SHROOM4 (shroom family member 4)

Gene

• Entrez ID: 57477
• Gene name: Shroom family member 4
• Gene symbol: SHROOM4
• Synonyms (NCBI Gene): MRXSSDS, SHAP, shrm4
• Chromosome: X
• Chromosome location: Xp11.22
• Summary: This gene encodes a member of the APX/Shroom family, which contain an N-terminal PDZ domain and a C-terminal ASD2 motif. The encoded protein may play a role in cytoskeletal architecture. Mutations in this gene have been linked to the X-linked Stocco dos S

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434620	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs886041718	G>A	Pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018002	hsa-miR-335-5p	Microarray	18185580
MIRT712200	hsa-miR-1306-5p	HITS-CLIP	19536157
MIRT712199	hsa-miR-6729-3p	HITS-CLIP	19536157
MIRT712198	hsa-miR-5196-3p	HITS-CLIP	19536157
MIRT712197	hsa-miR-6072	HITS-CLIP	19536157
MIRT712196	hsa-miR-6891-3p	HITS-CLIP	19536157
MIRT712195	hsa-miR-6875-3p	HITS-CLIP	19536157
MIRT712194	hsa-miR-4659a-3p	HITS-CLIP	19536157
MIRT712193	hsa-miR-4659b-3p	HITS-CLIP	19536157
MIRT632423	hsa-miR-122-3p	HITS-CLIP	23824327
MIRT632422	hsa-miR-4661-5p	HITS-CLIP	23824327
MIRT676813	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT653827	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT653828	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT676812	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT676811	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT676810	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT632421	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT676809	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT676808	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT676807	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT676806	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT679129	hsa-miR-4279	HITS-CLIP	23824327
MIRT632423	hsa-miR-122-3p	HITS-CLIP	23824327
MIRT632422	hsa-miR-4661-5p	HITS-CLIP	23824327
MIRT676813	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT676812	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT676811	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT676810	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT676809	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT676808	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT676807	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT676806	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT632422	hsa-miR-4661-5p	HITS-CLIP	23824327
MIRT653827	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT653828	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT674601	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT653826	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT653825	hsa-miR-1976	HITS-CLIP	23824327
MIRT632421	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT632423	hsa-miR-122-3p	HITS-CLIP	23824327
MIRT632422	hsa-miR-4661-5p	HITS-CLIP	23824327
MIRT653827	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT653828	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT653826	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT653825	hsa-miR-1976	HITS-CLIP	23824327
MIRT632421	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT632423	hsa-miR-122-3p	HITS-CLIP	23824327
