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TCF12 (transcription factor 12)

Gene

6938

Transcription factor 12

TCF12

CRS3, HEB, HH26, HTF4, HsT17266, TCF-12, bHLHb20, p64

15q21.3

The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH) E-protein family that recognizes the consensus binding site (E-box) CANNTG. This encoded protein is expressed in many tissues, among them skeletal muscle, thymus, B- and T-c

Show/Hide all(20)

SNP ID	Visualize variation	Clinical significance	Consequence
rs398122381	C>G	Pathogenic	Coding sequence variant, intron variant, stop gained
rs554037047	C>A,T	Likely-pathogenic	Intron variant, coding sequence variant, missense variant, stop gained
rs758543580	C>T	Pathogenic	Stop gained, coding sequence variant
rs878853094	G>A	Likely-pathogenic	Intron variant
rs886037636	C>G	Pathogenic	Coding sequence variant, stop gained
rs886037637	->T	Pathogenic	Frameshift variant, coding sequence variant
rs886037638	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs886037639	G>T	Pathogenic	Coding sequence variant, stop gained
rs886037640	G>C	Pathogenic	Intron variant
rs886037641	C>G	Pathogenic	Coding sequence variant, missense variant
rs1057520132	->CT	Pathogenic	Coding sequence variant, frameshift variant
rs1057524509	G>T	Likely-pathogenic	Splice acceptor variant
rs1555392502	TCAG>-	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs1555402525	AT>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1555409014	G>A	Likely-pathogenic, not-provided	Stop gained, coding sequence variant
rs1555412971	GAAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1566992093	G>C	Likely-pathogenic	Splice donor variant
rs1597483678	->A	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1597730335	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1597816045	T>-	Likely-pathogenic	Coding sequence variant, stop gained

Show/Hide all(411)

