TCF12 (transcription factor 12)

Gene

• Entrez ID: 6938
• Gene name: Transcription factor 12
• Gene symbol: TCF12
• Synonyms (NCBI Gene): CRS3, HEB, HH26, HTF4, HsT17266, TCF-12, bHLHb20, p64
• Chromosome: 15
• Chromosome location: 15q21.3
• Summary: 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

SNPs

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

miRNA

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

Transcription factor	Regulation	Reference
CBFA2T3	Unknown	18456661

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IBA
GO:0000785	Component	Chromatin	IDA	21828274
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	11802795
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
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
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:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	11802795
GO:0005515	Function	Protein binding	IPI	9824680, 16549780, 16803958, 19321746, 19497860, 20211142, 21179004, 21516116, 21828274, 25416956, 25466284, 25910212, 26496610, 26871637, 28169274, 28514442, 31515488, 32296183, 32353859, 33060197, 33961781, 35140242, 36217030
GO:0005634	Component	Nucleus	IDA	21828274
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IBA
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005737	Component	Cytoplasm	IDA	21828274
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	TAS	8163514
GO:0006955	Process	Immune response	TAS	1312219
GO:0007399	Process	Nervous system development	IEA
GO:0007517	Process	Muscle organ development	TAS	1312219
GO:0010467	Process	Gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0030154	Process	Cell differentiation	IEA
GO:0035497	Function	CAMP response element binding	IEA
GO:0043425	Function	BHLH transcription factor binding	IPI	11802795, 21828274
GO:0045666	Process	Positive regulation of neuron differentiation	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	11802795
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046332	Function	SMAD binding	IPI	21828274
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0046983	Function	Protein dimerization 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:0097210	Process	Response to gonadotropin-releasing hormone	IMP	32620954
GO:0140297	Function	DNA-binding transcription factor binding	IPI	21828274
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 600480
• HGNC: 11623
• e!Ensembl: 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

• Tissue specificity: TISSUE SPECIFICITY: Expressed in several tissues and cell types including skeletal muscle, thymus, and a B-cell line.
• Sequence:

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

• Sequence length: 682

Pathways

Reactome:

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

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
Autism spectrum disorder	Pathogenic	rs1555412971, rs760718747	RCV005410905 RCV005410925	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Coronal craniosynostosis	Likely pathogenic	rs1566992093	RCV000678478	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Craniosynostosis syndrome	Pathogenic; Likely pathogenic	rs2152060519, rs1597730335, rs1597816045	RCV001849585 RCV000984625 RCV000984624	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Delayed speech and language development	Likely pathogenic	rs2551278986	RCV002468807	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental delay	Pathogenic	rs1365354712	RCV003154084	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental disorder	Likely pathogenic	rs2151744236	RCV001843740	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Likely pathogenic	rs2551278986	RCV002468807	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HYPOGONADOTROPIC HYPOGONADISM 26 WITH ANOSMIA	Pathogenic	rs2152056837, rs2152019859, rs2151917567, rs2151710940, rs886037637	RCV001822092 RCV001822093 RCV001822094 RCV001822095 RCV001818229	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypogonadotropic hypogonadism 26 with or without anosmia	Likely pathogenic; Pathogenic	rs2551492702, rs2551047604, rs1057520132, rs760718747	RCV003140630 RCV003314497 RCV003333623 RCV005860184	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Likely pathogenic	rs2551084284, rs2551492642	RCV003991630 RCV003991631	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell lung carcinoma	Pathogenic	rs2151925569	RCV005922667	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TCF12-related craniosynostosis	Pathogenic; Likely pathogenic	rs2152019791, rs2141725707, rs2151925569, rs730880017, rs730880015, rs730880326, rs747222651, rs2551084305, rs878853094, rs1348990547, rs2551443653, rs2551438273, rs2551501300, rs2551469629, rs758543580, rs1555412971, rs554037047, rs1555409014, rs1597483678, rs886037636, rs886037637, rs398122381, rs886037638, rs886037639, rs886037640, rs886037641, rs2059175292, rs760718747, rs2060619071, rs2061224553	RCV001726533 RCV001391268 RCV001822091 RCV000157614 RCV000157615 RCV000157616 RCV002071018 RCV002283611 RCV001283796 RCV003447456 RCV003581943 RCV003985992 RCV004018028 RCV004595262 RCV000415362 RCV000499549 RCV002286413 RCV000845025 RCV000853581 RCV000049324 RCV000049325 RCV000049326 RCV000049327 RCV000049328 RCV000049329 RCV000049330 RCV001263208 RCV005866801 RCV001196018 RCV001265590	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TCF12-related disorder	Likely pathogenic; Pathogenic	rs2551492921, rs2551484992, rs2551469699, rs886037637, rs1417620080	RCV003391378 RCV003404397 RCV003402907 RCV006270344 RCV004731113	★★★★★ 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
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS 3	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EXTRASKELETAL MYXOID CHONDROSARCOMA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadism with anosmia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOGONADOTROPIC HYPOGONADISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOPITUITARISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC GROWTH HORMONE DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KALLMANN SYNDROME	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANHYPOPITUITARISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY DWARFISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY SHORT STATURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHEEHAN SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ 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
Acrocephaly	Acrocephaly	CTD_human_DG	23354436		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	11588043		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	GWASCAT_DG	28196072		★☆☆☆☆ Found in Text Mining only
Anaplastic Oligodendroglioma	Anaplastic Oligodendroglioma	BEFREE	26068201		★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	Pubtator	25871887	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	31595719	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brachycephaly	Brachycephaly	ORPHANET_DG	23354436		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachycephaly	Brachycephaly	CTD_human_DG	23354436		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachycephaly	Brachycephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	21999571		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	27572702		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26068592	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	31534521	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31534521	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	31311684, 31754067, 31789414		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma Extraskeletal Myxoid	Extraskeletal myxoid chondrosarcoma	Pubtator	12598313, 24508382, 36948401	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	16334444, 22130667, 29435158		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22130667, 23386606, 39768127	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	33084842	Associate	★☆☆☆☆ Found in Text Mining only
Congenital myasthenic syndrome ib	Congenital myasthenic syndrome	Pubtator	39768127	Associate	★☆☆☆☆ Found in Text Mining only
Coronal craniosynostosis	Coronal craniosynostosis	BEFREE	23354436, 24648389, 29215649, 31353793		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Coronal craniosynostosis	Coronal craniosynostosis	GENOMICS_ENGLAND_DG	23354436		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Coronal craniosynostosis	Coronal craniosynostosis	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Craniosynostoses	Craniosynostosis	Pubtator	24736737, 25271085, 25871887, 27158814, 36732661	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	BEFREE	23354436, 25271085, 25871887, 27158814, 30392078, 31188878		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	CTD_human_DG	23354436		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS 3	Craniosynostosis	UNIPROT_DG	23354436, 25271085		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS 3	Craniosynostosis	GENOMICS_ENGLAND_DG	23354436, 24736737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS 3	Craniosynostosis	CLINVAR_DG	24736737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis, Type 1	Craniosynostosis	CTD_human_DG	23354436		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	25871887, 33004838	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysmorphism	Dysmorphism	BEFREE	25871887		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	31789414		★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Extraskeletal Myxoid Chondrosarcoma	Extraskeletal Myxoid Chondrosarcoma	BEFREE	11156374, 12826747, 28383167		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Extraskeletal Myxoid Chondrosarcoma	Extraskeletal Myxoid Chondrosarcoma	ORPHANET_DG	11156374		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Extraskeletal myxoid chondrosarcoma	Extraskeletal Myxoid Chondrosarcoma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	27092878		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	30103756	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	40348204	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	27716259, 34603319	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28627687, 31511040		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	25871887		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	27221705		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	33084842	Associate	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	33084842	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrichosis	HYPERTRICHOSIS	BEFREE	29216333		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	24648389, 25871887, 27218255		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	25871887, 27218255	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	28236050, 28488025, 31399749		★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning Disorders	BEFREE	25871887		★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	25871887	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	26671595	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31534521		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	21999571		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27572702		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	27092878		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	31311684		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28651494		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30982999		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21999571, 27221705, 28270234, 28651494		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	31692066		★☆☆☆☆ Found in Text Mining only
Mental impairment	Mental Depression	BEFREE	25871887		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	27218255		★☆☆☆☆ Found in Text Mining only
Metopic synostosis	Metopic synostosis	CTD_human_DG	23354436		★☆☆☆☆ Found in Text Mining only
Muenke Syndrome	Muenke syndrome	Pubtator	29215649	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12598313, 22130667, 26068201, 28651494, 31534521, 31754067, 6513926		★☆☆☆☆ Found in Text Mining only
Oligodendroglioma	Oligodendroglioma	Pubtator	26068201	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	30733679		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	31311684		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	31817464		★☆☆☆☆ Found in Text Mining only
Plagiocephaly	Plagiocephaly	ORPHANET_DG	23354436		★☆☆☆☆ Found in Text Mining only
Plagiocephaly	Plagiocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28651494		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28651494, 33985534	Associate	★☆☆☆☆ Found in Text Mining only
Saethre-Chotzen Syndrome	Saethre-Chotzen Syndrome	BEFREE	25271085, 29215649, 30392078		★☆☆☆☆ Found in Text Mining only
Scaphycephaly	Scaphocephaly	CTD_human_DG	23354436		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30982999		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	21999571	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	BEFREE	24736737		★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	Pubtator	24736737	Associate	★☆☆☆☆ Found in Text Mining only
Synostotic Anterior Plagiocephaly	Synostotic Anterior Plagiocephaly	CTD_human_DG	23354436		★☆☆☆☆ Found in Text Mining only
Synostotic Posterior Plagiocephaly	Synostotic Posterior Plagiocephaly	CTD_human_DG	23354436		★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	BEFREE	28803914		★☆☆☆☆ Found in Text Mining only
Trigonocephaly	Trigonocephaly	CTD_human_DG	23354436		★☆☆☆☆ Found in Text Mining only