MIRT632422	hsa-miR-4661-5p	HITS-CLIP	23824327
MIRT632421	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT521131	hsa-miR-6858-3p	PAR-CLIP	23446348
MIRT521129	hsa-miR-4676-5p	PAR-CLIP	23446348
MIRT521130	hsa-miR-575	PAR-CLIP	23446348
MIRT521128	hsa-miR-2392	PAR-CLIP	23446348
MIRT521127	hsa-miR-296-3p	PAR-CLIP	23446348
MIRT521126	hsa-miR-6832-5p	PAR-CLIP	23446348
MIRT521125	hsa-miR-3152-3p	PAR-CLIP	23446348
MIRT521124	hsa-miR-4662a-5p	PAR-CLIP	23446348
MIRT521123	hsa-miR-5096	PAR-CLIP	23446348
MIRT712200	hsa-miR-1306-5p	HITS-CLIP	19536157
MIRT712199	hsa-miR-6729-3p	HITS-CLIP	19536157
MIRT712198	hsa-miR-5196-3p	HITS-CLIP	19536157
MIRT712197	hsa-miR-6072	HITS-CLIP	19536157
MIRT712196	hsa-miR-6891-3p	HITS-CLIP	19536157
MIRT712195	hsa-miR-6875-3p	HITS-CLIP	19536157
MIRT712194	hsa-miR-4659a-3p	HITS-CLIP	19536157
MIRT712193	hsa-miR-4659b-3p	HITS-CLIP	19536157
MIRT632423	hsa-miR-122-3p	HITS-CLIP	23824327
MIRT632422	hsa-miR-4661-5p	HITS-CLIP	23824327
MIRT676813	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT653827	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT653828	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT676812	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT676811	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT676810	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT632421	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT676809	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT676808	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT676807	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT676806	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT679129	hsa-miR-4279	HITS-CLIP	23824327
MIRT632423	hsa-miR-122-3p	HITS-CLIP	23824327
MIRT632422	hsa-miR-4661-5p	HITS-CLIP	23824327
MIRT676813	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT676812	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT676811	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT676810	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT676809	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT676808	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT676807	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT676806	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT632422	hsa-miR-4661-5p	HITS-CLIP	23824327
MIRT653827	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT653828	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT674601	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT653826	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT653825	hsa-miR-1976	HITS-CLIP	23824327
MIRT632421	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT632423	hsa-miR-122-3p	HITS-CLIP	23824327
MIRT632422	hsa-miR-4661-5p	HITS-CLIP	23824327
MIRT653827	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT653828	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT653826	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT653825	hsa-miR-1976	HITS-CLIP	23824327
MIRT632421	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT632423	hsa-miR-122-3p	HITS-CLIP	23824327
MIRT632422	hsa-miR-4661-5p	HITS-CLIP	23824327
MIRT632421	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT521131	hsa-miR-6858-3p	PAR-CLIP	23446348
MIRT521129	hsa-miR-4676-5p	PAR-CLIP	23446348
MIRT521130	hsa-miR-575	PAR-CLIP	23446348
