KIDINS220 (kinase D interacting substrate 220)

Gene

• Entrez ID: 57498
• Gene name: Kinase D interacting substrate 220
• Gene symbol: KIDINS220
• Synonyms (NCBI Gene): ARMS, SINO, VENARG
• Chromosome: 2
• Chromosome location: 2p25.1
• Summary: 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

SNPs

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

miRNA

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001701	Process	In utero embryonic development	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005768	Component	Endosome	IEA
GO:0005770	Component	Late endosome	IEA
GO:0005770	Component	Late endosome	ISS
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0007399	Process	Nervous system development	IEA
GO:0010976	Process	Positive regulation of neuron projection development	ISS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0019887	Function	Protein kinase regulator activity	IBA
GO:0030165	Function	PDZ domain binding	ISS
GO:0032991	Component	Protein-containing complex	ISS
GO:0038180	Process	Nerve growth factor signaling pathway	IBA
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

Other IDs

• MIM: 615759
• HGNC: 29508
• e!Ensembl: 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

• Tissue specificity: TISSUE SPECIFICITY: Abundant in developing and adult neural tissues as well as neuroendocrine cells and dendritic cells. Overexpressed in melanoma and melanoma cell lines. {ECO:0000269|PubMed:18089783}.
• 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

Pathways

KEGG:

Neurotrophin signaling pathway

Reactome:

ARMS-mediated activation

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Cerebral palsy	Likely pathogenic	rs2147944830	RCV001796576	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
KCNA1-related disorder	Likely pathogenic	rs2147947336	RCV003388188	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
KIDINS220-related disorder	Pathogenic; Likely pathogenic	rs1673531830, rs1438054052	RCV004741590 RCV003419215	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic paraplegia, intellectual disability, nystagmus, and obesity	Pathogenic; Likely pathogenic	rs2147945425, rs1664428695, rs2147945457, rs1666821581, rs2527616848, rs2527403784, rs755294265, rs2527407129, rs1057519300, rs1057519301, rs1057519302, rs1553305080, rs34141362	RCV001582417 RCV001809081 RCV002052181 RCV002250074 RCV002471372 RCV002574756 RCV003340919 RCV003458980 RCV000415590 RCV000415519 RCV000415551 RCV000655952 RCV003225957	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ventriculomegaly and arthrogryposis	Pathogenic	rs2148046960, rs2148397528, rs2148246019, rs2527596188	RCV001582418 RCV001582419 RCV001582420 RCV003152954	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early onset severe obesity	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KABUKI MAKE-UP SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kabuki syndrome 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	21518597		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	25156817		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	26314409		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	27269047		★☆☆☆☆ Found in Text Mining only
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	40317787	Associate	★☆☆☆☆ Found in Text Mining only
Alloimmunisation	Alloimmunisation	BEFREE	7860359		★☆☆☆☆ Found in Text Mining only
Alveolar rhabdomyosarcoma	Alveolar Rhabdomyosarcoma	BEFREE	20934630, 23432728, 24173021, 31462179		★☆☆☆☆ Found in Text Mining only
Apraxia oculomotor Cogan type	Apraxia	Pubtator	31577543	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	14735148, 16393721, 20934630		★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder	Attention Deficit Hyperactivity Disorder	BEFREE	27211562		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	27211562		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	14727457, 18998137, 20191386		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	18058470, 28259691		★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	BEFREE	11336396, 18759082, 19254853		★☆☆☆☆ Found in Text Mining only
beta^+^ Thalassemia	beta Thalassemia	BEFREE	11336396, 18759082, 19254853		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	19815090, 24390231		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21643959		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	19815090, 24390231		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	11106325		★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular Abnormalities	BEFREE	28849114		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	19759287		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	28550450		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	17417945		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	27211562		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	27211562	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21113056, 26747035, 30009773		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	21567207		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	21567207		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	21567207		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	23118350		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	26118823		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	17121585		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	31577543, 40317787	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	25063576		★☆☆☆☆ Found in Text Mining only
Diabetic Neuropathies	Diabetic Nephropathy	BEFREE	20352346		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	17121585		★☆☆☆☆ Found in Text Mining only
Embryonal Rhabdomyosarcoma	Embryonal Rhabdomyosarcoma	BEFREE	31462179		★☆☆☆☆ Found in Text Mining only
Esophoria	Esophoria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	24846856		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	38035704	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemoglobinopathies	Hemoglobinopathy	BEFREE	21435192		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	29769266, 31264746		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	Pubtator	40317787	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	17539906		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	20140004		★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	27211562		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	31577543	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	31630374		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	17417945		★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	16546428		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	8311559		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	26324127		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21643959, 23314198		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	11106325		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	18058470, 27329728, 28259691		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	19815090, 24390231		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21643959, 22178231, 26740090, 28993831, 29181864		★☆☆☆☆ Found in Text Mining only
Mastocytosis	Mastocytosis	BEFREE	25582384		★☆☆☆☆ Found in Text Mining only
Mastocytosis, Systemic	Mastocytosis	BEFREE	25582384		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	18089783		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	38035704	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	26118823		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	24897239, 26771965		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	40317787	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	22088533		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	16572198		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18032883, 23803047, 23999075, 25446878, 26562020, 26722512, 28000387, 28829813, 28849114, 30452268, 31106124, 31350181		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	23333500, 23999075		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	23999075, 38035704	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	27211562	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	23118350		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	28934391		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	23803047, 24002698, 26722512, 28000387, 29214771, 30339193		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	24486144, 27765522, 27863046, 30503781		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus Pathologic	Nystagmus	Pubtator	31577543	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	31577543	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	31630374		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	35437317, 38035704	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	38035704	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	25755776, 30009773		★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	31577543	Associate	★☆☆☆☆ Found in Text Mining only
Plagiocephaly	Plagiocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	31248375		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	18058470, 27329728, 28259691		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	38035704	Associate	★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	24486144, 27765522, 27863046, 30503781, 31657288		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	27211562	Associate	★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	16546428		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	18094995, 24173021, 31462179		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	19055603, 29168332		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	20570494, 26118823, 27765522		★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	24642668		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	BEFREE	31630374		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY	Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	BEFREE	27005418, 28934391, 31630374		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY	Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	GENOMICS_ENGLAND_DG	27005418, 29667355		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY	Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	ORPHANET_DG	27005418		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY	Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome	Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Orphanet			★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	20025960		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	38035704	Stimulate	★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	24846856		★☆☆☆☆ Found in Text Mining only
Thyroid Nodule	Thyroid Nodule	BEFREE	31441082		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	28700671		★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	28700671		★☆☆☆☆ Found in Text Mining only