-seq
MIRT2222831	hsa-miR-1276	CLIP-seq
MIRT973373	hsa-miR-1285	CLIP-seq
MIRT2222832	hsa-miR-181a	CLIP-seq
MIRT2222833	hsa-miR-181b	CLIP-seq
MIRT2222834	hsa-miR-181c	CLIP-seq
MIRT2222835	hsa-miR-181d	CLIP-seq
MIRT973375	hsa-miR-1827	CLIP-seq
MIRT1988378	hsa-miR-186	CLIP-seq
MIRT2222836	hsa-miR-197	CLIP-seq
MIRT2222837	hsa-miR-224	CLIP-seq
MIRT973379	hsa-miR-25	CLIP-seq
MIRT2222838	hsa-miR-296-5p	CLIP-seq
MIRT2222839	hsa-miR-3116	CLIP-seq
MIRT973388	hsa-miR-3122	CLIP-seq
MIRT2222840	hsa-miR-3154	CLIP-seq
MIRT2222841	hsa-miR-3157-5p	CLIP-seq
MIRT2222842	hsa-miR-3165	CLIP-seq
MIRT973393	hsa-miR-3187-5p	CLIP-seq
MIRT973394	hsa-miR-3192	CLIP-seq
MIRT973395	hsa-miR-32	CLIP-seq
MIRT973397	hsa-miR-323-5p	CLIP-seq
MIRT2222843	hsa-miR-330-3p	CLIP-seq
MIRT973403	hsa-miR-3622a-3p	CLIP-seq
MIRT973404	hsa-miR-3622b-3p	CLIP-seq
MIRT973405	hsa-miR-363	CLIP-seq
MIRT1548457	hsa-miR-3664-3p	CLIP-seq
MIRT973407	hsa-miR-367	CLIP-seq
MIRT1548458	hsa-miR-3670	CLIP-seq
MIRT973408	hsa-miR-3672	CLIP-seq
MIRT2222844	hsa-miR-3688-5p	CLIP-seq
MIRT973410	hsa-miR-3689a-3p	CLIP-seq
MIRT973411	hsa-miR-3689c	CLIP-seq
MIRT2222845	hsa-miR-3714	CLIP-seq
MIRT2222846	hsa-miR-378g	CLIP-seq
MIRT2222847	hsa-miR-380	CLIP-seq
MIRT973417	hsa-miR-3913-5p	CLIP-seq
MIRT973418	hsa-miR-3926	CLIP-seq
MIRT973419	hsa-miR-3929	CLIP-seq
MIRT1988386	hsa-miR-3937	CLIP-seq
MIRT2222848	hsa-miR-3942-3p	CLIP-seq
MIRT2222849	hsa-miR-3978	CLIP-seq
MIRT2222850	hsa-miR-4262	CLIP-seq
MIRT973426	hsa-miR-4325	CLIP-seq
MIRT973427	hsa-miR-4419b	CLIP-seq
MIRT1548459	hsa-miR-4433	CLIP-seq
MIRT1988388	hsa-miR-4438	CLIP-seq
MIRT973431	hsa-miR-4452	CLIP-seq
MIRT1548460	hsa-miR-4459	CLIP-seq
MIRT2222851	hsa-miR-4475	CLIP-seq
MIRT973432	hsa-miR-4478	CLIP-seq
MIRT973433	hsa-miR-4486	CLIP-seq
MIRT2222852	hsa-miR-4495	CLIP-seq
MIRT2222853	hsa-miR-450a	CLIP-seq
MIRT973437	hsa-miR-4530	CLIP-seq
MIRT1988389	hsa-miR-4537	CLIP-seq
MIRT2222854	hsa-miR-4645-5p	CLIP-seq
MIRT973438	hsa-miR-4646-5p	CLIP-seq
MIRT973439	hsa-miR-4649-3p	CLIP-seq
MIRT2222855	hsa-miR-4673	CLIP-seq
MIRT2222856	hsa-miR-4691-3p	CLIP-seq
MIRT1988391	hsa-miR-4699-3p	CLIP-seq
MIRT973444	hsa-miR-4722-5p	CLIP-seq
MIRT973445	hsa-miR-4728-5p	CLIP-seq
MIRT2222857	hsa-miR-4729	CLIP-seq
MIRT2222858	hsa-miR-4747-5p	CLIP-seq
MIRT973446	hsa-miR-4768-3p	CLIP-seq
MIRT973448	hsa-miR-4786-5p	CLIP-seq
MIRT973451	hsa-miR-485-5p	CLIP-seq
MIRT973452	hsa-miR-490-3p	CLIP-seq