MIRT521128	hsa-miR-2392	PAR-CLIP	23446348
MIRT521127	hsa-miR-296-3p	PAR-CLIP	23446348
MIRT521126	hsa-miR-6832-5p	PAR-CLIP	23446348
MIRT521125	hsa-miR-3152-3p	PAR-CLIP	23446348
MIRT521124	hsa-miR-4662a-5p	PAR-CLIP	23446348
MIRT521123	hsa-miR-5096	PAR-CLIP	23446348
MIRT1347996	hsa-miR-105	CLIP-seq
MIRT1347997	hsa-miR-1193	CLIP-seq
MIRT1347998	hsa-miR-1197	CLIP-seq
MIRT1347999	hsa-miR-1233	CLIP-seq
MIRT1348000	hsa-miR-1267	CLIP-seq
MIRT1348001	hsa-miR-1271	CLIP-seq
MIRT1348002	hsa-miR-1303	CLIP-seq
MIRT1348003	hsa-miR-145	CLIP-seq
MIRT1348004	hsa-miR-15a	CLIP-seq
MIRT1348005	hsa-miR-15b	CLIP-seq
MIRT1348006	hsa-miR-16	CLIP-seq
MIRT1348007	hsa-miR-182	CLIP-seq
MIRT1348008	hsa-miR-185	CLIP-seq
MIRT1348009	hsa-miR-190	CLIP-seq
MIRT1348010	hsa-miR-190b	CLIP-seq
MIRT1348011	hsa-miR-193a-3p	CLIP-seq
MIRT1348012	hsa-miR-193b	CLIP-seq
MIRT1348013	hsa-miR-195	CLIP-seq
MIRT1348014	hsa-miR-216b	CLIP-seq
MIRT1348015	hsa-miR-217	CLIP-seq
MIRT1348016	hsa-miR-2278	CLIP-seq
MIRT1348017	hsa-miR-298	CLIP-seq
MIRT1348018	hsa-miR-3119	CLIP-seq
MIRT1348019	hsa-miR-3120-5p	CLIP-seq
MIRT1348020	hsa-miR-3125	CLIP-seq
MIRT1348021	hsa-miR-3165	CLIP-seq
MIRT1348022	hsa-miR-3175	CLIP-seq
MIRT1348023	hsa-miR-3180-5p	CLIP-seq
MIRT1348024	hsa-miR-3187-3p	CLIP-seq
MIRT1348025	hsa-miR-3192	CLIP-seq
MIRT1348026	hsa-miR-3199	CLIP-seq
MIRT1348027	hsa-miR-330-3p	CLIP-seq
MIRT1348028	hsa-miR-3652	CLIP-seq
MIRT1348029	hsa-miR-3677-5p	CLIP-seq
MIRT1348030	hsa-miR-3682-3p	CLIP-seq
MIRT1348031	hsa-miR-3689a-3p	CLIP-seq
MIRT1348032	hsa-miR-3689c	CLIP-seq
MIRT1348033	hsa-miR-3689d	CLIP-seq
MIRT1348034	hsa-miR-3916	CLIP-seq
MIRT1348035	hsa-miR-424	CLIP-seq
MIRT1348036	hsa-miR-4270	CLIP-seq
MIRT1348037	hsa-miR-4275	CLIP-seq
MIRT1348038	hsa-miR-4292	CLIP-seq
MIRT1348039	hsa-miR-4297	CLIP-seq
MIRT1348040	hsa-miR-4306	CLIP-seq
MIRT1348041	hsa-miR-432	CLIP-seq
MIRT1348042	hsa-miR-4430	CLIP-seq
MIRT1348043	hsa-miR-4441	CLIP-seq
MIRT1348044	hsa-miR-4445	CLIP-seq
MIRT1348045	hsa-miR-4460	CLIP-seq
MIRT1348046	hsa-miR-4466	CLIP-seq
MIRT1348047	hsa-miR-4504	CLIP-seq
MIRT1348048	hsa-miR-4505	CLIP-seq
MIRT1348049	hsa-miR-4529-5p	CLIP-seq
MIRT1348050	hsa-miR-4644	CLIP-seq
MIRT1348051	hsa-miR-4687-3p	CLIP-seq
MIRT1348052	hsa-miR-4694-3p	CLIP-seq
MIRT1348053	hsa-miR-4695-3p	CLIP-seq
MIRT1348054	hsa-miR-4704-5p	CLIP-seq
MIRT1348055	hsa-miR-4712-5p	CLIP-seq
MIRT1348056	hsa-miR-4719	CLIP-seq
MIRT1348057	hsa-miR-4727-3p	CLIP-seq
MIRT1348058	hsa-miR-4728-5p	CLIP-seq
MIRT1348059	hsa-miR-4740-3p	CLIP-seq
MIRT1348060	hsa-miR-4778-5p	CLIP-seq
MIRT1348061	hsa-miR-4795-3p	CLIP-seq
MIRT1348062	hsa-miR-485-5p	CLIP-seq
MIRT1348063	hsa-miR-497	CLIP-seq
MIRT1348064	hsa-miR-498	CLIP-seq
MIRT1348065	hsa-miR-513c	CLIP-seq
MIRT1348066	hsa-miR-514b-5p	CLIP-seq
MIRT1348067	hsa-miR-520a-5p	CLIP-seq
MIRT1348068	hsa-miR-520d-5p	CLIP-seq
MIRT1348069	hsa-miR-524-5p	CLIP-seq
MIRT1348070	hsa-miR-525-5p	CLIP-seq
MIRT1348071	hsa-miR-548ae	CLIP-seq
MIRT1348072	hsa-miR-548aj	CLIP-seq
MIRT1348073	hsa-miR-548am	CLIP-seq
MIRT1348074	hsa-miR-548q	CLIP-seq
MIRT1348075	hsa-miR-548x	CLIP-seq
MIRT1348076	hsa-miR-563	CLIP-seq
MIRT1348077	hsa-miR-581	CLIP-seq
MIRT1348078	hsa-miR-593	CLIP-seq
MIRT1348079	hsa-miR-640	CLIP-seq
MIRT1348080	hsa-miR-647	CLIP-seq
MIRT1348081	hsa-miR-659	CLIP-seq
MIRT1348082	hsa-miR-671-5p	CLIP-seq
