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KIDINS220 (kinase D interacting substrate 220)

Gene

57498

Kinase D interacting substrate 220

KIDINS220

ARMS, SINO, VENARG

2p25.1

This gene encodes a transmembrane protein that is preferentially expressed in the nervous system where it controls neuronal cell survival, differentiation into exons and dendrites, and synaptic plasticity. The encoded protein interacts with membrane recep

Show/Hide all(8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs34141362	->G	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant, intron variant
rs1057519300	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, genic downstream transcript variant
rs1057519301	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant, intron variant
rs1057519302	->A	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, intron variant
rs1131692229	GT>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, intron variant
rs1553305080	G>A	Likely-pathogenic	Stop gained, intron variant, coding sequence variant, genic downstream transcript variant
rs1572403809	A>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, intron variant
rs1572428834	TGACC>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant

Show/Hide all(425)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004136	hsa-miR-192-5p	Microarray	16822819
MIRT028539	hsa-miR-30a-5p	Proteomics	18668040
MIRT031689	hsa-miR-16-5p	Proteomics	18668040
MIRT032342	hsa-let-7b-5p	Proteomics	18668040
MIRT042589	hsa-miR-423-3p	CLASH	23622248
MIRT1093032	hsa-miR-1238	CLIP-seq
MIRT1093033	hsa-miR-125a-5p	CLIP-seq
MIRT1093034	hsa-miR-125b	CLIP-seq
MIRT1093035	hsa-miR-1298	CLIP-seq
MIRT1093036	hsa-miR-141	CLIP-seq
MIRT1093037	hsa-miR-193a-3p	CLIP-seq
MIRT1093038	hsa-miR-193b	CLIP-seq
MIRT1093039	hsa-miR-194	CLIP-seq
MIRT1093040	hsa-miR-200a	CLIP-seq
MIRT1093041	hsa-miR-2053	CLIP-seq
MIRT1093042	hsa-miR-2355-5p	CLIP-seq
MIRT1093043	hsa-miR-302f	CLIP-seq
MIRT1093044	hsa-miR-3136-3p	CLIP-seq
MIRT1093045	hsa-miR-3146	CLIP-seq
MIRT1093046	hsa-miR-3170	CLIP-seq
MIRT1093047	hsa-miR-3622a-3p	CLIP-seq
MIRT1093048	hsa-miR-3622b-3p	CLIP-seq
MIRT1093049	hsa-miR-3667-3p	CLIP-seq
MIRT1093050	hsa-miR-3680	CLIP-seq
MIRT1093051	hsa-miR-4276	CLIP-seq
MIRT1093052	hsa-miR-4282	CLIP-seq
MIRT1093053	hsa-miR-4287	CLIP-seq
MIRT1093054	hsa-miR-4302	CLIP-seq
MIRT1093055	hsa-miR-4310	CLIP-seq
MIRT1093056	hsa-miR-4319	CLIP-seq
MIRT1093057	hsa-miR-4469	CLIP-seq
MIRT1093058	hsa-miR-4517	CLIP-seq
MIRT1093059	hsa-miR-4685-3p	CLIP-seq
MIRT1093060	hsa-miR-4720-3p	CLIP-seq
MIRT1093061	hsa-miR-4722-3p	CLIP-seq
MIRT1093062	hsa-miR-4732-3p	CLIP-seq
MIRT1093063	hsa-miR-4760-3p	CLIP-seq
MIRT1093064	hsa-miR-4765	CLIP-seq
MIRT1093065	hsa-miR-4775	CLIP-seq
MIRT1093066	hsa-miR-4777-5p	CLIP-seq
MIRT1093067	hsa-miR-4793-5p	CLIP-seq
MIRT1093068	hsa-miR-4795-3p	CLIP-seq
MIRT1093069	hsa-miR-4798-3p	CLIP-seq
MIRT1093070	hsa-miR-4804-3p	CLIP-seq
MIRT1093071	hsa-miR-513b	CLIP-seq
MIRT1093072	hsa-miR-548ac	CLIP-seq
MIRT1093073	hsa-miR-548ae	CLIP-seq
MIRT1093074	hsa-miR-548aj	CLIP-seq
MIRT1093075	hsa-miR-548am	CLIP-seq
MIRT1093076	hsa-miR-548d-3p	CLIP-seq
MIRT1093077	hsa-miR-548x	CLIP-seq
MIRT1093078	hsa-miR-548z	CLIP-seq
MIRT1093079	hsa-miR-556-3p	CLIP-seq