MIRT1988398	hsa-miR-495	CLIP-seq
MIRT973454	hsa-miR-508-5p	CLIP-seq
MIRT2222859	hsa-miR-509-3p	CLIP-seq
MIRT1988399	hsa-miR-5095	CLIP-seq
MIRT2222860	hsa-miR-5096	CLIP-seq
MIRT2222861	hsa-miR-520d-5p	CLIP-seq
MIRT2222862	hsa-miR-524-5p	CLIP-seq
MIRT973463	hsa-miR-541	CLIP-seq
MIRT973464	hsa-miR-544b	CLIP-seq
MIRT2222863	hsa-miR-548an	CLIP-seq
MIRT973467	hsa-miR-548s	CLIP-seq
MIRT2222864	hsa-miR-561	CLIP-seq
MIRT973470	hsa-miR-585	CLIP-seq
MIRT973471	hsa-miR-593	CLIP-seq
MIRT973472	hsa-miR-612	CLIP-seq
MIRT2222865	hsa-miR-622	CLIP-seq
MIRT973474	hsa-miR-654-5p	CLIP-seq
MIRT973475	hsa-miR-661	CLIP-seq
MIRT973478	hsa-miR-766	CLIP-seq
MIRT973480	hsa-miR-876-3p	CLIP-seq
MIRT973482	hsa-miR-92a	CLIP-seq
MIRT973483	hsa-miR-92b	CLIP-seq
MIRT973484	hsa-miR-940	CLIP-seq
MIRT973368	hsa-miR-1233	CLIP-seq
MIRT973375	hsa-miR-1827	CLIP-seq
MIRT2387578	hsa-miR-2114	CLIP-seq
MIRT2387579	hsa-miR-2964a-3p	CLIP-seq
MIRT973394	hsa-miR-3192	CLIP-seq
MIRT973398	hsa-miR-326	CLIP-seq
MIRT973399	hsa-miR-330-5p	CLIP-seq
MIRT973410	hsa-miR-3689a-3p	CLIP-seq
MIRT973411	hsa-miR-3689c	CLIP-seq
MIRT973418	hsa-miR-3926	CLIP-seq
MIRT973419	hsa-miR-3929	CLIP-seq
MIRT973425	hsa-miR-4314	CLIP-seq
MIRT973427	hsa-miR-4419b	CLIP-seq
MIRT973432	hsa-miR-4478	CLIP-seq
MIRT973438	hsa-miR-4646-5p	CLIP-seq
MIRT973439	hsa-miR-4649-3p	CLIP-seq
MIRT973444	hsa-miR-4722-5p	CLIP-seq
MIRT973445	hsa-miR-4728-5p	CLIP-seq
MIRT973446	hsa-miR-4768-3p	CLIP-seq
MIRT973451	hsa-miR-485-5p	CLIP-seq
MIRT1988398	hsa-miR-495	CLIP-seq
MIRT973453	hsa-miR-500a	CLIP-seq
MIRT973467	hsa-miR-548s	CLIP-seq
MIRT2387580	hsa-miR-550a	CLIP-seq
MIRT973471	hsa-miR-593	CLIP-seq
MIRT2387581	hsa-miR-890	CLIP-seq
MIRT973484	hsa-miR-940	CLIP-seq
MIRT2437112	hsa-miR-3674	CLIP-seq
MIRT2222860	hsa-miR-5096	CLIP-seq
MIRT2437113	hsa-miR-579	CLIP-seq
MIRT973370	hsa-miR-1268	CLIP-seq
MIRT973371	hsa-miR-1268b	CLIP-seq
MIRT973375	hsa-miR-1827	CLIP-seq
MIRT973388	hsa-miR-3122	CLIP-seq
MIRT973394	hsa-miR-3192	CLIP-seq
MIRT973397	hsa-miR-323-5p	CLIP-seq
MIRT973410	hsa-miR-3689a-3p	CLIP-seq
MIRT973411	hsa-miR-3689c	CLIP-seq
MIRT973417	hsa-miR-3913-5p	CLIP-seq
MIRT973418	hsa-miR-3926	CLIP-seq
MIRT973419	hsa-miR-3929	CLIP-seq
MIRT973427	hsa-miR-4419b	CLIP-seq
MIRT973432	hsa-miR-4478	CLIP-seq
MIRT973433	hsa-miR-4486	CLIP-seq
MIRT973437	hsa-miR-4530	CLIP-seq
MIRT973439	hsa-miR-4649-3p	CLIP-seq
MIRT973440	hsa-miR-4684-5p	CLIP-seq
MIRT973444	hsa-miR-4722-5p	CLIP-seq