MIRT1348083	hsa-miR-675	CLIP-seq
MIRT1348084	hsa-miR-676	CLIP-seq
MIRT1348085	hsa-miR-765	CLIP-seq
MIRT1348086	hsa-miR-770-5p	CLIP-seq
MIRT1348087	hsa-miR-877	CLIP-seq
MIRT1348088	hsa-miR-891b	CLIP-seq
MIRT1348089	hsa-miR-892b	CLIP-seq
MIRT1348090	hsa-miR-9	CLIP-seq
MIRT1348091	hsa-miR-96	CLIP-seq
MIRT1553691	hsa-miR-1207-5p	CLIP-seq
MIRT1553692	hsa-miR-4763-3p	CLIP-seq
MIRT2103117	hsa-miR-106a	CLIP-seq
MIRT2103118	hsa-miR-106b	CLIP-seq
MIRT2103119	hsa-miR-122	CLIP-seq
MIRT2103120	hsa-miR-1234	CLIP-seq
MIRT2103121	hsa-miR-1285	CLIP-seq
MIRT2103122	hsa-miR-1305	CLIP-seq
MIRT2103123	hsa-miR-150	CLIP-seq
MIRT2103124	hsa-miR-17	CLIP-seq
MIRT1348007	hsa-miR-182	CLIP-seq
MIRT1348011	hsa-miR-193a-3p	CLIP-seq
MIRT1348012	hsa-miR-193b	CLIP-seq
MIRT2103125	hsa-miR-20a	CLIP-seq
MIRT2103126	hsa-miR-20b	CLIP-seq
MIRT1348014	hsa-miR-216b	CLIP-seq
MIRT1348016	hsa-miR-2278	CLIP-seq
MIRT2103127	hsa-miR-302a	CLIP-seq
MIRT2103128	hsa-miR-302b	CLIP-seq
MIRT2103129	hsa-miR-302c	CLIP-seq
MIRT2103130	hsa-miR-302d	CLIP-seq
MIRT2103131	hsa-miR-302e	CLIP-seq
MIRT2103132	hsa-miR-3167	CLIP-seq
MIRT1348022	hsa-miR-3175	CLIP-seq
MIRT2103133	hsa-miR-3187-5p	CLIP-seq
MIRT1348026	hsa-miR-3199	CLIP-seq
MIRT2103134	hsa-miR-3650	CLIP-seq
MIRT1348028	hsa-miR-3652	CLIP-seq
MIRT2103135	hsa-miR-372	CLIP-seq
MIRT2103136	hsa-miR-373	CLIP-seq
MIRT1348039	hsa-miR-4297	CLIP-seq
MIRT2103137	hsa-miR-4423-5p	CLIP-seq
MIRT1348042	hsa-miR-4430	CLIP-seq
MIRT2103138	hsa-miR-4436b-5p	CLIP-seq
MIRT1348048	hsa-miR-4505	CLIP-seq
MIRT2103139	hsa-miR-4534	CLIP-seq
MIRT1348053	hsa-miR-4695-3p	CLIP-seq
MIRT2103140	hsa-miR-4731-5p	CLIP-seq
MIRT2103141	hsa-miR-4738-3p	CLIP-seq
MIRT1348059	hsa-miR-4740-3p	CLIP-seq
MIRT1348064	hsa-miR-498	CLIP-seq
MIRT2103142	hsa-miR-512-3p	CLIP-seq
MIRT2103143	hsa-miR-519d	CLIP-seq
MIRT2103144	hsa-miR-520a-3p	CLIP-seq
MIRT2103145	hsa-miR-520b	CLIP-seq
MIRT2103146	hsa-miR-520c-3p	CLIP-seq
MIRT2103147	hsa-miR-520d-3p	CLIP-seq
MIRT2103148	hsa-miR-520e	CLIP-seq
MIRT2103149	hsa-miR-520g	CLIP-seq
MIRT2103150	hsa-miR-520h	CLIP-seq
MIRT2103151	hsa-miR-607	CLIP-seq
MIRT2103152	hsa-miR-612	CLIP-seq
MIRT1348079	hsa-miR-640	CLIP-seq
MIRT2103153	hsa-miR-876-5p	CLIP-seq
MIRT1348089	hsa-miR-892b	CLIP-seq
MIRT2103154	hsa-miR-93	CLIP-seq
MIRT1347997	hsa-miR-1193	CLIP-seq
MIRT1553691	hsa-miR-1207-5p	CLIP-seq
MIRT2103119	hsa-miR-122	CLIP-seq
MIRT2103120	hsa-miR-1234	CLIP-seq
MIRT2103123	hsa-miR-150	CLIP-seq
MIRT1348004	hsa-miR-15a	CLIP-seq
MIRT1348005	hsa-miR-15b	CLIP-seq
MIRT1348006	hsa-miR-16	CLIP-seq
MIRT1348007	hsa-miR-182	CLIP-seq
MIRT2327419	hsa-miR-1912	CLIP-seq
MIRT1348013	hsa-miR-195	CLIP-seq
MIRT1348014	hsa-miR-216b	CLIP-seq
MIRT2327420	hsa-miR-223	CLIP-seq
MIRT2327421	hsa-miR-2355-3p	CLIP-seq
MIRT2327422	hsa-miR-3124-3p	CLIP-seq
MIRT1348022	hsa-miR-3175	CLIP-seq
MIRT1348026	hsa-miR-3199	CLIP-seq
MIRT2327423	hsa-miR-331-3p	CLIP-seq
MIRT2103134	hsa-miR-3650	CLIP-seq
MIRT2327424	hsa-miR-3685	CLIP-seq
MIRT2327425	hsa-miR-384	CLIP-seq
MIRT2327426	hsa-miR-411	CLIP-seq
MIRT1348035	hsa-miR-424	CLIP-seq
MIRT2327427	hsa-miR-4328	CLIP-seq
MIRT2103137	hsa-miR-4423-5p	CLIP-seq
MIRT2103138	hsa-miR-4436b-5p	CLIP-seq
MIRT2103139	hsa-miR-4534	CLIP-seq
MIRT2327428	hsa-miR-4646-3p	CLIP-seq
MIRT1348052	hsa-miR-4694-3p	CLIP-seq
MIRT1348053	hsa-miR-4695-3p	CLIP-seq
MIRT1348059	hsa-miR-4740-3p	CLIP-seq