miRTarBase ID	miRNA	Experiments	Reference
MIRT005845	hsa-miR-204-5p	Luciferase reporter assay, Microarray, qRT-PCR	21282569
MIRT005845	hsa-miR-204-5p	Immunofluorescence, Microarray, qRT-PCR, Western blot	22523078
MIRT006464	hsa-miR-211-5p	Immunofluorescence, Microarray, qRT-PCR, Western blot	22523078
MIRT005845	hsa-miR-204-5p	Immunofluorescence, Microarray, qRT-PCR, Western blot	22523078
MIRT006464	hsa-miR-211-5p	Immunofluorescence, Microarray, qRT-PCR, Western blot	22523078
MIRT019970	hsa-miR-375	Microarray	20215506
MIRT020994	hsa-miR-155-5p	Reporter assay;Other	20584899
MIRT030001	hsa-miR-26b-5p	Microarray	19088304
MIRT036549	hsa-miR-1224-3p	CLASH	23622248
MIRT611857	hsa-miR-8485	HITS-CLIP	23824327
MIRT611857	hsa-miR-8485	HITS-CLIP	23824327
MIRT611857	hsa-miR-8485	HITS-CLIP	23824327
MIRT611857	hsa-miR-8485	HITS-CLIP	23824327
MIRT611857	hsa-miR-8485	HITS-CLIP	23824327
MIRT611857	hsa-miR-8485	HITS-CLIP	23824327
MIRT611857	hsa-miR-8485	HITS-CLIP	23824327
MIRT611857	hsa-miR-8485	HITS-CLIP	23824327
MIRT611857	hsa-miR-8485	HITS-CLIP	23824327
MIRT611857	hsa-miR-8485	HITS-CLIP	23824327
MIRT611857	hsa-miR-8485	HITS-CLIP	23824327
MIRT611857	hsa-miR-8485	HITS-CLIP	23824327
MIRT611857	hsa-miR-8485	HITS-CLIP	23824327
MIRT611857	hsa-miR-8485	HITS-CLIP	23824327
MIRT611857	hsa-miR-8485	HITS-CLIP	23824327
MIRT611857	hsa-miR-8485	HITS-CLIP	23824327
MIRT611857	hsa-miR-8485	HITS-CLIP	23824327
MIRT611857	hsa-miR-8485	HITS-CLIP	23824327
MIRT443797	hsa-miR-139-5p	PAR-CLIP	22100165
MIRT443796	hsa-miR-33a-3p	PAR-CLIP	22100165
MIRT281481	hsa-miR-548v	PAR-CLIP	22100165
MIRT611857	hsa-miR-8485	HITS-CLIP	23824327
MIRT611857	hsa-miR-8485	HITS-CLIP	23824327
MIRT611857	hsa-miR-8485	HITS-CLIP	23824327
MIRT611857	hsa-miR-8485	HITS-CLIP	23824327
MIRT611857	hsa-miR-8485	HITS-CLIP	23824327
MIRT611857	hsa-miR-8485	HITS-CLIP	23824327
MIRT611857	hsa-miR-8485	HITS-CLIP	23824327
MIRT611857	hsa-miR-8485	HITS-CLIP	23824327
MIRT611857	hsa-miR-8485	HITS-CLIP	23824327
MIRT611857	hsa-miR-8485	HITS-CLIP	23824327
MIRT611857	hsa-miR-8485	HITS-CLIP	23824327
MIRT611857	hsa-miR-8485	HITS-CLIP	23824327
MIRT611857	hsa-miR-8485	HITS-CLIP	23824327
MIRT611857	hsa-miR-8485	HITS-CLIP	23824327
MIRT611857	hsa-miR-8485	HITS-CLIP	23824327
MIRT611857	hsa-miR-8485	HITS-CLIP	23824327
MIRT611857	hsa-miR-8485	HITS-CLIP	23824327
MIRT611857	hsa-miR-8485	HITS-CLIP	23824327
MIRT443797	hsa-miR-139-5p	PAR-CLIP	22100165
MIRT443796	hsa-miR-33a-3p	PAR-CLIP	22100165
MIRT281481	hsa-miR-548v	PAR-CLIP	22100165
MIRT1415923	hsa-miR-1258	CLIP-seq
MIRT1415924	hsa-miR-1275	CLIP-seq
MIRT1415925	hsa-miR-1297	CLIP-seq
MIRT1415926	hsa-miR-141	CLIP-seq
MIRT1415927	hsa-miR-19a	CLIP-seq
MIRT1415928	hsa-miR-19b	CLIP-seq
MIRT1415929	hsa-miR-200a	CLIP-seq
MIRT1415930	hsa-miR-2052	CLIP-seq
MIRT1415931	hsa-miR-2113	CLIP-seq
MIRT1415932	hsa-miR-218	CLIP-seq
MIRT1415933	hsa-miR-26a	CLIP-seq
MIRT1415934	hsa-miR-26b	CLIP-seq
MIRT1415935	hsa-miR-3123	CLIP-seq
MIRT1415936	hsa-miR-330-3p	CLIP-seq
MIRT1415937	hsa-miR-3920	CLIP-seq