MIRT973445	hsa-miR-4728-5p	CLIP-seq
MIRT973446	hsa-miR-4768-3p	CLIP-seq
MIRT973451	hsa-miR-485-5p	CLIP-seq
MIRT973452	hsa-miR-490-3p	CLIP-seq
MIRT973463	hsa-miR-541	CLIP-seq
MIRT973465	hsa-miR-548c-3p	CLIP-seq
MIRT973467	hsa-miR-548s	CLIP-seq
MIRT973470	hsa-miR-585	CLIP-seq
MIRT973471	hsa-miR-593	CLIP-seq
MIRT973474	hsa-miR-654-5p	CLIP-seq
MIRT973480	hsa-miR-876-3p	CLIP-seq
MIRT973484	hsa-miR-940	CLIP-seq
MIRT973370	hsa-miR-1268	CLIP-seq
MIRT973371	hsa-miR-1268b	CLIP-seq
MIRT973433	hsa-miR-4486	CLIP-seq
MIRT973465	hsa-miR-548c-3p	CLIP-seq
MIRT973470	hsa-miR-585	CLIP-seq
MIRT973471	hsa-miR-593	CLIP-seq
MIRT973368	hsa-miR-1233	CLIP-seq
MIRT973370	hsa-miR-1268	CLIP-seq
MIRT973371	hsa-miR-1268b	CLIP-seq
MIRT2222831	hsa-miR-1276	CLIP-seq
MIRT973373	hsa-miR-1285	CLIP-seq
MIRT2526558	hsa-miR-129-3p	CLIP-seq
MIRT2526559	hsa-miR-141	CLIP-seq
MIRT973375	hsa-miR-1827	CLIP-seq
MIRT2526560	hsa-miR-185	CLIP-seq
MIRT2526561	hsa-miR-193a-3p	CLIP-seq
MIRT2526562	hsa-miR-193b	CLIP-seq
MIRT2526563	hsa-miR-200a	CLIP-seq
MIRT2387578	hsa-miR-2114	CLIP-seq
MIRT2526564	hsa-miR-2278	CLIP-seq
MIRT973378	hsa-miR-24	CLIP-seq
MIRT973379	hsa-miR-25	CLIP-seq
MIRT2526565	hsa-miR-28-5p	CLIP-seq
MIRT2387579	hsa-miR-2964a-3p	CLIP-seq
MIRT2526566	hsa-miR-299-3p	CLIP-seq
MIRT973387	hsa-miR-3120-5p	CLIP-seq
MIRT2526567	hsa-miR-3121-3p	CLIP-seq
MIRT973388	hsa-miR-3122	CLIP-seq
MIRT2526568	hsa-miR-3139	CLIP-seq
MIRT2526569	hsa-miR-3140-5p	CLIP-seq
MIRT2222841	hsa-miR-3157-5p	CLIP-seq
MIRT2526570	hsa-miR-3187-3p	CLIP-seq
MIRT973393	hsa-miR-3187-5p	CLIP-seq
MIRT973394	hsa-miR-3192	CLIP-seq
MIRT2526571	hsa-miR-3194-3p	CLIP-seq
MIRT973395	hsa-miR-32	CLIP-seq
MIRT973397	hsa-miR-323-5p	CLIP-seq
MIRT973398	hsa-miR-326	CLIP-seq
MIRT973399	hsa-miR-330-5p	CLIP-seq
MIRT2526572	hsa-miR-34b	CLIP-seq
MIRT973403	hsa-miR-3622a-3p	CLIP-seq
MIRT2526573	hsa-miR-3622a-5p	CLIP-seq
MIRT973404	hsa-miR-3622b-3p	CLIP-seq
MIRT973405	hsa-miR-363	CLIP-seq
MIRT973406	hsa-miR-3664-5p	CLIP-seq
MIRT973407	hsa-miR-367	CLIP-seq
MIRT973408	hsa-miR-3672	CLIP-seq
MIRT973410	hsa-miR-3689a-3p	CLIP-seq
MIRT973411	hsa-miR-3689c	CLIP-seq
MIRT973412	hsa-miR-371-5p	CLIP-seq
MIRT973413	hsa-miR-371b-5p	CLIP-seq
MIRT973417	hsa-miR-3913-5p	CLIP-seq
MIRT973418	hsa-miR-3926	CLIP-seq
MIRT973419	hsa-miR-3929	CLIP-seq
MIRT1988386	hsa-miR-3937	CLIP-seq
MIRT2526574	hsa-miR-4265	CLIP-seq
MIRT973421	hsa-miR-4266	CLIP-seq
MIRT2526575	hsa-miR-4269	CLIP-seq
