TBX2 (T-box transcription factor 2)

Gene

• Entrez ID: 6909
• Gene name: T-box transcription factor 2
• Gene symbol: TBX2
• Synonyms (NCBI Gene): VETD
• Chromosome: 17
• Chromosome location: 17q23.2
• Summary: This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product is the human homolog

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1555877071	G>A	Uncertain-significance, pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022554	hsa-miR-124-3p	Microarray	18668037
MIRT037721	hsa-miR-744-5p	CLASH	23622248
MIRT616088	hsa-miR-6801-3p	HITS-CLIP	19536157
MIRT616087	hsa-miR-6810-3p	HITS-CLIP	19536157
MIRT616086	hsa-miR-331-3p	HITS-CLIP	19536157
MIRT616085	hsa-miR-4292	HITS-CLIP	19536157
MIRT616084	hsa-miR-6791-5p	HITS-CLIP	19536157
MIRT616083	hsa-miR-6852-5p	HITS-CLIP	19536157
MIRT616082	hsa-miR-4667-5p	HITS-CLIP	19536157
MIRT616081	hsa-miR-4700-5p	HITS-CLIP	19536157
MIRT616080	hsa-miR-8089	HITS-CLIP	19536157
MIRT616079	hsa-miR-3144-5p	HITS-CLIP	19536157
MIRT616078	hsa-miR-3191-3p	HITS-CLIP	19536157
MIRT616077	hsa-miR-4652-5p	HITS-CLIP	19536157
MIRT616076	hsa-miR-6826-3p	HITS-CLIP	19536157
MIRT616075	hsa-miR-6810-5p	HITS-CLIP	19536157
MIRT616074	hsa-miR-3679-3p	HITS-CLIP	19536157
MIRT616073	hsa-miR-4446-5p	HITS-CLIP	19536157
MIRT616085	hsa-miR-4292	HITS-CLIP	23824327
MIRT616084	hsa-miR-6791-5p	HITS-CLIP	23824327
MIRT616083	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT616082	hsa-miR-4667-5p	HITS-CLIP	23824327
MIRT616081	hsa-miR-4700-5p	HITS-CLIP	23824327
MIRT616080	hsa-miR-8089	HITS-CLIP	23824327
MIRT616079	hsa-miR-3144-5p	HITS-CLIP	23824327
MIRT616078	hsa-miR-3191-3p	HITS-CLIP	23824327
MIRT616077	hsa-miR-4652-5p	HITS-CLIP	23824327
MIRT616076	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT616075	hsa-miR-6810-5p	HITS-CLIP	23824327
MIRT616074	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT616073	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT616085	hsa-miR-4292	HITS-CLIP	23824327
MIRT616084	hsa-miR-6791-5p	HITS-CLIP	23824327
MIRT616083	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT616082	hsa-miR-4667-5p	HITS-CLIP	23824327
MIRT616081	hsa-miR-4700-5p	HITS-CLIP	23824327
MIRT616080	hsa-miR-8089	HITS-CLIP	23824327
MIRT616079	hsa-miR-3144-5p	HITS-CLIP	23824327
MIRT616078	hsa-miR-3191-3p	HITS-CLIP	23824327
MIRT616077	hsa-miR-4652-5p	HITS-CLIP	23824327
MIRT616076	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT616075	hsa-miR-6810-5p	HITS-CLIP	23824327
MIRT616074	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT616073	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT616085	hsa-miR-4292	HITS-CLIP	23824327
MIRT616084	hsa-miR-6791-5p	HITS-CLIP	23824327
MIRT616083	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT616082	hsa-miR-4667-5p	HITS-CLIP	23824327
MIRT616081	hsa-miR-4700-5p	HITS-CLIP	23824327
MIRT616080	hsa-miR-8089	HITS-CLIP	23824327
MIRT616079	hsa-miR-3144-5p	HITS-CLIP	23824327