MIRT1415938	hsa-miR-3925-5p	CLIP-seq
MIRT1415939	hsa-miR-4260	CLIP-seq
MIRT1415940	hsa-miR-4446-3p	CLIP-seq
MIRT1415941	hsa-miR-4465	CLIP-seq
MIRT1415942	hsa-miR-4525	CLIP-seq
MIRT1415943	hsa-miR-4665-5p	CLIP-seq
MIRT1415944	hsa-miR-4668-5p	CLIP-seq
MIRT1415945	hsa-miR-4723-5p	CLIP-seq
MIRT1415946	hsa-miR-4793-5p	CLIP-seq
MIRT1415947	hsa-miR-518a-5p	CLIP-seq
MIRT1415948	hsa-miR-527	CLIP-seq
MIRT1415949	hsa-miR-578	CLIP-seq
MIRT1415950	hsa-miR-600	CLIP-seq
MIRT1415951	hsa-miR-625	CLIP-seq
MIRT1415952	hsa-miR-636	CLIP-seq
MIRT1415953	hsa-miR-659	CLIP-seq
MIRT1415954	hsa-miR-1245	CLIP-seq
MIRT1415923	hsa-miR-1258	CLIP-seq
MIRT1415955	hsa-miR-1278	CLIP-seq
MIRT1415956	hsa-miR-1302	CLIP-seq
MIRT1415957	hsa-miR-149	CLIP-seq
MIRT1415958	hsa-miR-155	CLIP-seq
MIRT1415959	hsa-miR-2116	CLIP-seq
MIRT1415960	hsa-miR-221	CLIP-seq
MIRT1415961	hsa-miR-222	CLIP-seq
MIRT1415962	hsa-miR-2355-5p	CLIP-seq
MIRT1415963	hsa-miR-24	CLIP-seq
MIRT1415964	hsa-miR-299-5p	CLIP-seq
MIRT1415965	hsa-miR-3064-5p	CLIP-seq
MIRT1415966	hsa-miR-3120-5p	CLIP-seq
MIRT1415967	hsa-miR-3122	CLIP-seq
MIRT1415968	hsa-miR-3126-3p	CLIP-seq
MIRT1415969	hsa-miR-3671	CLIP-seq
MIRT1415970	hsa-miR-376c	CLIP-seq
MIRT1415971	hsa-miR-3913-5p	CLIP-seq
MIRT1415937	hsa-miR-3920	CLIP-seq
MIRT1415972	hsa-miR-4273	CLIP-seq
MIRT1415973	hsa-miR-4284	CLIP-seq
MIRT1415974	hsa-miR-4298	CLIP-seq
MIRT1415975	hsa-miR-431	CLIP-seq
MIRT1415976	hsa-miR-4503	CLIP-seq
MIRT1415977	hsa-miR-4513	CLIP-seq
MIRT1415978	hsa-miR-4677-5p	CLIP-seq
MIRT1415979	hsa-miR-4688	CLIP-seq
MIRT1415946	hsa-miR-4793-5p	CLIP-seq
MIRT1415980	hsa-miR-4794	CLIP-seq
MIRT1415981	hsa-miR-486-3p	CLIP-seq
MIRT1415982	hsa-miR-548a-5p	CLIP-seq
MIRT1415983	hsa-miR-548ab	CLIP-seq
MIRT1415984	hsa-miR-548ak	CLIP-seq
MIRT1415985	hsa-miR-548b-5p	CLIP-seq
MIRT1415986	hsa-miR-548c-5p	CLIP-seq
MIRT1415987	hsa-miR-548d-5p	CLIP-seq
MIRT1415988	hsa-miR-548h	CLIP-seq
MIRT1415989	hsa-miR-548i	CLIP-seq
MIRT1415990	hsa-miR-548j	CLIP-seq
MIRT1415991	hsa-miR-548k	CLIP-seq
MIRT1415992	hsa-miR-548l	CLIP-seq
MIRT1415993	hsa-miR-548w	CLIP-seq
MIRT1415994	hsa-miR-548y	CLIP-seq
MIRT1415995	hsa-miR-559	CLIP-seq
MIRT1415996	hsa-miR-607	CLIP-seq
MIRT1415997	hsa-miR-1185	CLIP-seq
MIRT1415998	hsa-miR-138	CLIP-seq
MIRT1415999	hsa-miR-183	CLIP-seq
MIRT1415931	hsa-miR-2113	CLIP-seq
MIRT1415932	hsa-miR-218	CLIP-seq
MIRT1416000	hsa-miR-31	CLIP-seq
MIRT1416001	hsa-miR-3149	CLIP-seq
MIRT1416002	hsa-miR-3545-3p	CLIP-seq
MIRT1416003	hsa-miR-3679-5p	CLIP-seq
MIRT1416004	hsa-miR-4282	CLIP-seq
MIRT1416005	hsa-miR-548c-3p	CLIP-seq
MIRT1416006	hsa-miR-563	CLIP-seq
MIRT1416007	hsa-miR-664	CLIP-seq
MIRT2124768	hsa-miR-1206	CLIP-seq
MIRT2124769	hsa-miR-150	CLIP-seq
MIRT2124770	hsa-miR-1915	CLIP-seq
MIRT2124771	hsa-miR-204	CLIP-seq
MIRT2124772	hsa-miR-211	CLIP-seq
MIRT2124773	hsa-miR-296-3p	CLIP-seq
MIRT1415937	hsa-miR-3920	CLIP-seq
MIRT2124774	hsa-miR-4713-5p	CLIP-seq
MIRT2124775	hsa-miR-4726-3p	CLIP-seq
MIRT2124776	hsa-miR-4729	CLIP-seq
MIRT2124777	hsa-miR-4755-5p	CLIP-seq