MIRT2526576	hsa-miR-4275	CLIP-seq
MIRT973424	hsa-miR-4284	CLIP-seq
MIRT2526577	hsa-miR-4296	CLIP-seq
MIRT2526578	hsa-miR-4306	CLIP-seq
MIRT2526579	hsa-miR-4311	CLIP-seq
MIRT973425	hsa-miR-4314	CLIP-seq
MIRT2526580	hsa-miR-4322	CLIP-seq
MIRT973426	hsa-miR-4325	CLIP-seq
MIRT2526581	hsa-miR-4417	CLIP-seq
MIRT973427	hsa-miR-4419b	CLIP-seq
MIRT2526582	hsa-miR-4420	CLIP-seq
MIRT973431	hsa-miR-4452	CLIP-seq
MIRT2526583	hsa-miR-4470	CLIP-seq
MIRT973432	hsa-miR-4478	CLIP-seq
MIRT973433	hsa-miR-4486	CLIP-seq
MIRT2526584	hsa-miR-4504	CLIP-seq
MIRT973435	hsa-miR-4522	CLIP-seq
MIRT2526585	hsa-miR-4529-5p	CLIP-seq
MIRT973437	hsa-miR-4530	CLIP-seq
MIRT1988389	hsa-miR-4537	CLIP-seq
MIRT2526586	hsa-miR-4539	CLIP-seq
MIRT2526587	hsa-miR-4640-5p	CLIP-seq
MIRT2526588	hsa-miR-4644	CLIP-seq
MIRT2222854	hsa-miR-4645-5p	CLIP-seq
MIRT973438	hsa-miR-4646-5p	CLIP-seq
MIRT973439	hsa-miR-4649-3p	CLIP-seq
MIRT2222855	hsa-miR-4673	CLIP-seq
MIRT1988390	hsa-miR-4679	CLIP-seq
MIRT2526589	hsa-miR-4680-3p	CLIP-seq
MIRT973440	hsa-miR-4684-5p	CLIP-seq
MIRT2222856	hsa-miR-4691-3p	CLIP-seq
MIRT1988392	hsa-miR-4714-5p	CLIP-seq
MIRT973444	hsa-miR-4722-5p	CLIP-seq
MIRT2526590	hsa-miR-4724-3p	CLIP-seq
MIRT2526591	hsa-miR-4724-5p	CLIP-seq
MIRT2526592	hsa-miR-4726-5p	CLIP-seq
MIRT973445	hsa-miR-4728-5p	CLIP-seq
MIRT2526593	hsa-miR-4755-3p	CLIP-seq
MIRT973446	hsa-miR-4768-3p	CLIP-seq
MIRT2526594	hsa-miR-4777-5p	CLIP-seq
MIRT973449	hsa-miR-4797-5p	CLIP-seq
MIRT973451	hsa-miR-485-5p	CLIP-seq
MIRT973452	hsa-miR-490-3p	CLIP-seq
MIRT973453	hsa-miR-500a	CLIP-seq
MIRT973454	hsa-miR-508-5p	CLIP-seq
MIRT2222860	hsa-miR-5096	CLIP-seq
MIRT973456	hsa-miR-516b	CLIP-seq
MIRT2222861	hsa-miR-520d-5p	CLIP-seq
MIRT2222862	hsa-miR-524-5p	CLIP-seq
MIRT2526595	hsa-miR-539	CLIP-seq
MIRT973463	hsa-miR-541	CLIP-seq
MIRT2526596	hsa-miR-544	CLIP-seq
MIRT973464	hsa-miR-544b	CLIP-seq
MIRT973465	hsa-miR-548c-3p	CLIP-seq
MIRT1988402	hsa-miR-548o	CLIP-seq
MIRT973467	hsa-miR-548s	CLIP-seq
MIRT2387580	hsa-miR-550a	CLIP-seq
MIRT2526597	hsa-miR-564	CLIP-seq
MIRT2526598	hsa-miR-577	CLIP-seq
MIRT2526599	hsa-miR-583	CLIP-seq
MIRT973470	hsa-miR-585	CLIP-seq
MIRT973471	hsa-miR-593	CLIP-seq
MIRT2526600	hsa-miR-605	CLIP-seq
MIRT973472	hsa-miR-612	CLIP-seq
MIRT973474	hsa-miR-654-5p	CLIP-seq
MIRT973475	hsa-miR-661	CLIP-seq
MIRT2526601	hsa-miR-708	CLIP-seq
MIRT973476	hsa-miR-759	CLIP-seq
MIRT973477	hsa-miR-765	CLIP-seq