MIRT1093080	hsa-miR-568	CLIP-seq
MIRT1093081	hsa-miR-570	CLIP-seq
MIRT1093082	hsa-miR-577	CLIP-seq
MIRT1093083	hsa-miR-593	CLIP-seq
MIRT1093084	hsa-miR-606	CLIP-seq
MIRT1093085	hsa-miR-660	CLIP-seq
MIRT1093086	hsa-miR-664	CLIP-seq
MIRT1093087	hsa-miR-670	CLIP-seq
MIRT1093088	hsa-miR-889	CLIP-seq
MIRT2024909	hsa-miR-1225-3p	CLIP-seq
MIRT2024910	hsa-miR-1233	CLIP-seq
MIRT2024911	hsa-miR-1234	CLIP-seq
MIRT1093032	hsa-miR-1238	CLIP-seq
MIRT2024912	hsa-miR-1270	CLIP-seq
MIRT1093036	hsa-miR-141	CLIP-seq
MIRT2024913	hsa-miR-186	CLIP-seq
MIRT1093040	hsa-miR-200a	CLIP-seq
MIRT1093042	hsa-miR-2355-5p	CLIP-seq
MIRT2024914	hsa-miR-299-5p	CLIP-seq
MIRT2024915	hsa-miR-3133	CLIP-seq
MIRT2024916	hsa-miR-3137	CLIP-seq
MIRT2024917	hsa-miR-3145-3p	CLIP-seq
MIRT2024918	hsa-miR-3145-5p	CLIP-seq
MIRT2024919	hsa-miR-3158-5p	CLIP-seq
MIRT2024920	hsa-miR-3161	CLIP-seq
MIRT2024921	hsa-miR-3171	CLIP-seq
MIRT2024922	hsa-miR-339-5p	CLIP-seq
MIRT1093049	hsa-miR-3667-3p	CLIP-seq
MIRT2024923	hsa-miR-3689a-5p	CLIP-seq
MIRT2024924	hsa-miR-3689b	CLIP-seq
MIRT2024925	hsa-miR-3689e	CLIP-seq
MIRT2024926	hsa-miR-3689f	CLIP-seq
MIRT2024927	hsa-miR-380	CLIP-seq
MIRT2024928	hsa-miR-3942-5p	CLIP-seq
MIRT2024929	hsa-miR-3978	CLIP-seq
MIRT1093051	hsa-miR-4276	CLIP-seq
MIRT1093053	hsa-miR-4287	CLIP-seq
MIRT1093054	hsa-miR-4302	CLIP-seq
MIRT2024930	hsa-miR-4418	CLIP-seq
MIRT2024931	hsa-miR-4420	CLIP-seq
MIRT2024932	hsa-miR-4438	CLIP-seq
MIRT1093057	hsa-miR-4469	CLIP-seq
MIRT2024933	hsa-miR-4531	CLIP-seq
MIRT2024934	hsa-miR-4677-3p	CLIP-seq
MIRT2024935	hsa-miR-4679	CLIP-seq
MIRT1093059	hsa-miR-4685-3p	CLIP-seq
MIRT2024936	hsa-miR-4703-5p	CLIP-seq
MIRT1093061	hsa-miR-4722-3p	CLIP-seq
MIRT2024937	hsa-miR-4729	CLIP-seq
MIRT2024938	hsa-miR-4753-3p	CLIP-seq
MIRT1093064	hsa-miR-4765	CLIP-seq
MIRT2024939	hsa-miR-4792	CLIP-seq
MIRT2024940	hsa-miR-508-5p	CLIP-seq
MIRT2024941	hsa-miR-509-3-5p	CLIP-seq
MIRT2024942	hsa-miR-509-5p	CLIP-seq
MIRT2024943	hsa-miR-510	CLIP-seq
MIRT2024944	hsa-miR-512-5p	CLIP-seq
MIRT2024945	hsa-miR-513a-5p	CLIP-seq
MIRT2024946	hsa-miR-548k	CLIP-seq
MIRT1093080	hsa-miR-568	CLIP-seq
MIRT1093083	hsa-miR-593	CLIP-seq
MIRT1093084	hsa-miR-606	CLIP-seq
MIRT2024947	hsa-miR-616	CLIP-seq
MIRT2024948	hsa-miR-620	CLIP-seq
MIRT2024949	hsa-miR-668	CLIP-seq
MIRT2024950	hsa-miR-944	CLIP-seq
MIRT2256032	hsa-miR-101	CLIP-seq
MIRT2256033	hsa-miR-1193	CLIP-seq
MIRT2256034	hsa-miR-1202	CLIP-seq
MIRT2256035	hsa-miR-1207-3p	CLIP-seq
MIRT2256036	hsa-miR-1226	CLIP-seq
MIRT2256037	hsa-miR-1229	CLIP-seq
MIRT2024911	hsa-miR-1234	CLIP-seq
MIRT2256038	hsa-miR-1268	CLIP-seq
MIRT2256039	hsa-miR-1268b	CLIP-seq
MIRT2024912	hsa-miR-1270	CLIP-seq
MIRT2256040	hsa-miR-1272	CLIP-seq
MIRT2256041	hsa-miR-1287	CLIP-seq
MIRT2256042	hsa-miR-1289	CLIP-seq
MIRT2256043	hsa-miR-134	CLIP-seq
MIRT2256044	hsa-miR-142-5p	CLIP-seq
MIRT2256045	hsa-miR-144	CLIP-seq
MIRT2256046	hsa-miR-182	CLIP-seq
MIRT2024913	hsa-miR-186	CLIP-seq
MIRT1093037	hsa-miR-193a-3p	CLIP-seq
MIRT1093038	hsa-miR-193b	CLIP-seq
MIRT2256047	hsa-miR-199a-3p	CLIP-seq
MIRT2256048	hsa-miR-199b-3p	CLIP-seq
MIRT2024914	hsa-miR-299-5p	CLIP-seq
MIRT2256049	hsa-miR-3115	CLIP-seq
MIRT2256050	hsa-miR-3118	CLIP-seq
MIRT2256051	hsa-miR-3129-5p	CLIP-seq
MIRT2024915	hsa-miR-3133	CLIP-seq
MIRT2256052	hsa-miR-3135b	CLIP-seq