MIRT2124778	hsa-miR-4768-5p	CLIP-seq
MIRT2124779	hsa-miR-532-3p	CLIP-seq
MIRT2124780	hsa-miR-579	CLIP-seq
MIRT2124781	hsa-miR-623	CLIP-seq
MIRT2124777	hsa-miR-4755-5p	CLIP-seq
MIRT2347185	hsa-miR-1253	CLIP-seq
MIRT1415926	hsa-miR-141	CLIP-seq
MIRT2124769	hsa-miR-150	CLIP-seq
MIRT2347186	hsa-miR-1587	CLIP-seq
MIRT2124770	hsa-miR-1915	CLIP-seq
MIRT1415929	hsa-miR-200a	CLIP-seq
MIRT2124773	hsa-miR-296-3p	CLIP-seq
MIRT2347187	hsa-miR-297	CLIP-seq
MIRT2347188	hsa-miR-3165	CLIP-seq
MIRT2347189	hsa-miR-3182	CLIP-seq
MIRT2347190	hsa-miR-3190	CLIP-seq
MIRT2347191	hsa-miR-3200-5p	CLIP-seq
MIRT2347192	hsa-miR-3668	CLIP-seq
MIRT1415937	hsa-miR-3920	CLIP-seq
MIRT2347193	hsa-miR-4307	CLIP-seq
MIRT2347194	hsa-miR-4492	CLIP-seq
MIRT2347195	hsa-miR-4498	CLIP-seq
MIRT2347196	hsa-miR-4502	CLIP-seq
MIRT2347197	hsa-miR-4652-3p	CLIP-seq
MIRT2347198	hsa-miR-4656	CLIP-seq
MIRT2347199	hsa-miR-4675	CLIP-seq
MIRT2347200	hsa-miR-4684-3p	CLIP-seq
MIRT2124774	hsa-miR-4713-5p	CLIP-seq
MIRT2124775	hsa-miR-4726-3p	CLIP-seq
MIRT2347201	hsa-miR-4741	CLIP-seq
MIRT2124777	hsa-miR-4755-5p	CLIP-seq
MIRT2347202	hsa-miR-4760-3p	CLIP-seq
MIRT2124778	hsa-miR-4768-5p	CLIP-seq
MIRT1415947	hsa-miR-518a-5p	CLIP-seq
MIRT1415948	hsa-miR-527	CLIP-seq
MIRT2124779	hsa-miR-532-3p	CLIP-seq
MIRT2347203	hsa-miR-556-5p	CLIP-seq
MIRT2347204	hsa-miR-567	CLIP-seq
MIRT1415950	hsa-miR-600	CLIP-seq
MIRT2347205	hsa-miR-7	CLIP-seq
MIRT2347206	hsa-miR-762	CLIP-seq
MIRT2347207	hsa-miR-891b	CLIP-seq
MIRT1415926	hsa-miR-141	CLIP-seq
MIRT1415929	hsa-miR-200a	CLIP-seq
MIRT2124771	hsa-miR-204	CLIP-seq
MIRT2124772	hsa-miR-211	CLIP-seq
MIRT2640051	hsa-miR-3148	CLIP-seq
MIRT2640052	hsa-miR-3613-3p	CLIP-seq
MIRT2347192	hsa-miR-3668	CLIP-seq
MIRT2640053	hsa-miR-3688-3p	CLIP-seq
MIRT2640054	hsa-miR-4434	CLIP-seq
MIRT2640055	hsa-miR-4516	CLIP-seq
MIRT2640056	hsa-miR-4531	CLIP-seq
MIRT1415978	hsa-miR-4677-5p	CLIP-seq
MIRT2124777	hsa-miR-4755-5p	CLIP-seq
MIRT1416005	hsa-miR-548c-3p	CLIP-seq
MIRT2640057	hsa-miR-570	CLIP-seq
MIRT1415950	hsa-miR-600	CLIP-seq
MIRT2124781	hsa-miR-623	CLIP-seq
MIRT1415926	hsa-miR-141	CLIP-seq
MIRT1415929	hsa-miR-200a	CLIP-seq
MIRT2124771	hsa-miR-204	CLIP-seq
MIRT2124772	hsa-miR-211	CLIP-seq
MIRT2347192	hsa-miR-3668	CLIP-seq
MIRT2640054	hsa-miR-4434	CLIP-seq
MIRT2640055	hsa-miR-4516	CLIP-seq
MIRT2640056	hsa-miR-4531	CLIP-seq
MIRT1415978	hsa-miR-4677-5p	CLIP-seq
MIRT2124777	hsa-miR-4755-5p	CLIP-seq
MIRT1415950	hsa-miR-600	CLIP-seq
MIRT2124781	hsa-miR-623	CLIP-seq
MIRT1415926	hsa-miR-141	CLIP-seq
MIRT1415929	hsa-miR-200a	CLIP-seq
MIRT2124771	hsa-miR-204	CLIP-seq
MIRT2124772	hsa-miR-211	CLIP-seq
MIRT2347192	hsa-miR-3668	CLIP-seq
MIRT1416004	hsa-miR-4282	CLIP-seq
MIRT2640054	hsa-miR-4434	CLIP-seq
MIRT2640055	hsa-miR-4516	CLIP-seq
MIRT2640056	hsa-miR-4531	CLIP-seq
MIRT1415978	hsa-miR-4677-5p	CLIP-seq
MIRT2124777	hsa-miR-4755-5p	CLIP-seq
MIRT1415950	hsa-miR-600	CLIP-seq
MIRT2124781	hsa-miR-623	CLIP-seq
MIRT2692756	hsa-miR-1208	CLIP-seq
MIRT1415926	hsa-miR-141	CLIP-seq
MIRT1415929	hsa-miR-200a	CLIP-seq