MIRT973478	hsa-miR-766	CLIP-seq
MIRT973480	hsa-miR-876-3p	CLIP-seq
MIRT2387581	hsa-miR-890	CLIP-seq
MIRT973482	hsa-miR-92a	CLIP-seq
MIRT973483	hsa-miR-92b	CLIP-seq
MIRT2526602	hsa-miR-938	CLIP-seq
MIRT973484	hsa-miR-940	CLIP-seq
MIRT973368	hsa-miR-1233	CLIP-seq
MIRT973370	hsa-miR-1268	CLIP-seq
MIRT973371	hsa-miR-1268b	CLIP-seq
MIRT973373	hsa-miR-1285	CLIP-seq
MIRT2526558	hsa-miR-129-3p	CLIP-seq
MIRT2526559	hsa-miR-141	CLIP-seq
MIRT973375	hsa-miR-1827	CLIP-seq
MIRT2526560	hsa-miR-185	CLIP-seq
MIRT2526561	hsa-miR-193a-3p	CLIP-seq
MIRT2526562	hsa-miR-193b	CLIP-seq
MIRT2526563	hsa-miR-200a	CLIP-seq
MIRT2526564	hsa-miR-2278	CLIP-seq
MIRT973378	hsa-miR-24	CLIP-seq
MIRT973379	hsa-miR-25	CLIP-seq
MIRT2526565	hsa-miR-28-5p	CLIP-seq
MIRT2526566	hsa-miR-299-3p	CLIP-seq
MIRT973387	hsa-miR-3120-5p	CLIP-seq
MIRT2526567	hsa-miR-3121-3p	CLIP-seq
MIRT973388	hsa-miR-3122	CLIP-seq
MIRT2526568	hsa-miR-3139	CLIP-seq
MIRT2526569	hsa-miR-3140-5p	CLIP-seq
MIRT2222841	hsa-miR-3157-5p	CLIP-seq
MIRT2526570	hsa-miR-3187-3p	CLIP-seq
MIRT973393	hsa-miR-3187-5p	CLIP-seq
MIRT973394	hsa-miR-3192	CLIP-seq
MIRT973395	hsa-miR-32	CLIP-seq
MIRT973397	hsa-miR-323-5p	CLIP-seq
MIRT2526572	hsa-miR-34b	CLIP-seq
MIRT973403	hsa-miR-3622a-3p	CLIP-seq
MIRT2526573	hsa-miR-3622a-5p	CLIP-seq
MIRT973404	hsa-miR-3622b-3p	CLIP-seq
MIRT973405	hsa-miR-363	CLIP-seq
MIRT973406	hsa-miR-3664-5p	CLIP-seq
MIRT973407	hsa-miR-367	CLIP-seq
MIRT973408	hsa-miR-3672	CLIP-seq
MIRT2437112	hsa-miR-3674	CLIP-seq
MIRT973410	hsa-miR-3689a-3p	CLIP-seq
MIRT973411	hsa-miR-3689c	CLIP-seq
MIRT973412	hsa-miR-371-5p	CLIP-seq
MIRT973413	hsa-miR-371b-5p	CLIP-seq
MIRT973417	hsa-miR-3913-5p	CLIP-seq
MIRT973418	hsa-miR-3926	CLIP-seq
MIRT973419	hsa-miR-3929	CLIP-seq
MIRT2526574	hsa-miR-4265	CLIP-seq
MIRT973421	hsa-miR-4266	CLIP-seq
MIRT2526575	hsa-miR-4269	CLIP-seq
MIRT2526576	hsa-miR-4275	CLIP-seq
MIRT973424	hsa-miR-4284	CLIP-seq
MIRT2526577	hsa-miR-4296	CLIP-seq
MIRT2526578	hsa-miR-4306	CLIP-seq
MIRT2526580	hsa-miR-4322	CLIP-seq
MIRT973426	hsa-miR-4325	CLIP-seq
MIRT2526581	hsa-miR-4417	CLIP-seq
MIRT973427	hsa-miR-4419b	CLIP-seq
MIRT2526582	hsa-miR-4420	CLIP-seq
MIRT2680402	hsa-miR-4432	CLIP-seq
MIRT2526583	hsa-miR-4470	CLIP-seq
MIRT973432	hsa-miR-4478	CLIP-seq
MIRT973433	hsa-miR-4486	CLIP-seq
MIRT2526584	hsa-miR-4504	CLIP-seq
MIRT973435	hsa-miR-4522	CLIP-seq
MIRT2526585	hsa-miR-4529-5p	CLIP-seq
MIRT973437	hsa-miR-4530	CLIP-seq
MIRT1988389	hsa-miR-4537	CLIP-seq