MIRT1093044	hsa-miR-3136-3p	CLIP-seq
MIRT2024917	hsa-miR-3145-3p	CLIP-seq
MIRT2024918	hsa-miR-3145-5p	CLIP-seq
MIRT2024919	hsa-miR-3158-5p	CLIP-seq
MIRT2024920	hsa-miR-3161	CLIP-seq
MIRT2256053	hsa-miR-3164	CLIP-seq
MIRT1093046	hsa-miR-3170	CLIP-seq
MIRT2256054	hsa-miR-3194-5p	CLIP-seq
MIRT2256055	hsa-miR-3198	CLIP-seq
MIRT2256056	hsa-miR-340	CLIP-seq
MIRT2256057	hsa-miR-3662	CLIP-seq
MIRT2256058	hsa-miR-3668	CLIP-seq
MIRT2256059	hsa-miR-3675-5p	CLIP-seq
MIRT1093050	hsa-miR-3680	CLIP-seq
MIRT2256060	hsa-miR-3685	CLIP-seq
MIRT2256061	hsa-miR-3688-3p	CLIP-seq
MIRT2024923	hsa-miR-3689a-5p	CLIP-seq
MIRT2024924	hsa-miR-3689b	CLIP-seq
MIRT2024925	hsa-miR-3689e	CLIP-seq
MIRT2024926	hsa-miR-3689f	CLIP-seq
MIRT2256062	hsa-miR-3691-5p	CLIP-seq
MIRT2256063	hsa-miR-3907	CLIP-seq
MIRT2256064	hsa-miR-3924	CLIP-seq
MIRT2256065	hsa-miR-3972	CLIP-seq
MIRT2024929	hsa-miR-3978	CLIP-seq
MIRT1093053	hsa-miR-4287	CLIP-seq
MIRT2256066	hsa-miR-4290	CLIP-seq
MIRT2256067	hsa-miR-4294	CLIP-seq
MIRT2256068	hsa-miR-4299	CLIP-seq
MIRT2256069	hsa-miR-4309	CLIP-seq
MIRT2024930	hsa-miR-4418	CLIP-seq
MIRT2256070	hsa-miR-4436a	CLIP-seq
MIRT2256071	hsa-miR-4501	CLIP-seq
MIRT2256072	hsa-miR-4528	CLIP-seq
MIRT2024933	hsa-miR-4531	CLIP-seq
MIRT2256073	hsa-miR-4534	CLIP-seq
MIRT2256074	hsa-miR-4668-3p	CLIP-seq
MIRT2024934	hsa-miR-4677-3p	CLIP-seq
MIRT2024935	hsa-miR-4679	CLIP-seq
MIRT1093059	hsa-miR-4685-3p	CLIP-seq
MIRT2256075	hsa-miR-4687-5p	CLIP-seq
MIRT2256076	hsa-miR-4695-3p	CLIP-seq
MIRT2256077	hsa-miR-4698	CLIP-seq
MIRT2256078	hsa-miR-4704-3p	CLIP-seq
MIRT2256079	hsa-miR-4719	CLIP-seq
MIRT2256080	hsa-miR-4733-3p	CLIP-seq
MIRT2024938	hsa-miR-4753-3p	CLIP-seq
MIRT1093063	hsa-miR-4760-3p	CLIP-seq
MIRT1093065	hsa-miR-4775	CLIP-seq
MIRT2256081	hsa-miR-4777-3p	CLIP-seq
MIRT2256082	hsa-miR-4787-3p	CLIP-seq
MIRT1093068	hsa-miR-4795-3p	CLIP-seq
MIRT2256083	hsa-miR-488	CLIP-seq
MIRT2024940	hsa-miR-508-5p	CLIP-seq
MIRT2024941	hsa-miR-509-3-5p	CLIP-seq
MIRT2024942	hsa-miR-509-5p	CLIP-seq
MIRT2024943	hsa-miR-510	CLIP-seq
MIRT2024944	hsa-miR-512-5p	CLIP-seq
MIRT1093071	hsa-miR-513b	CLIP-seq
MIRT2024946	hsa-miR-548k	CLIP-seq
MIRT2256084	hsa-miR-548m	CLIP-seq
MIRT2256085	hsa-miR-554	CLIP-seq
MIRT1093079	hsa-miR-556-3p	CLIP-seq
MIRT2256086	hsa-miR-561	CLIP-seq
MIRT2256087	hsa-miR-582-5p	CLIP-seq
MIRT2256088	hsa-miR-585	CLIP-seq
MIRT2256089	hsa-miR-591	CLIP-seq
MIRT1093083	hsa-miR-593	CLIP-seq
MIRT1093084	hsa-miR-606	CLIP-seq
MIRT2024948	hsa-miR-620	CLIP-seq
MIRT2256090	hsa-miR-635	CLIP-seq
MIRT1093086	hsa-miR-664	CLIP-seq
MIRT2256091	hsa-miR-665	CLIP-seq
MIRT2256092	hsa-miR-942	CLIP-seq
MIRT2389841	hsa-miR-1273e	CLIP-seq
MIRT1093036	hsa-miR-141	CLIP-seq
MIRT1093040	hsa-miR-200a	CLIP-seq
MIRT2389842	hsa-miR-3121-5p	CLIP-seq
MIRT2389843	hsa-miR-4279	CLIP-seq
MIRT2389844	hsa-miR-450b-5p	CLIP-seq
MIRT2389845	hsa-miR-518a-5p	CLIP-seq
MIRT2389846	hsa-miR-527	CLIP-seq
MIRT2256092	hsa-miR-942	CLIP-seq
MIRT2256036	hsa-miR-1226	CLIP-seq
MIRT2256066	hsa-miR-4290	CLIP-seq
MIRT2256075	hsa-miR-4687-5p	CLIP-seq
MIRT2256080	hsa-miR-4733-3p	CLIP-seq
MIRT2256036	hsa-miR-1226	CLIP-seq
MIRT2256066	hsa-miR-4290	CLIP-seq
MIRT2256075	hsa-miR-4687-5p	CLIP-seq
MIRT2256080	hsa-miR-4733-3p	CLIP-seq
MIRT2256032	hsa-miR-101	CLIP-seq