MIRT2124771	hsa-miR-204	CLIP-seq
MIRT2124772	hsa-miR-211	CLIP-seq
MIRT2347192	hsa-miR-3668	CLIP-seq
MIRT2692757	hsa-miR-4252	CLIP-seq
MIRT2640054	hsa-miR-4434	CLIP-seq
MIRT2640055	hsa-miR-4516	CLIP-seq
MIRT2640056	hsa-miR-4531	CLIP-seq
MIRT1415978	hsa-miR-4677-5p	CLIP-seq
MIRT2124777	hsa-miR-4755-5p	CLIP-seq
MIRT1415950	hsa-miR-600	CLIP-seq
MIRT2124781	hsa-miR-623	CLIP-seq
MIRT2692758	hsa-miR-1183	CLIP-seq
MIRT2692759	hsa-miR-1207-3p	CLIP-seq
MIRT2692756	hsa-miR-1208	CLIP-seq
MIRT1415954	hsa-miR-1245	CLIP-seq
MIRT2347185	hsa-miR-1253	CLIP-seq
MIRT1415923	hsa-miR-1258	CLIP-seq
MIRT2692760	hsa-miR-1267	CLIP-seq
MIRT1415955	hsa-miR-1278	CLIP-seq
MIRT1415956	hsa-miR-1302	CLIP-seq
MIRT2692761	hsa-miR-1303	CLIP-seq
MIRT1415998	hsa-miR-138	CLIP-seq
MIRT1415926	hsa-miR-141	CLIP-seq
MIRT1415957	hsa-miR-149	CLIP-seq
MIRT2124769	hsa-miR-150	CLIP-seq
MIRT1415958	hsa-miR-155	CLIP-seq
MIRT2692762	hsa-miR-1911	CLIP-seq
MIRT2124770	hsa-miR-1915	CLIP-seq
MIRT1415929	hsa-miR-200a	CLIP-seq
MIRT2692763	hsa-miR-203	CLIP-seq
MIRT2124771	hsa-miR-204	CLIP-seq
MIRT2692764	hsa-miR-2054	CLIP-seq
MIRT2124772	hsa-miR-211	CLIP-seq
MIRT1415959	hsa-miR-2116	CLIP-seq
MIRT2692765	hsa-miR-2117	CLIP-seq
MIRT1415960	hsa-miR-221	CLIP-seq
MIRT1415961	hsa-miR-222	CLIP-seq
MIRT2692766	hsa-miR-2276	CLIP-seq
MIRT1415962	hsa-miR-2355-5p	CLIP-seq
MIRT1415963	hsa-miR-24	CLIP-seq
MIRT2124773	hsa-miR-296-3p	CLIP-seq
MIRT2347187	hsa-miR-297	CLIP-seq
MIRT1415964	hsa-miR-299-5p	CLIP-seq
MIRT1415965	hsa-miR-3064-5p	CLIP-seq
MIRT1415966	hsa-miR-3120-5p	CLIP-seq
MIRT1415967	hsa-miR-3122	CLIP-seq
MIRT2692767	hsa-miR-3124-3p	CLIP-seq
MIRT1415968	hsa-miR-3126-3p	CLIP-seq
MIRT2692768	hsa-miR-3130-3p	CLIP-seq
MIRT2692769	hsa-miR-3145-3p	CLIP-seq
MIRT2692770	hsa-miR-3145-5p	CLIP-seq
MIRT2692771	hsa-miR-3146	CLIP-seq
MIRT2640051	hsa-miR-3148	CLIP-seq
MIRT2692772	hsa-miR-3163	CLIP-seq
MIRT2347188	hsa-miR-3165	CLIP-seq
MIRT2347189	hsa-miR-3182	CLIP-seq
MIRT2692773	hsa-miR-3185	CLIP-seq
MIRT2347190	hsa-miR-3190	CLIP-seq
MIRT2692774	hsa-miR-337-3p	CLIP-seq
MIRT2692775	hsa-miR-338-5p	CLIP-seq
MIRT1416002	hsa-miR-3545-3p	CLIP-seq
MIRT2692776	hsa-miR-3591-3p	CLIP-seq
MIRT2692777	hsa-miR-3609	CLIP-seq
MIRT2640052	hsa-miR-3613-3p	CLIP-seq
MIRT2692778	hsa-miR-3646	CLIP-seq
MIRT2692779	hsa-miR-3659	CLIP-seq
MIRT2692780	hsa-miR-3662	CLIP-seq
MIRT2347192	hsa-miR-3668	CLIP-seq
MIRT1415969	hsa-miR-3671	CLIP-seq
MIRT2692781	hsa-miR-3684	CLIP-seq
MIRT2692782	hsa-miR-3685	CLIP-seq
MIRT2640053	hsa-miR-3688-3p	CLIP-seq
MIRT2692783	hsa-miR-3692	CLIP-seq
MIRT1415970	hsa-miR-376c	CLIP-seq
MIRT2692784	hsa-miR-377	CLIP-seq
MIRT2692785	hsa-miR-384	CLIP-seq
MIRT1415971	hsa-miR-3913-5p	CLIP-seq
MIRT1415937	hsa-miR-3920	CLIP-seq
MIRT2692786	hsa-miR-3922-5p	CLIP-seq
MIRT2692787	hsa-miR-3935	CLIP-seq
MIRT2692788	hsa-miR-3942-3p	CLIP-seq
MIRT2692789	hsa-miR-3973	CLIP-seq
MIRT2692790	hsa-miR-3978	CLIP-seq
MIRT2692791	hsa-miR-410	CLIP-seq
MIRT2692757	hsa-miR-4252	CLIP-seq
MIRT2692792	hsa-miR-4261	CLIP-seq
MIRT2692793	hsa-miR-4263	CLIP-seq