MIRT1553692	hsa-miR-4763-3p	CLIP-seq
MIRT1348063	hsa-miR-497	CLIP-seq
MIRT1348064	hsa-miR-498	CLIP-seq
MIRT2103149	hsa-miR-520g	CLIP-seq
MIRT2103150	hsa-miR-520h	CLIP-seq
MIRT1348079	hsa-miR-640	CLIP-seq
MIRT1348081	hsa-miR-659	CLIP-seq
MIRT1348084	hsa-miR-676	CLIP-seq
MIRT1348088	hsa-miR-891b	CLIP-seq
MIRT1348090	hsa-miR-9	CLIP-seq
MIRT1347997	hsa-miR-1193	CLIP-seq
MIRT2103119	hsa-miR-122	CLIP-seq
MIRT1348014	hsa-miR-216b	CLIP-seq
MIRT2103134	hsa-miR-3650	CLIP-seq
MIRT1348039	hsa-miR-4297	CLIP-seq
MIRT2103137	hsa-miR-4423-5p	CLIP-seq
MIRT2103139	hsa-miR-4534	CLIP-seq
MIRT1348053	hsa-miR-4695-3p	CLIP-seq
MIRT1348064	hsa-miR-498	CLIP-seq
MIRT1348079	hsa-miR-640	CLIP-seq
MIRT2459334	hsa-miR-1228	CLIP-seq
MIRT2459335	hsa-miR-1253	CLIP-seq
MIRT1348000	hsa-miR-1267	CLIP-seq
MIRT2459336	hsa-miR-129-5p	CLIP-seq
MIRT1348014	hsa-miR-216b	CLIP-seq
MIRT2459337	hsa-miR-3149	CLIP-seq
MIRT2459338	hsa-miR-3664-5p	CLIP-seq
MIRT2327426	hsa-miR-411	CLIP-seq
MIRT1348039	hsa-miR-4297	CLIP-seq
MIRT2103137	hsa-miR-4423-5p	CLIP-seq
MIRT2459339	hsa-miR-451b	CLIP-seq
MIRT2459340	hsa-miR-4639-3p	CLIP-seq
MIRT2459341	hsa-miR-4715-3p	CLIP-seq
MIRT2459342	hsa-miR-4735-5p	CLIP-seq
MIRT2459343	hsa-miR-4775	CLIP-seq
MIRT2459344	hsa-miR-4794	CLIP-seq
MIRT1348064	hsa-miR-498	CLIP-seq
MIRT2459345	hsa-miR-590-3p	CLIP-seq
MIRT2459334	hsa-miR-1228	CLIP-seq
MIRT2459335	hsa-miR-1253	CLIP-seq
MIRT1348000	hsa-miR-1267	CLIP-seq
MIRT2459336	hsa-miR-129-5p	CLIP-seq
MIRT2459337	hsa-miR-3149	CLIP-seq
MIRT2459338	hsa-miR-3664-5p	CLIP-seq
MIRT2327426	hsa-miR-411	CLIP-seq
MIRT2103137	hsa-miR-4423-5p	CLIP-seq
MIRT2459339	hsa-miR-451b	CLIP-seq
MIRT2459340	hsa-miR-4639-3p	CLIP-seq
MIRT2459341	hsa-miR-4715-3p	CLIP-seq
MIRT2459342	hsa-miR-4735-5p	CLIP-seq
MIRT2459343	hsa-miR-4775	CLIP-seq
MIRT2459344	hsa-miR-4794	CLIP-seq
MIRT2459345	hsa-miR-590-3p	CLIP-seq
MIRT2459334	hsa-miR-1228	CLIP-seq
MIRT2459336	hsa-miR-129-5p	CLIP-seq
MIRT1348014	hsa-miR-216b	CLIP-seq
MIRT2459337	hsa-miR-3149	CLIP-seq
MIRT2327426	hsa-miR-411	CLIP-seq
MIRT1348039	hsa-miR-4297	CLIP-seq
MIRT2459341	hsa-miR-4715-3p	CLIP-seq
MIRT2459342	hsa-miR-4735-5p	CLIP-seq
MIRT2459343	hsa-miR-4775	CLIP-seq
MIRT2459344	hsa-miR-4794	CLIP-seq
MIRT1348064	hsa-miR-498	CLIP-seq
MIRT2459345	hsa-miR-590-3p	CLIP-seq
MIRT2459334	hsa-miR-1228	CLIP-seq
MIRT2459336	hsa-miR-129-5p	CLIP-seq
MIRT1348014	hsa-miR-216b	CLIP-seq
MIRT2459337	hsa-miR-3149	CLIP-seq
MIRT2327426	hsa-miR-411	CLIP-seq
MIRT1348039	hsa-miR-4297	CLIP-seq
MIRT2459341	hsa-miR-4715-3p	CLIP-seq
MIRT2459342	hsa-miR-4735-5p	CLIP-seq
MIRT2459343	hsa-miR-4775	CLIP-seq
MIRT2459344	hsa-miR-4794	CLIP-seq
MIRT1348064	hsa-miR-498	CLIP-seq
MIRT2459345	hsa-miR-590-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000902	Process	Cell morphogenesis	IDA	16684770
GO:0001725	Component	Stress fiber	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	ISS
GO:0005884	Component	Actin filament	IDA	16249884, 16684770
GO:0005912	Component	Adherens junction	IBA	21873635
GO:0005925	Component	Focal adhesion	IDA
GO:0007015	Process	Actin filament organization	IBA	21873635
GO:0007015	Process	Actin filament organization	ISS
GO:0007420	Process	Brain development	IDA	16249884
GO:0009898	Component	Cytoplasmic side of plasma membrane	IDA	16249884
GO:0009925	Component	Basal plasma membrane	ISS