MIRT2256033	hsa-miR-1193	CLIP-seq
MIRT2256037	hsa-miR-1229	CLIP-seq
MIRT2024911	hsa-miR-1234	CLIP-seq
MIRT2557856	hsa-miR-1245b-3p	CLIP-seq
MIRT2256038	hsa-miR-1268	CLIP-seq
MIRT2256039	hsa-miR-1268b	CLIP-seq
MIRT2256040	hsa-miR-1272	CLIP-seq
MIRT2256042	hsa-miR-1289	CLIP-seq
MIRT2557857	hsa-miR-129-3p	CLIP-seq
MIRT1093035	hsa-miR-1298	CLIP-seq
MIRT2256043	hsa-miR-134	CLIP-seq
MIRT1093036	hsa-miR-141	CLIP-seq
MIRT2256044	hsa-miR-142-5p	CLIP-seq
MIRT2256045	hsa-miR-144	CLIP-seq
MIRT2557858	hsa-miR-192	CLIP-seq
MIRT1093039	hsa-miR-194	CLIP-seq
MIRT2256047	hsa-miR-199a-3p	CLIP-seq
MIRT2256048	hsa-miR-199b-3p	CLIP-seq
MIRT1093040	hsa-miR-200a	CLIP-seq
MIRT2557859	hsa-miR-215	CLIP-seq
MIRT2256049	hsa-miR-3115	CLIP-seq
MIRT2256050	hsa-miR-3118	CLIP-seq
MIRT2256051	hsa-miR-3129-5p	CLIP-seq
MIRT1093044	hsa-miR-3136-3p	CLIP-seq
MIRT2024919	hsa-miR-3158-5p	CLIP-seq
MIRT2256053	hsa-miR-3164	CLIP-seq
MIRT1093046	hsa-miR-3170	CLIP-seq
MIRT2557860	hsa-miR-3174	CLIP-seq
MIRT2256055	hsa-miR-3198	CLIP-seq
MIRT2557861	hsa-miR-338-5p	CLIP-seq
MIRT2557862	hsa-miR-3606	CLIP-seq
MIRT2557863	hsa-miR-3613-3p	CLIP-seq
MIRT2557864	hsa-miR-3646	CLIP-seq
MIRT2256058	hsa-miR-3668	CLIP-seq
MIRT2256059	hsa-miR-3675-5p	CLIP-seq
MIRT2557865	hsa-miR-3682-5p	CLIP-seq
MIRT2256062	hsa-miR-3691-5p	CLIP-seq
MIRT2557866	hsa-miR-371-5p	CLIP-seq
MIRT2557867	hsa-miR-371b-5p	CLIP-seq
MIRT2557868	hsa-miR-3908	CLIP-seq
MIRT2557869	hsa-miR-3914	CLIP-seq
MIRT2557870	hsa-miR-3935	CLIP-seq
MIRT2557871	hsa-miR-3976	CLIP-seq
MIRT2557872	hsa-miR-4256	CLIP-seq
MIRT2256067	hsa-miR-4294	CLIP-seq
MIRT2256069	hsa-miR-4309	CLIP-seq
MIRT1093055	hsa-miR-4310	CLIP-seq
MIRT2557873	hsa-miR-4317	CLIP-seq
MIRT2557874	hsa-miR-4330	CLIP-seq
MIRT2024930	hsa-miR-4418	CLIP-seq
MIRT2256070	hsa-miR-4436a	CLIP-seq
MIRT2256073	hsa-miR-4534	CLIP-seq
MIRT2256074	hsa-miR-4668-3p	CLIP-seq
MIRT2256076	hsa-miR-4695-3p	CLIP-seq
MIRT2256077	hsa-miR-4698	CLIP-seq
MIRT2557875	hsa-miR-4728-3p	CLIP-seq
MIRT2024937	hsa-miR-4729	CLIP-seq
MIRT2024938	hsa-miR-4753-3p	CLIP-seq
MIRT1093063	hsa-miR-4760-3p	CLIP-seq
MIRT1093064	hsa-miR-4765	CLIP-seq
MIRT2256081	hsa-miR-4777-3p	CLIP-seq
MIRT1093066	hsa-miR-4777-5p	CLIP-seq
MIRT2557876	hsa-miR-4778-5p	CLIP-seq
MIRT2256082	hsa-miR-4787-3p	CLIP-seq
MIRT2256083	hsa-miR-488	CLIP-seq
MIRT2557877	hsa-miR-502-5p	CLIP-seq
MIRT2024941	hsa-miR-509-3-5p	CLIP-seq
MIRT2024942	hsa-miR-509-5p	CLIP-seq
MIRT2024943	hsa-miR-510	CLIP-seq
MIRT2024944	hsa-miR-512-5p	CLIP-seq
MIRT2557878	hsa-miR-545	CLIP-seq
MIRT1093072	hsa-miR-548ac	CLIP-seq
MIRT2557879	hsa-miR-548ad	CLIP-seq
MIRT1093073	hsa-miR-548ae	CLIP-seq
MIRT1093074	hsa-miR-548aj	CLIP-seq
MIRT1093075	hsa-miR-548am	CLIP-seq
MIRT1093076	hsa-miR-548d-3p	CLIP-seq
MIRT2256084	hsa-miR-548m	CLIP-seq
MIRT2557880	hsa-miR-548p	CLIP-seq
MIRT1093077	hsa-miR-548x	CLIP-seq
MIRT1093078	hsa-miR-548z	CLIP-seq
MIRT2256085	hsa-miR-554	CLIP-seq
MIRT2557881	hsa-miR-556-5p	CLIP-seq
MIRT2256086	hsa-miR-561	CLIP-seq
MIRT1093082	hsa-miR-577	CLIP-seq
MIRT2256088	hsa-miR-585	CLIP-seq
MIRT1093083	hsa-miR-593	CLIP-seq
MIRT2557882	hsa-miR-610	CLIP-seq
MIRT2024947	hsa-miR-616	CLIP-seq
MIRT2557883	hsa-miR-628-5p	CLIP-seq
MIRT1093086	hsa-miR-664	CLIP-seq
MIRT2256091	hsa-miR-665	CLIP-seq
MIRT2557884	hsa-miR-921	CLIP-seq