MIRT1415972	hsa-miR-4273	CLIP-seq
MIRT2692794	hsa-miR-4280	CLIP-seq
MIRT1416004	hsa-miR-4282	CLIP-seq
MIRT1415973	hsa-miR-4284	CLIP-seq
MIRT1415974	hsa-miR-4298	CLIP-seq
MIRT2347193	hsa-miR-4307	CLIP-seq
MIRT1415975	hsa-miR-431	CLIP-seq
MIRT2692795	hsa-miR-4311	CLIP-seq
MIRT2640054	hsa-miR-4434	CLIP-seq
MIRT2692796	hsa-miR-4446-5p	CLIP-seq
MIRT2692797	hsa-miR-4477a	CLIP-seq
MIRT1415976	hsa-miR-4503	CLIP-seq
MIRT2640055	hsa-miR-4516	CLIP-seq
MIRT2692798	hsa-miR-451b	CLIP-seq
MIRT2640056	hsa-miR-4531	CLIP-seq
MIRT2692799	hsa-miR-4642	CLIP-seq
MIRT2347197	hsa-miR-4652-3p	CLIP-seq
MIRT2692800	hsa-miR-4658	CLIP-seq
MIRT1415978	hsa-miR-4677-5p	CLIP-seq
MIRT1415979	hsa-miR-4688	CLIP-seq
MIRT2692801	hsa-miR-4711-5p	CLIP-seq
MIRT2692802	hsa-miR-4712-3p	CLIP-seq
MIRT2124774	hsa-miR-4713-5p	CLIP-seq
MIRT2692803	hsa-miR-4717-5p	CLIP-seq
MIRT2692804	hsa-miR-4720-5p	CLIP-seq
MIRT2124775	hsa-miR-4726-3p	CLIP-seq
MIRT2692805	hsa-miR-4728-3p	CLIP-seq
MIRT2692806	hsa-miR-4738-3p	CLIP-seq
MIRT2692807	hsa-miR-4753-5p	CLIP-seq
MIRT2124777	hsa-miR-4755-5p	CLIP-seq
MIRT2347202	hsa-miR-4760-3p	CLIP-seq
MIRT2692808	hsa-miR-4762-5p	CLIP-seq
MIRT2124778	hsa-miR-4768-5p	CLIP-seq
MIRT2692809	hsa-miR-4772-3p	CLIP-seq
MIRT2692810	hsa-miR-4780	CLIP-seq
MIRT2692811	hsa-miR-4793-3p	CLIP-seq
MIRT1415946	hsa-miR-4793-5p	CLIP-seq
MIRT1415980	hsa-miR-4794	CLIP-seq
MIRT2692812	hsa-miR-4799-3p	CLIP-seq
MIRT2692813	hsa-miR-4799-5p	CLIP-seq
MIRT1415981	hsa-miR-486-3p	CLIP-seq
MIRT2692814	hsa-miR-490-5p	CLIP-seq
MIRT2692815	hsa-miR-508-5p	CLIP-seq
MIRT2692816	hsa-miR-511	CLIP-seq
MIRT2692817	hsa-miR-515-5p	CLIP-seq
MIRT2692818	hsa-miR-520g	CLIP-seq
MIRT2692819	hsa-miR-520h	CLIP-seq
MIRT2124779	hsa-miR-532-3p	CLIP-seq
MIRT2692820	hsa-miR-539	CLIP-seq
MIRT1415982	hsa-miR-548a-5p	CLIP-seq
MIRT1415983	hsa-miR-548ab	CLIP-seq
MIRT2692821	hsa-miR-548ah	CLIP-seq
MIRT1415984	hsa-miR-548ak	CLIP-seq
MIRT1415985	hsa-miR-548b-5p	CLIP-seq
MIRT1416005	hsa-miR-548c-3p	CLIP-seq
MIRT1415986	hsa-miR-548c-5p	CLIP-seq
MIRT1415987	hsa-miR-548d-5p	CLIP-seq
MIRT2692822	hsa-miR-548g	CLIP-seq
MIRT1415988	hsa-miR-548h	CLIP-seq
MIRT1415989	hsa-miR-548i	CLIP-seq
MIRT1415990	hsa-miR-548j	CLIP-seq
MIRT1415991	hsa-miR-548k	CLIP-seq
MIRT1415992	hsa-miR-548l	CLIP-seq
MIRT2692823	hsa-miR-548n	CLIP-seq
MIRT1415993	hsa-miR-548w	CLIP-seq
MIRT1415994	hsa-miR-548y	CLIP-seq
MIRT1415995	hsa-miR-559	CLIP-seq
MIRT1416006	hsa-miR-563	CLIP-seq
MIRT2347204	hsa-miR-567	CLIP-seq
MIRT2640057	hsa-miR-570	CLIP-seq
MIRT2692824	hsa-miR-574-5p	CLIP-seq
MIRT2692825	hsa-miR-576-5p	CLIP-seq
MIRT2692826	hsa-miR-582-3p	CLIP-seq
MIRT2692827	hsa-miR-582-5p	CLIP-seq
MIRT2692828	hsa-miR-591	CLIP-seq
MIRT1415950	hsa-miR-600	CLIP-seq
MIRT2692829	hsa-miR-602	CLIP-seq
MIRT1415996	hsa-miR-607	CLIP-seq
MIRT2124781	hsa-miR-623	CLIP-seq
MIRT2692830	hsa-miR-642b	CLIP-seq
MIRT2692831	hsa-miR-654-3p	CLIP-seq
MIRT2692832	hsa-miR-668	CLIP-seq
MIRT2347205	hsa-miR-7	CLIP-seq
MIRT2692833	hsa-miR-875-5p	CLIP-seq
MIRT2692834	hsa-miR-944	CLIP-seq