MIRT2526586	hsa-miR-4539	CLIP-seq
MIRT2526587	hsa-miR-4640-5p	CLIP-seq
MIRT2526588	hsa-miR-4644	CLIP-seq
MIRT2222854	hsa-miR-4645-5p	CLIP-seq
MIRT2222855	hsa-miR-4673	CLIP-seq
MIRT2526589	hsa-miR-4680-3p	CLIP-seq
MIRT973440	hsa-miR-4684-5p	CLIP-seq
MIRT2222856	hsa-miR-4691-3p	CLIP-seq
MIRT973444	hsa-miR-4722-5p	CLIP-seq
MIRT2526590	hsa-miR-4724-3p	CLIP-seq
MIRT2526591	hsa-miR-4724-5p	CLIP-seq
MIRT2526592	hsa-miR-4726-5p	CLIP-seq
MIRT973445	hsa-miR-4728-5p	CLIP-seq
MIRT2526593	hsa-miR-4755-3p	CLIP-seq
MIRT973446	hsa-miR-4768-3p	CLIP-seq
MIRT2526594	hsa-miR-4777-5p	CLIP-seq
MIRT973449	hsa-miR-4797-5p	CLIP-seq
MIRT973451	hsa-miR-485-5p	CLIP-seq
MIRT973452	hsa-miR-490-3p	CLIP-seq
MIRT973454	hsa-miR-508-5p	CLIP-seq
MIRT2222860	hsa-miR-5096	CLIP-seq
MIRT2222861	hsa-miR-520d-5p	CLIP-seq
MIRT2222862	hsa-miR-524-5p	CLIP-seq
MIRT2526595	hsa-miR-539	CLIP-seq
MIRT973463	hsa-miR-541	CLIP-seq
MIRT2526596	hsa-miR-544	CLIP-seq
MIRT973465	hsa-miR-548c-3p	CLIP-seq
MIRT1988402	hsa-miR-548o	CLIP-seq
MIRT973467	hsa-miR-548s	CLIP-seq
MIRT2526597	hsa-miR-564	CLIP-seq
MIRT2526598	hsa-miR-577	CLIP-seq
MIRT2437113	hsa-miR-579	CLIP-seq
MIRT973470	hsa-miR-585	CLIP-seq
MIRT973471	hsa-miR-593	CLIP-seq
MIRT2526600	hsa-miR-605	CLIP-seq
MIRT973472	hsa-miR-612	CLIP-seq
MIRT973474	hsa-miR-654-5p	CLIP-seq
MIRT973475	hsa-miR-661	CLIP-seq
MIRT2526601	hsa-miR-708	CLIP-seq
MIRT973476	hsa-miR-759	CLIP-seq
MIRT973477	hsa-miR-765	CLIP-seq
MIRT973478	hsa-miR-766	CLIP-seq
MIRT973480	hsa-miR-876-3p	CLIP-seq
MIRT973482	hsa-miR-92a	CLIP-seq
MIRT973483	hsa-miR-92b	CLIP-seq
MIRT2526602	hsa-miR-938	CLIP-seq
MIRT973484	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003334	Process	Keratinocyte development	IMP	23176819
GO:0005768	Component	Endosome	IBA
GO:0005768	Component	Endosome	IDA	19966785
GO:0006886	Process	Intracellular protein transport	IEA
GO:0031267	Function	Small GTPase binding	IEA
GO:0031267	Function	Small GTPase binding	IPI	16880209
GO:0045921	Process	Positive regulation of exocytosis	IBA
GO:0045921	Process	Positive regulation of exocytosis	IMP	19966785
GO:0050714	Process	Positive regulation of protein secretion	IBA
GO:0050714	Process	Positive regulation of protein secretion	IMP	19966785
GO:0071985	Process	Multivesicular body sorting pathway	IBA
GO:0071985	Process	Multivesicular body sorting pathway	IMP	19966785

Other IDs

• MIM: 612878
• HGNC: 30578
• e!Ensembl: ENSG00000110723