MIRT2256032	hsa-miR-101	CLIP-seq
MIRT2256033	hsa-miR-1193	CLIP-seq
MIRT2256036	hsa-miR-1226	CLIP-seq
MIRT2256037	hsa-miR-1229	CLIP-seq
MIRT2024911	hsa-miR-1234	CLIP-seq
MIRT2557856	hsa-miR-1245b-3p	CLIP-seq
MIRT2256038	hsa-miR-1268	CLIP-seq
MIRT2256039	hsa-miR-1268b	CLIP-seq
MIRT2256040	hsa-miR-1272	CLIP-seq
MIRT2256042	hsa-miR-1289	CLIP-seq
MIRT2557857	hsa-miR-129-3p	CLIP-seq
MIRT1093035	hsa-miR-1298	CLIP-seq
MIRT2256043	hsa-miR-134	CLIP-seq
MIRT1093036	hsa-miR-141	CLIP-seq
MIRT2256044	hsa-miR-142-5p	CLIP-seq
MIRT2256045	hsa-miR-144	CLIP-seq
MIRT2557858	hsa-miR-192	CLIP-seq
MIRT1093039	hsa-miR-194	CLIP-seq
MIRT2256047	hsa-miR-199a-3p	CLIP-seq
MIRT2256048	hsa-miR-199b-3p	CLIP-seq
MIRT1093040	hsa-miR-200a	CLIP-seq
MIRT2557859	hsa-miR-215	CLIP-seq
MIRT2256049	hsa-miR-3115	CLIP-seq
MIRT2256050	hsa-miR-3118	CLIP-seq
MIRT2256051	hsa-miR-3129-5p	CLIP-seq
MIRT1093044	hsa-miR-3136-3p	CLIP-seq
MIRT2024919	hsa-miR-3158-5p	CLIP-seq
MIRT2256053	hsa-miR-3164	CLIP-seq
MIRT1093046	hsa-miR-3170	CLIP-seq
MIRT2557860	hsa-miR-3174	CLIP-seq
MIRT2256055	hsa-miR-3198	CLIP-seq
MIRT2557861	hsa-miR-338-5p	CLIP-seq
MIRT2557862	hsa-miR-3606	CLIP-seq
MIRT2557863	hsa-miR-3613-3p	CLIP-seq
MIRT2557864	hsa-miR-3646	CLIP-seq
MIRT2256058	hsa-miR-3668	CLIP-seq
MIRT2256059	hsa-miR-3675-5p	CLIP-seq
MIRT2557865	hsa-miR-3682-5p	CLIP-seq
MIRT2256062	hsa-miR-3691-5p	CLIP-seq
MIRT2557866	hsa-miR-371-5p	CLIP-seq
MIRT2557867	hsa-miR-371b-5p	CLIP-seq
MIRT2557868	hsa-miR-3908	CLIP-seq
MIRT2557869	hsa-miR-3914	CLIP-seq
MIRT2557870	hsa-miR-3935	CLIP-seq
MIRT2557871	hsa-miR-3976	CLIP-seq
MIRT2557872	hsa-miR-4256	CLIP-seq
MIRT2256066	hsa-miR-4290	CLIP-seq
MIRT2256067	hsa-miR-4294	CLIP-seq
MIRT2256069	hsa-miR-4309	CLIP-seq
MIRT1093055	hsa-miR-4310	CLIP-seq
MIRT2557873	hsa-miR-4317	CLIP-seq
MIRT2557874	hsa-miR-4330	CLIP-seq
MIRT2024930	hsa-miR-4418	CLIP-seq
MIRT2256070	hsa-miR-4436a	CLIP-seq
MIRT2256073	hsa-miR-4534	CLIP-seq
MIRT2256074	hsa-miR-4668-3p	CLIP-seq
MIRT2256075	hsa-miR-4687-5p	CLIP-seq
MIRT2256076	hsa-miR-4695-3p	CLIP-seq
MIRT2256077	hsa-miR-4698	CLIP-seq
MIRT2557875	hsa-miR-4728-3p	CLIP-seq
MIRT2256080	hsa-miR-4733-3p	CLIP-seq
MIRT2024938	hsa-miR-4753-3p	CLIP-seq
MIRT1093063	hsa-miR-4760-3p	CLIP-seq
MIRT1093064	hsa-miR-4765	CLIP-seq
MIRT2256081	hsa-miR-4777-3p	CLIP-seq
MIRT1093066	hsa-miR-4777-5p	CLIP-seq
MIRT2256082	hsa-miR-4787-3p	CLIP-seq
MIRT2256083	hsa-miR-488	CLIP-seq
MIRT2024941	hsa-miR-509-3-5p	CLIP-seq
MIRT2024942	hsa-miR-509-5p	CLIP-seq
MIRT2024943	hsa-miR-510	CLIP-seq
MIRT2024944	hsa-miR-512-5p	CLIP-seq
MIRT2557878	hsa-miR-545	CLIP-seq
MIRT1093072	hsa-miR-548ac	CLIP-seq
MIRT2557879	hsa-miR-548ad	CLIP-seq
MIRT1093073	hsa-miR-548ae	CLIP-seq
MIRT1093074	hsa-miR-548aj	CLIP-seq
MIRT1093075	hsa-miR-548am	CLIP-seq
MIRT1093076	hsa-miR-548d-3p	CLIP-seq
MIRT2256084	hsa-miR-548m	CLIP-seq
MIRT2557880	hsa-miR-548p	CLIP-seq
MIRT1093077	hsa-miR-548x	CLIP-seq
MIRT1093078	hsa-miR-548z	CLIP-seq
MIRT2557881	hsa-miR-556-5p	CLIP-seq
MIRT2256086	hsa-miR-561	CLIP-seq
MIRT1093082	hsa-miR-577	CLIP-seq
MIRT2256088	hsa-miR-585	CLIP-seq
MIRT1093083	hsa-miR-593	CLIP-seq
MIRT2557882	hsa-miR-610	CLIP-seq
MIRT2557883	hsa-miR-628-5p	CLIP-seq
MIRT1093086	hsa-miR-664	CLIP-seq
MIRT2256091	hsa-miR-665	CLIP-seq
MIRT2557884	hsa-miR-921	CLIP-seq