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
CBFA2T3	Unknown	18456661

Show/Hide all(35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IDA	21828274
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription regulatory region sequence-specific DNA binding	IDA	11802795
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	11802795
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	IC	21828274
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	11802795
GO:0003700	Function	DNA-binding transcription factor activity	IDA	11802795
GO:0005515	Function	Protein binding	IPI	9824680, 11802795, 16549780, 19321746, 19497860, 21179004, 21516116, 21828274, 25416956, 25466284, 28169274, 31515488
GO:0005634	Component	Nucleus	IDA	21828274
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IBA	21873635
GO:0005737	Component	Cytoplasm	IDA	21828274
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0006955	Process	Immune response	TAS	1312219
GO:0007399	Process	Nervous system development	IEA
GO:0007517	Process	Muscle organ development	TAS	1312219
GO:0008134	Function	Transcription factor binding	IPI	21828274
GO:0016607	Component	Nuclear speck	IDA
GO:0030154	Process	Cell differentiation	IEA
GO:0035497	Function	CAMP response element binding	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0043425	Function	BHLH transcription factor binding	IPI	21828274
GO:0045666	Process	Positive regulation of neuron differentiation	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	11802795
GO:0046332	Function	SMAD binding	IPI	21828274
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0070888	Function	E-box binding	IEA
GO:0071837	Function	HMG box domain binding	IEA
GO:0090575	Component	RNA polymerase II transcription regulator complex	IDA	11802795
GO:1902036	Process	Regulation of hematopoietic stem cell differentiation	TAS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
600480	11623	ENSG00000140262