GO:0015629	Component	Actin cytoskeleton	ISS
GO:0016324	Component	Apical plasma membrane	IBA	21873635
GO:0016324	Component	Apical plasma membrane	ISS
GO:0030036	Process	Actin cytoskeleton organization	NAS	16684770
GO:0030864	Component	Cortical actin cytoskeleton	IBA	21873635
GO:0030864	Component	Cortical actin cytoskeleton	ISS
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0043296	Component	Apical junction complex	IBA	21873635
GO:0045159	Function	Myosin II binding	ISS
GO:0050890	Process	Cognition	IDA	16249884
GO:0051015	Function	Actin filament binding	IBA	21873635
GO:0051015	Function	Actin filament binding	ISS

Other IDs

• MIM: 300579
• HGNC: 29215
• e!Ensembl: ENSG00000158352

Protein

• UniProt ID: Q9ULL8
• Protein name: Protein Shroom4 (Second homolog of apical protein)
• Protein function: Probable regulator of cytoskeletal architecture that plays an important role in development. May regulate cellular and cytoskeletal architecture by modulating the spatial distribution of myosin II (By similarity). {ECO:0000250, ECO:0000269|PubMe
• PDB: 2EDP
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00595	PDZ	11 → 89	PDZ domain	Domain
  PF08687	ASD2	1212 → 1486	Apx/Shroom domain ASD2	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in all fetal and adult tissues investigated. Expressed in adult heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. In brain regions detected in cerebellum, cerebral cortex, medulla, spinal cord, occipi
• Sequence:

  MENRPGSFQYVPVQLQGGAPWGFTLKGGLEHCEPLTVSKIEDGGKAALSQKMRTGDELVN
  INGTPLYGSRQEALILIKGSFRILKLIVRRRNAPVSRPHSWHVAKLLEGCPEAATTMHFP
  SEAFSLSWHSGCNTSDVCVQWCPLSRHCSTEKSSSIGSMESLEQPGQATYESHLLPIDQN
  MYPNQRDSAYSSFSASSNASDCALSLRPEEPASTDCIMQGPGPTKAPSGRPNVAETSGGS
  RRTNGGHLTPSSQMSSRPQEGYQSGPAKAVRGPPQPPVRRDSLQASRAQLLNGEQRRASE
  PVVPLPQKEKLSLEPVLPARNPNRFCCLSGHDQVTSEGHQNCEFSQPPESSQQGSEHLLM
  QASTKAVGSPKACDRASSVDSNPLNEASAELAKASFGRPPHLIGPTGHRHSAPEQLLASH
  LQHVHLDTRGSKGMELPPVQDGHQWTLSPLHSSHKGKKSPCPPTGGTHDQSSKERKTRQV
  DDRSLVLGHQSQSSPPHGEADGHPSEKGFLDPNRTSRAASELANQQPSASGSLVQQATDC
  SSTTKAASGTEAGEEGDSEPKECSRMGGRRSGGTRGRSIQNRRKSERFATNLRNEIQRRK
  AQLQKSKGPLSQLCDTKEPVEETQEPPESPPLTASNTSLLSSCKKPPSPRDKLFNKSMML
  RARSSECLSQAPESHESRTGLEGRISPGQRPGQSSLGLNTWWKAPDPSSSDPEKAHAHCG
  VRGGHWRWSPEHNSQPLVAAAMEGPSNPGDNKELKASTAQAGEDAILLPFADRRKFFEES
  SKSLSTSHLPGLTTHSNKTFTQRPKPIDQNFQPMSSSCRELRRHPMDQSYHSADQPYHAT
  DQSYHSMSPLQSETPTYSECFASKGLENSMCCKPLHCGDFDYHRTCSYSCSVQGALVHDP
  CIYCSGEICPALLKRNMMPNCYNCRCHHHQCIRCSVCYHNPQHSALEDSSLAPGNTWKPR
  KLTVQEFPGDKWNPITGNRKTSQSGREMAHSKTSFSWATPFHPCLENPALDLSSYRAISS
  LDLLGDFKHALKKSEETSVYEEGSSLASMPHPLRSRAFSESHISLAPQSTRAWGQHRREL
  FSKGDETQSDLLGARKKAFPPPRPPPPNWEKYRLFRAAQQQKQQQQQQKQQEEEEEEEEE
  EEEEEEEEEEEAEEEEEELPPQYFSSETSGSCALNPEEVLEQPQPLSFGHLEGSRQGSQS
  VPAEQESFALHSSDFLPPIRGHLGSQPEQAQPPCYYGIGGLWRTSGQEATESAKQEFQHF
  SPPSGAPGIPTSYSAYYNISVAKAELLNKLKDQPEMAEIGLGEEEVDHELAQKKIQLIES
  ISRKLSVLREAQRGLLEDINANSALGEEVEANLKAVCKSNEFEKYHLFVGDLDKVVNLLL
  SLSGRLARVENALNSIDSEANQEKLVLIEKKQQLTGQLADAKELKEHVDRREKLVFGMVS
  RYLPQDQLQDYQHFVKMKSALIIEQRELEEKIKLGEEQLKCLRESLLLGPSNF

• Sequence length: 1493

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243	20852631
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
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Mental retardation	Severe intellectual disability, 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	20613765