Show/Hide all(15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000186	Process	Activation of MAPKK activity	TAS
GO:0001701	Process	In utero embryonic development	IEA
GO:0005770	Component	Late endosome	ISS
GO:0005829	Component	Cytosol	TAS
GO:0010976	Process	Positive regulation of neuron projection development	ISS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016021	Component	Integral component of membrane	IEA
GO:0019887	Function	Protein kinase regulator activity	IBA	21873635
GO:0030165	Function	PDZ domain binding	IBA	21873635
GO:0030165	Function	PDZ domain binding	ISS
GO:0032991	Component	Protein-containing complex	ISS
GO:0038180	Process	Nerve growth factor signaling pathway	IBA	21873635
GO:0038180	Process	Nerve growth factor signaling pathway	ISS
GO:0048813	Process	Dendrite morphogenesis	IEA
GO:1990090	Process	Cellular response to nerve growth factor stimulus	ISS

MIM	HGNC	e!Ensembl
615759	29508	ENSG00000134313

Protein

UniProt ID

Q9ULH0

Protein name

Kinase D-interacting substrate of 220 kDa (Ankyrin repeat-rich membrane-spanning protein)

Protein function

Promotes a prolonged MAP-kinase signaling by neurotrophins through activation of a Rap1-dependent mechanism. Provides a docking site for the CRKL-C3G complex, resulting in Rap1-dependent sustained ERK activation. May play an important role in re

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12796	Ank_2	6 → 68	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	67 → 134	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	136 → 200	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	193 → 266	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	263 → 334	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	306 → 396	Ankyrin repeats (3 copies)	Repeat
PF07693	KAP_NTPase	440 → 953	KAP family P-loop domain	Domain