MIRT616078	hsa-miR-3191-3p	HITS-CLIP	23824327
MIRT616077	hsa-miR-4652-5p	HITS-CLIP	23824327
MIRT616076	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT616075	hsa-miR-6810-5p	HITS-CLIP	23824327
MIRT616074	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT616073	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT616088	hsa-miR-6801-3p	HITS-CLIP	23824327
MIRT616087	hsa-miR-6810-3p	HITS-CLIP	23824327
MIRT616086	hsa-miR-331-3p	HITS-CLIP	23824327
MIRT616085	hsa-miR-4292	HITS-CLIP	23824327
MIRT616084	hsa-miR-6791-5p	HITS-CLIP	23824327
MIRT616083	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT616082	hsa-miR-4667-5p	HITS-CLIP	23824327
MIRT616081	hsa-miR-4700-5p	HITS-CLIP	23824327
MIRT616080	hsa-miR-8089	HITS-CLIP	23824327
MIRT616079	hsa-miR-3144-5p	HITS-CLIP	23824327
MIRT616078	hsa-miR-3191-3p	HITS-CLIP	23824327
MIRT616077	hsa-miR-4652-5p	HITS-CLIP	23824327
MIRT616076	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT616075	hsa-miR-6810-5p	HITS-CLIP	23824327
MIRT616074	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT616073	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT616088	hsa-miR-6801-3p	HITS-CLIP	19536157
MIRT616087	hsa-miR-6810-3p	HITS-CLIP	19536157
MIRT616086	hsa-miR-331-3p	HITS-CLIP	19536157
MIRT616085	hsa-miR-4292	HITS-CLIP	19536157
MIRT616084	hsa-miR-6791-5p	HITS-CLIP	19536157
MIRT616083	hsa-miR-6852-5p	HITS-CLIP	19536157
MIRT616082	hsa-miR-4667-5p	HITS-CLIP	19536157
MIRT616081	hsa-miR-4700-5p	HITS-CLIP	19536157
MIRT616080	hsa-miR-8089	HITS-CLIP	19536157
MIRT616079	hsa-miR-3144-5p	HITS-CLIP	19536157
MIRT616078	hsa-miR-3191-3p	HITS-CLIP	19536157
MIRT616077	hsa-miR-4652-5p	HITS-CLIP	19536157
MIRT616076	hsa-miR-6826-3p	HITS-CLIP	19536157
MIRT616075	hsa-miR-6810-5p	HITS-CLIP	19536157
MIRT616074	hsa-miR-3679-3p	HITS-CLIP	19536157
MIRT616073	hsa-miR-4446-5p	HITS-CLIP	19536157
MIRT616085	hsa-miR-4292	HITS-CLIP	23824327
MIRT616084	hsa-miR-6791-5p	HITS-CLIP	23824327
MIRT616083	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT616082	hsa-miR-4667-5p	HITS-CLIP	23824327
MIRT616081	hsa-miR-4700-5p	HITS-CLIP	23824327
MIRT616080	hsa-miR-8089	HITS-CLIP	23824327
MIRT616079	hsa-miR-3144-5p	HITS-CLIP	23824327
MIRT616078	hsa-miR-3191-3p	HITS-CLIP	23824327
MIRT616077	hsa-miR-4652-5p	HITS-CLIP	23824327
MIRT616076	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT616075	hsa-miR-6810-5p	HITS-CLIP	23824327
MIRT616074	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT616073	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT616085	hsa-miR-4292	HITS-CLIP	23824327
MIRT616084	hsa-miR-6791-5p	HITS-CLIP	23824327
MIRT616083	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT616082	hsa-miR-4667-5p	HITS-CLIP	23824327
MIRT616081	hsa-miR-4700-5p	HITS-CLIP	23824327
MIRT616080	hsa-miR-8089	HITS-CLIP	23824327
MIRT616079	hsa-miR-3144-5p	HITS-CLIP	23824327
MIRT616078	hsa-miR-3191-3p	HITS-CLIP	23824327
MIRT616077	hsa-miR-4652-5p	HITS-CLIP	23824327