Mental retardation, x-linked	X-linked intellectual disability, Stocco Dos Santos type	rs1603009115, rs199422240, rs199422234, rs782600511, rs199422235, rs199422236, rs199422237, rs199422238, rs199422239, rs2147483647, rs137852561, rs104894952, rs137852350, rs137852351, rs137852352, rs587776734, rs267606995, rs121918525, rs121918526, rs606231182, rs606231183, rs137852214, rs137852215, rs121918522, rs121918523, rs121918524, rs121918521, rs730882185, rs730882186, rs137853272, rs267607187, rs267607189, rs267607188, rs1602048836, rs1602048728, rs1328291159, rs28936077, rs121434615, rs121434616, rs786200913, rs1603370185, rs122468181, rs122468182, rs122461160, rs122461161, rs1373474125, rs137852815, rs387906499, rs122458138, rs1569423317, rs122458139, rs121434611, rs121434612, rs121434613, rs121434614, rs397515381, rs121434610, rs267607076, rs121434608, rs121434609, rs104894950, rs122454129, rs61748421, rs398122813, rs387906703, rs398122814, rs398122844, rs387906704, rs387906705, rs398122846, rs398122847, rs398122854, rs387906728, rs281860639, rs387906729, rs397515550, rs397515551, rs397518478, rs397518479, rs397515553, rs587777161, rs587777261, rs587777317, rs587777318, rs587777359, rs587777360, rs587777361, rs587780372, rs1555949612, rs267608329, rs61754457, rs587777605, rs267608465, rs786205133, rs606231282, rs587783357, rs587783360, rs587783361, rs587783362, rs587783364, rs587783366, rs587783368, rs587783370, rs587783371, rs137929307, rs727503977, rs727505397, rs786205208, rs794727270, rs139990565, rs794727881, rs796052231, rs796052232, rs796052234, rs796052235, rs796052236, rs796052230, rs796052226, rs797045024, rs797045025, rs869320681, rs797045026, rs797044862, rs797045140, rs879255583, rs879255584, rs797045920, rs797045433, rs749742837, rs797045431, rs782246658, rs797045646, rs863224854, rs863224879, rs864321627, rs864321628, rs864321631, rs869025343, rs869025344, rs869025345, rs869025588, rs869025589, rs869025590, rs869025591, rs869025592, rs752738546, rs875989829, rs869312692, rs1555988417, rs886039763, rs886039764, rs875989799, rs875989803, rs875989802, rs876661316, rs878853055, rs758719615, rs878854425, rs1569309474, rs1569309776, rs1569309459, rs1923775114, rs1569233549, rs1569230006, rs1569231897, rs886037836, rs1114167352, rs1929024034, rs886038208, rs886038209, rs886038210, rs886038211, rs886041767, rs886041481, rs886041705, rs886041876, rs886041701, rs886041595, rs886041433, rs886041774, rs886041971, rs1057518171, rs1057518019, rs1057518707, rs1057518697, rs1057518704, rs1057518729, rs1057518728, rs1057518730, rs1057518650, rs1057519431, rs1057519446, rs1057519430, rs1057519393, rs1057519396, rs1556909287, rs1556910184, rs1556912828, rs1556913180, rs1556913258, rs1556913268, rs782393002, rs1556955128, rs1556978515, rs1557006873, rs1557006903, rs1557024919, rs1557036757, rs1557036768, rs782099475, rs1057522024, rs1057520858, rs1057521657, rs1060499652, rs1060499661, rs1060499660, rs1060505032, rs1060505033, rs1064796023, rs1064794254, rs1064793796, rs1064796820, rs1064796827, rs1064795387, rs779508996, rs1064795512, rs1064793874, rs1085307760, rs1114167441, rs1131692155, rs1114167891, rs943295842, rs1131690786, rs1131691299, rs1131691887, rs1131691982, rs1131692040, rs1131692041, rs1131692042, rs1131692227, rs1135401788, rs1135401800, rs1135401762, rs1556014749, rs1556910261, rs1555972599, rs1556235551, rs1557314191, rs1555972628, rs1555980033, rs886128077, rs1556863435, rs1556016632, rs780775497, rs1555933969, rs1555953398, rs1555953819, rs1556016802, rs1556016731, rs1556016555, rs1555950011, rs1556518231, rs1555975458, rs1555986221, rs1556254569, rs904072058, rs1555953488, rs1064794574, rs1556861311, rs1555970404, rs1555981722, rs1556863398, rs1556865060, rs1556016292, rs1556016529, rs1556858912, rs1555932766, rs1556377028, rs1555930128, rs1556836399, rs1555974716, rs1556016224, rs1555981717, rs1556863340, rs1555954380, rs1556852362, rs1556220623, rs1555953548, rs1555954284, rs1556220029, rs1556206910, rs1555977199, rs1556863492, rs1555951993, rs1556880284, rs1555980523, rs1555924331, rs1555917927, rs1555954154, rs1556244406, rs1267519974, rs1555954105, rs1569335265, rs1569429756, rs374220843, rs1569302816, rs782660318, rs1569306724, rs1569309460, rs1569309816, rs1569309449, rs1569395541, rs1569288603, rs1569309484, rs1569057837, rs1569301036, rs1569290954, rs1569291699, rs1569300277, rs1569509136, rs1569394026, rs1569336024, rs1569203705, rs1569234653, rs1569291627, rs1602311804, rs1569238002, rs1569290395, rs1602220706, rs1569399945, rs1569389364, rs1569271378, rs1569271892, rs1569350993, rs1569277866, rs1569277899, rs1569295677, rs1569291261, rs1569380062, rs1603378331, rs1569261319, rs1569278313, rs1602284689, rs1602134459, rs1602424764, rs1602264294, rs1602291658, rs1602291861, rs1602383045, rs1602211123, rs1602279457, rs905353542, rs1602131859, rs1602131872, rs1602132216, rs1602183619, rs1602228596, rs1603305030, rs1602136369, rs1603377813, rs1602624914, rs1602134468, rs1602155923, rs1602183890, rs1602152230, rs1602387702, rs1602481623, rs1602506017, rs1602538353, rs1602624950, rs1603308066, rs1602577238, rs1602119305, rs1602126980, rs1602127262, rs1602220170, rs1602292205, rs1602424869, rs1602283534, rs1602293475, rs1602210960, rs1602147880, rs1601761445, rs1602122138, rs1602292076, rs1555988314, rs1602159841, rs1603371016, rs774419889, rs1602134248, rs1602135698, rs1602738933, rs1602385860, rs2031508845, rs1602550687, rs1602253509, rs1602231587, rs1602210346, rs1601957478, rs1602857000, rs1602511836, rs1019534975, rs1603379772, rs1924650670, rs1772040461, rs1602253464, rs2031389522, rs267608399, rs2074091750, rs2074369642, rs2074383129, rs2061745581, rs2073058023, rs1926795050, rs2080112579, rs2063908570, rs2063927503, rs2063923605, rs2063876114, rs2031456898
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Unknown
Disease term	Disease name	Evidence	References	Source
Neurodevelopmental Disorders	X-linked complex neurodevelopmental disorder, complex neurodevelopmental disorder			GenCC
Insomnia	Insomnia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Carcinoma Hepatocellular	Associate	37652516
Cognition Disorders	Associate	25167861
Dent Disease	Associate	30630535
Developmental Disabilities	Associate	26740508
Growth Disorders	Associate	30630535
Intellectual Disability	Associate	23871722, 30630535
Microcephaly	Associate	30630535
Orofaciodigital syndrome 11	Associate	30630535
Psychomotor Disorders	Associate	30630535
Rett Syndrome	Associate	26740508