Sequence

MSVLISQSVINYVEEENIPALKALLEKCKDVDERNECGQTPLMIAAEQGNLEIVKELIKN
GANCNLEDLDNWTALISASKEGHVHIVEELLKCGVNLEHRDMGGWTALMWACYKGRTDVV
ELLLSHGANPSVTGLYSVYPIIWAAGRGHADIVHLLLQNGAKVNCSDKYGTTPLVWAARK
GHLECVKHLLAMGADVDQEGANSMTALIVAVKGGYTQSVKEILKRNPNVNLTDKDGNTAL
MIASKEGHTEIVQDLLDAGTYVNIPDRSGDTVLIGAVRGGHVEIVRALLQKYADIDIRGQ
DNKTALYWAVEKGNATMVRDILQCNPDTEICTKDGETPLIKATKMRNIEVVELLLDKGAK
VSAVDKKGDTPLHIAIRGRSRKLAELLLRNPKDGRLLYRPNKAGETPYNIDCSHQKSILT
QIFGARHLSPTETDGDMLGYDLYSSALADILSEPTMQPPICVGLYAQWGSGKSFLLKKLE
DEMKTFAGQQIEPLFQFSWLIVFLTLLLCGGLGLLFAFTVHPNLGIAVSLSFLALLYIFF
IVIYFGGRREGESWNWAWVLSTRLARHIGYLELLLKLMFVNPPELPEQTTKALPVRFLFT
DYNRLSSVGGETSLAEMIATLSDACEREFGFLATRLFRVFKTEDTQGKKKWKKTCCLPSF
VIFLFIIGCIISGITLLAIFRVDPKHLTVNAVLISIASVVGLAFVLNCRTWWQVLDSLLN
SQRKRLHNAASKLHKLKSEGFMKVLKCEVELMARMAKTIDSFTQNQTRLVVIIDGLDACE
QDKVLQMLDTVRVLFSKGPFIAIFASDPHIIIKAINQNLNSVLRDSNINGHDYMRNIVHL
PVFLNSRGLSNARKFLVTSATNGDVPCSDTTGIQEDADRRVSQNSLGEMTKLGSKTALNR
RDTYRRRQMQRTITRQMSFDLTKLLVTEDWFSDISPQTMRRLLNIVSVTGRLLRANQISF
NWDRLASWINLTEQWPYRTSWLILYLEETEGIPDQMTLKTIYERISKNIPTTKDVEPLLE
IDGDIRNFEVFLSSRTPVLVARDVKVFLPCTVNLDPKLREIIADVRAAREQISIGGLAYP
PLPLHEGPPRAPSGYSQPPSVCSSTSFNGPFAGGVVSPQPHSSYYSGMTGPQHPFYNRPF
FAPYLYTPRYYPGGSQHLISRPSVKTSLPRDQNNGLEVIKEDAAEGLSSPTDSSRGSGPA
PGPVVLLNSLNVDAVCEKLKQIEGLDQSMLPQYCTTIKKANINGRVLAQCNIDELKKEMN
MNFGDWHLFRSTVLEMRNAESHVVPEDPRFLSESSSGPAPHGEPARRASHNELPHTELSS
QTPYTLNFSFEELNTLGLDEGAPRHSNLSWQSQTRRTPSLSSLNSQDSSIEISKLTDKVQ
AEYRDAYREYIAQMSQLEGGPGSTTISGRSSPHSTYYMGQSSSGGSIHSNLEQEKGKDSE
PKPDDGRKSFLMKRGDVIDYSSSGVSTNDASPLDPITEEDEKSDQSGSKLLPGKKSSERS
SLFQTDLKLKGSGLRYQKLPSDEDESGTEESDNTPLLKDDKDRKAEGKVERVPKSPEHSA
EPIRTFIKAKEYLSDALLDKKDSSDSGVRSSESSPNHSLHNEVADDSQLEKANLIELEDD
SHSGKRGIPHSLSGLQDPIIARMSICSEDKKSPSECSLIASSPEENWPACQKAYNLNRTP
STVTLNNNSAPANRANQNFDEMEGIRETSQVILRPSSSPNPTTIQNENLKSMTHKRSQRS
SYTRLSKDPPELHAAASSESTGFGEERESIL

Sequence length

1771

Interactions

View interactions

	KEGG		Reactome
	Neurotrophin signaling pathway		ARMS-mediated activation

Associated diseases

Show/Hide Causal Diseases (6)