Protein

• UniProt ID: Q8NEV8
• Protein name: Exophilin-5 (Synaptotagmin-like protein homolog lacking C2 domains b) (SlaC2-b) (Slp homolog lacking C2 domains b)
• Protein function: May act as Rab effector protein and play a role in vesicle trafficking.
• Tissue specificity: TISSUE SPECIFICITY: Expressed in keratinocytes. {ECO:0000269|PubMed:23176819}.
• Sequence:

  MTKVPPAFDFSFLNDEEARKILQVLERNEELQRAEKDRISKLQKTKRDIRWLQGVTGEWF
  EEIQRKKFCNETDVSQMLKQPLTYRLSKEMAKNDPIELPTSRSKNVTNQKKPTPFSSRMS
  FRSSFASLFSFRKSGKETSKLPSLGQKGCDGHAGPPMPVRGAAVQAKIYNSPLENHLVDS
  TFVPKPAVMREESGMPPPWDASLLENEFFQVLDDLDSKLAQEQSASSVNTRTPLNYGSRT
  QFGHFYSSGNRHGNITERHKKHYNETSNMSIYDILRPGTPREGFKTFSPRTSTIYDMYRT
  REPRVFKEDYVQKNTFGSTSLCFDSRQRSALPATGHFTARSLHFPATTQSKSGFIPPRHQ
  QSPKRTPLSSIIWNRSDSSRDRENQEEFLRAPSPMEIDPADKYVYPRGFQENKRYESYHS
  QNVYQRVSLNAPMENAMSPDTFENSENMPFYHQSNTFTRSFFSNTFGRSGEQRRFGQGPF
  WGQEKGHSFWSDFHRSRKSFSSSDRDFEMISMEANSVSAIHGHNVSSEHWESFSSGYGTD
  VSRGQEEPHPWQFDFQRSTLDSMVVSHGNETQLTPHFGTPNVCSMTGSSYHVKSSELVSQ
  QDSSPVEVHINKEASSFGIAQTLASSFKTSFSQISDDRRNPQSPNLQNPTVTLQKIFPNK
  PASHPMRSHTEVTVTSSNSVDSLPLAKSQPNILVTEVNNEKDLNESISEEDKQLSKMDQT
  NKAGEIPQPVSQTGISNSLPDFQNPLSQDSAKSNGFGFNASTIISSKKSPRVFSRKDTSK
  MYIPHTDKSNDIKQDKRFTENRKLGSTASLPFIQEHRTPPSFPRTDQGCHQELTVNNEDI
  SRIITNNHWSSALTDTQNAQYSKCKLTPGHKTSCDSLDLSSAALPDSSPSKNSSLDAPVV
  PSTTVFSRRSPSDKDPSLGEREEKDNAGKNQKNQFIVSHSENQERNDSPVPTHDEVVDVK
  CHSHSPFRNERGKGKIRHHISCIEKLSKTESISVPTSDHRSLIEANQSNSKVSELDTIYC
  TLPRKSSSFLIHGRQSGSKIMAASLRNGPPPFQIKNNVEDAMGNYMLNKFSPSSPESANE
  CSKVLSDSALEAPEATERMTNVKSSGSTSVRKGPLPFLINRAMSCPSGEPHASTGREGRK
  KPLTSGMDASELTPRAWERIISPVESDSSVRDCSLTKRQHQKENFQEYTEKEGKMAASRR
  SVFALSNEDPLPFCSDLSGKERGKTLHKVKTTSTFSVSGDEDNVKCLEVVSIYYTLPRKP
  SKKFCNLLQQYTQNTNLLIESPQVETETFPNALEKDKQNYSTREQSGTPSCENLKMSVNS
  DQTLTTENMTAFRLSNRGPLAPTLQEMASVEAAVSLPEEESKAREIFSDNLAKTPLGDSE
  NKKERGKKLQSETLHTSLMLQRKNVSEEKSENCQQSINSSNSGPSSLPALSEVNIGNSQT
  RRSSWECTGSGRAIPFTGSGKCPQKDHTSTAVGDGSSGSQPREGRGDIGTNCQKMTNKTL
  SHSESQVFALTPALHKLQLGEETQSDEPNLESLQSEPRELPQRSQEANMTESRKAEDEMQ
  KSAWDQPSLPEGNKNKTNLDDLVKGENRSSVKHRLAAMSKASRKFPAKDVSPRRHVATIF
  PQSGSRSGFDHLSLGTVECNPLFPEPTPKSAESIGESRLSENGKHVKKSENLLPITVLPN
  REPSTHVSNQKSNSISQRHQNEFKNVSESPSKHENSKDVTAAQNLVRESGAPSPITFTSL
  REAEFSDNQRRLSPPFPLEPAQKSRVSSPLASFLQQQRSASSLEWEPEPHLYRSKSLKSI
  NVHGDLLRKSHPPKVRERHFSESTSIDNALSRLTLGNEFSVNNGYSRRFRSFSELPSCDG
  NESWAYRSGTKTGPRSAISIYRPIDYGIFGKEQQLAFLENVKRSLTQGRLWKPSFLKNPG