Protein

UniProt ID

Q99081

Protein name

Transcription factor 12 (TCF-12) (Class B basic helix-loop-helix protein 20) (bHLHb20) (DNA-binding protein HTF4) (E-box-binding protein) (Transcription factor HTF-4)

Protein function

Transcriptional regulator. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3') (By similarity). May be involved in the functional network that regulates the development of the Gn

PDB

2KNH , 4JOL

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00010	HLH	578 → 631	Helix-loop-helix DNA-binding domain	Domain

Sequence

MNPQQQRMAAIGTDKELSDLLDFSAMFSPPVNSGKTRPTTLGSSQFSGSGIDERGGTTSW
GTSGQPSPSYDSSRGFTDSPHYSDHLNDSRLGAHEGLSPTPFMNSNLMGKTSERGSFSLY
SRDTGLPGCQSSLLRQDLGLGSPAQLSSSGKPGTAYYSFSATSSRRRPLHDSAALDPLQA
KKVRKVPPGLPSSVYAPSPNSDDFNRESPSYPSPKPPTSMFASTFFMQDGTHNSSDLWSS
SNGMSQPGFGGILGTSTSHMSQSSSYGNLHSHDRLSYPPHSVSPTDINTSLPPMSSFHRG
STSSSPYVAASHTPPINGSDSILGTRGNAAGSSQTGDALGKALASIYSPDHTSSSFPSNP
STPVGSPSPLTGTSQWPRPGGQAPSSPSYENSLHSLQSRMEDRLDRLDDAIHVLRNHAVG
PSTSLPAGHSDIHSLLGPSHNAPIGSLNSNYGGSSLVASSRSASMVGTHREDSVSLNGNH
SVLSSTVTTSSTDLNHKTQENYRGGLQSQSGTVVTTEIKTENKEKDENLHEPPSSDDMKS
DDESSQKDIKVSSRGRTSSTNEDEDLNPEQKIEREKERRMANNARERLRVRDINEAFKEL
GRMCQLHLKSEKPQTKLLILHQAVAVILSLEQQVRERNLNPKAACLKRREEEKVSAVSAE
PPTTLPGTHPGLSETTNPMGHM

Sequence length

682

Interactions

View interactions

	Reactome
			Myogenesis RUNX1 regulates transcription of genes involved in differentiation of HSCs NGF-stimulated transcription

Associated diseases

Show/Hide Causal Diseases (6)

Causal
Disease name	Disease term	dbSNP ID	References
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Coronal craniosynostosis	Coronal craniosynostosis	rs1566992093	23354436
Craniosynostosis	Craniosynostosis, CRANIOSYNOSTOSIS 3, Craniosynostosis, Type 1	rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs281865153, rs281865154, rs864321680, rs864321681, rs1057517670, rs1085307122, rs1064794325, rs1884302, rs1555750816, rs1599823350	23354436, 23354436, 24736737, 25271085
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
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
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

Show/Hide Unknown Diseases (13)

Unknown
Disease name	Disease term	dbSNP ID	References
Acrocephaly	Acrocephaly		23354436
Alopecia	Alopecia		28196072
Brachycephaly	Brachycephaly		23354436
Extraskeletal myxoid chondrosarcoma	Extraskeletal Myxoid Chondrosarcoma		11156374
Frontal bossing	Frontal bossing
Metopic synostosis	Metopic synostosis		23354436
Plagiocephaly	Plagiocephaly		23354436
Proptosis	Exophthalmos
Scaphocephaly	Scaphycephaly		23354436
Strabismus	Strabismus
Synostotic anterior plagiocephaly	Synostotic Anterior Plagiocephaly		23354436
Synostotic posterior plagiocephaly	Synostotic Posterior Plagiocephaly		23354436
Trigonocephaly	Trigonocephaly	rs281875280, rs184394424, rs200650442, rs762799389, rs556974765	23354436

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