Causal
Disease name	Disease term	dbSNP ID	References
Developmental delay	Global developmental delay, Gross motor development 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	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Obesity	Obesity	rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840
Spastic paraplegia	Spastic Paraplegia	rs118204049, rs121918262, rs104894490, rs119476046, rs281865117, rs281865118, rs137853017, rs72554620, rs121908610, rs121908611, rs121908613, rs116171274, rs121434442, rs121434443, rs137852520, rs137852521, rs137852524, rs137852525, rs879253716, rs387906970, rs587776888, rs759947457, rs587776891, rs753426920, rs387907057, rs397514478, rs387907285, rs387907287, rs387907288, rs281865120, rs397514513, rs141431913, rs312262755, rs398123013, rs398123014, rs398122382, rs745744124, rs483352924, rs483352925, rs587777222, rs587779388, rs587783179, rs587783772, rs587784383, rs587784384, rs730882249, rs762947018, rs786204628, rs141315518, rs786204416, rs786204750, rs770866403, rs775059063, rs797044787, rs794729214, rs794729215, rs797045050, rs370828455, rs146262009, rs797045244, rs780247476, rs185246578, rs766773277, rs863224494, rs752669339, rs869320690, rs200737038, rs869312914, rs752283089, rs751713917, rs756205995, rs875989787, rs875989845, rs375817528, rs200440467, rs876661295, rs794727501, rs770285398, rs878854745, rs878854975, rs878855013, rs878855011, rs878855083, rs878853979, rs879255397, rs879255396, rs886039410, rs886039409, rs886039407, rs886039408, rs886039405, rs886039406, rs752598529, rs752059006, rs202199411, rs886041949, rs886041127, rs886042238, rs1057517123, rs747868017, rs1057517294, rs565203731, rs753205260, rs1057517002, rs779338945, rs755186798, rs1057517250, rs1057517060, rs753012964, rs758572409, rs1057516959, rs1057516438, rs145766983, rs1057516689, rs1057516932, rs1057516635, rs1057517366, rs759166250, rs1057517138, rs761089024, rs1057517297, rs1057517311, rs1057516779, rs1057517039, rs1057517285, rs1057516365, rs1057516625, rs1057516987, rs1057516837, rs1057518016, rs1057518880, rs1057518697, rs1057519289, rs1057519290, rs1057519291, rs1057519292, rs1057519293, rs1057521784, rs1060499756, rs1060499771, rs1060502224, rs1060502523, rs371019314, rs1060503431, rs774906736, rs372350326, rs776976178, rs370837940, rs1064793162, rs1064793920, rs1555177629, rs1555394376, rs377445018, rs767024102, rs768176054, rs1557090943, rs1557090161, rs1555178616, rs1555251539, rs754439135, rs1321353475, rs1555186937, rs767871841, rs867249938, rs1440541889, rs1555456727, rs1268722908, rs1557092247, rs1557092248, rs765632065, rs773246271, rs1554380391, rs1554517327, rs200268523, rs1156566314, rs1160357920, rs773182375, rs768366199, rs774809466, rs1555542889, rs915291720, rs1021034246, rs769676029, rs746979262, rs1033093801, rs955142329, rs760559263, rs1557091773, rs1372213267, rs1557091678, rs1402429085, rs1555179091, rs1555179087, rs374128662, rs142209254, rs1553259463, rs1555254256, rs755820725, rs1335804396, rs568176223, rs1555979596, rs780030221, rs1553314978, rs923921184, rs1556840029, rs374894037, rs1553262438, rs1555249362, rs950356390, rs1557091278, rs1557090220, rs1259615333, rs1555249276, rs1555249425, rs1555249479, rs1555249555, rs1555250949, rs1555252349, rs1167474602, rs1175545518, rs1555249648, rs1555249878, rs1400601705, rs1555252086, rs745907077, rs1555249371, rs1555249904, rs1555393393, rs1028098148, rs766711286, rs767164213, rs1470672632, rs1555252184, rs1224762841, rs769329153, rs1555254734, rs1555397331, rs941230062, rs545219731, rs200832994, rs1555250255, rs1240368715, rs1555393338, rs1049504575, rs1485209013, rs868672014, rs1214483973, rs558285072, rs1555398241, rs1186788102, rs981804211, rs935301743, rs1555251822, rs1555255676, rs369459721, rs772400670, rs1558119445, rs759033144, rs1565705251, rs1566055368, rs1566058677, rs1006060877, rs1448182827, rs1569544908, rs754944359, rs754944429, rs1569544723, rs1569285562, rs367916692, rs1566893090, rs1177577061, rs1566881181, rs1569280986, rs1590847310, rs746220436, rs1569281085, rs529495094, rs1563920268, rs1563920252, rs1563920172, rs1563919973, rs1563920000, rs1563920132, rs751568153, rs1569274606, rs1455411788, rs1571908452, rs768640920, rs1578729121, rs1585896928, rs1585808059, rs1588001500, rs1011987148, rs1594915468, rs1594925773, rs1361370524, rs1593121507, rs1365858851, rs1593125341, rs1181477970, rs1593129673, rs1593133395, rs1593133714, rs1593144167, rs1593144544, rs1593144887, rs767435985, rs1593147785, rs994374354, rs1593157923, rs1594900921, rs1594906944, rs1594910045, rs1594913346, rs1594930532, rs1594938339, rs140354725, rs1418885000, rs1603275195, rs1603276234, rs1574077569, rs1603275315, rs1587878722, rs1587879449, rs1593133607, rs770490672, rs1602099961, rs778722037, rs756830713, rs1593121484, rs763869212, rs1594912625, rs1597556143, rs778113360, rs377278120, rs933233143, rs1572337800, rs1573072864, rs1593125290, rs1593126754, rs1593123432, rs1571563769, rs1584514057, rs772704931, rs1587878961, rs1802811311, rs1052410160, rs1298132281, rs748480664, rs139015012, rs1340636078, rs927804920, rs1883405453, rs1883566609, rs1868403104, rs1868480299, rs1868481514, rs1868567420, rs1868626730, rs1868628768, rs1868872666, rs1869006331, rs769212398, rs757179309, rs2039098098, rs2039228359, rs774867891, rs2039613696, rs2039616151, rs2039786680, rs2039997721, rs748149642, rs2040215878, rs760484081, rs1204169977, rs367665974, rs201311640, rs1034820850, rs1930458591, rs1882179247, rs2039758874, rs1885117995, rs1805435464
Spastic paraplegia, intellectual disability, nystagmus, and obesity	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY, Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome	rs59565950, rs1057519300, rs1057519301, rs1057519302, rs1553305080, rs34141362	27005418, 29667355

Show/Hide Unknown Diseases (8)

Unknown
Disease name	Disease term	dbSNP ID	References
Astigmatism	Astigmatism
Cerebral atrophy	Cerebral atrophy
Congenital epicanthus	Congenital Epicanthus
Esophoria	Esophoria
Esotropia	Esotropia
Hyperopia	Hyperopia
Hypoplasia of corpus callosum	Hypoplasia of corpus callosum
Plagiocephaly	Plagiocephaly

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