  FLKDDLRNPPNPSESLSSNSPSSQVPEDGLSPSEPLNIYEDDPVDSNCDTDTTTDDEYYL
  DENDKESEL

• Sequence length: 1989

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
Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive	Pathogenic; Likely pathogenic	rs2135927905, rs1305450457, rs2135924347, rs763930645, rs2135912697, rs2135920313, rs1228319313, rs747159785, rs763170220, rs749309384	RCV001765142 RCV001765143 RCV001765144 RCV001765145 RCV001765146 RCV001765147 RCV001765148 RCV001783218 RCV002272701 RCV001787092	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEAR CELL RENAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA SIMPLEX	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIDERMOLYSIS BULLOSA SIMPLEX DUE TO EXOPHILIN 5 DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EXPH5-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Blister	Blister	Pubtator	23176819, 32890627	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa	Epidermolysis Bullosa	BEFREE	27384765, 30016581		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis Bullosa	Epidermolysis Bullosa	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis Bullosa Simplex	Epidermolysis Bullosa Simplex	BEFREE	24443915, 27384765, 27730671		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis Bullosa Simplex	Epidermolysis Bullosa Simplex	GENOMICS_ENGLAND_DG	26719633, 27730671		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis Bullosa Simplex	Epidermolysis bullosa	Pubtator	32890627	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis bullosa simplex due to exophilin 5 deficiency	Epidermolysis Bullosa Simplex	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolysis bullosa simplex with mottled pigmentation	Epidermolysis Bullosa Simplex With Mottled Pigmentation	BEFREE	27384765		★☆☆☆☆ Found in Text Mining only
EPIDERMOLYSIS BULLOSA, NONSPECIFIC, AUTOSOMAL RECESSIVE	Epidermolysis Bullosa Simplex	ORPHANET_DG	23176819		★☆☆☆☆ Found in Text Mining only
EPIDERMOLYSIS BULLOSA, NONSPECIFIC, AUTOSOMAL RECESSIVE	Epidermolysis Bullosa Simplex	GENOMICS_ENGLAND_DG	23176819, 26719633, 27730671		★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Junctional Epidermolysis Bullosa	Junctional Epidermolysis Bullosa	BEFREE	30016581		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25576648		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	36746116	Associate	★☆☆☆☆ Found in Text Mining only