MIRT616076	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT616075	hsa-miR-6810-5p	HITS-CLIP	23824327
MIRT616074	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT616073	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT616085	hsa-miR-4292	HITS-CLIP	23824327
MIRT616084	hsa-miR-6791-5p	HITS-CLIP	23824327
MIRT616083	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT616082	hsa-miR-4667-5p	HITS-CLIP	23824327
MIRT616081	hsa-miR-4700-5p	HITS-CLIP	23824327
MIRT616080	hsa-miR-8089	HITS-CLIP	23824327
MIRT616079	hsa-miR-3144-5p	HITS-CLIP	23824327
MIRT616078	hsa-miR-3191-3p	HITS-CLIP	23824327
MIRT616077	hsa-miR-4652-5p	HITS-CLIP	23824327
MIRT616076	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT616075	hsa-miR-6810-5p	HITS-CLIP	23824327
MIRT616074	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT616073	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT616088	hsa-miR-6801-3p	HITS-CLIP	23824327
MIRT616087	hsa-miR-6810-3p	HITS-CLIP	23824327
MIRT616086	hsa-miR-331-3p	HITS-CLIP	23824327
MIRT616085	hsa-miR-4292	HITS-CLIP	23824327
MIRT616084	hsa-miR-6791-5p	HITS-CLIP	23824327
MIRT616083	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT616082	hsa-miR-4667-5p	HITS-CLIP	23824327
MIRT616081	hsa-miR-4700-5p	HITS-CLIP	23824327
MIRT616080	hsa-miR-8089	HITS-CLIP	23824327
MIRT616079	hsa-miR-3144-5p	HITS-CLIP	23824327
MIRT616078	hsa-miR-3191-3p	HITS-CLIP	23824327
MIRT616077	hsa-miR-4652-5p	HITS-CLIP	23824327
MIRT616076	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT616075	hsa-miR-6810-5p	HITS-CLIP	23824327
MIRT616074	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT616073	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT1415159	hsa-miR-1178	CLIP-seq
MIRT1415160	hsa-miR-1203	CLIP-seq
MIRT1415161	hsa-miR-1207-5p	CLIP-seq
MIRT1415162	hsa-miR-1285	CLIP-seq
MIRT1415163	hsa-miR-1292	CLIP-seq
MIRT1415164	hsa-miR-146b-3p	CLIP-seq
MIRT1415165	hsa-miR-153	CLIP-seq
MIRT1415166	hsa-miR-15a	CLIP-seq
MIRT1415167	hsa-miR-15b	CLIP-seq
MIRT1415168	hsa-miR-16	CLIP-seq
MIRT1415169	hsa-miR-1909	CLIP-seq
MIRT1415170	hsa-miR-195	CLIP-seq
MIRT1415171	hsa-miR-21	CLIP-seq
MIRT1415172	hsa-miR-214	CLIP-seq
MIRT1415173	hsa-miR-2861	CLIP-seq
MIRT1415174	hsa-miR-296-5p	CLIP-seq
MIRT1415175	hsa-miR-3160-5p	CLIP-seq
MIRT1415176	hsa-miR-3187-5p	CLIP-seq
MIRT1415177	hsa-miR-3192	CLIP-seq
MIRT1415178	hsa-miR-3193	CLIP-seq
MIRT1415179	hsa-miR-320a	CLIP-seq
MIRT1415180	hsa-miR-320b	CLIP-seq
MIRT1415181	hsa-miR-320c	CLIP-seq
MIRT1415182	hsa-miR-320d	CLIP-seq
MIRT1415183	hsa-miR-324-5p	CLIP-seq
MIRT1415184	hsa-miR-326	CLIP-seq
MIRT1415185	hsa-miR-330-5p	CLIP-seq
MIRT1415186	hsa-miR-338-3p	CLIP-seq
MIRT1415187	hsa-miR-338-5p	CLIP-seq
MIRT1415188	hsa-miR-361-3p	CLIP-seq
MIRT1415189	hsa-miR-3618	CLIP-seq
MIRT1415190	hsa-miR-3619-5p	CLIP-seq
MIRT1415191	hsa-miR-3646	CLIP-seq
MIRT1415192	hsa-miR-3662	CLIP-seq
MIRT1415193	hsa-miR-378g	CLIP-seq
MIRT1415194	hsa-miR-3940-3p	CLIP-seq
MIRT1415195	hsa-miR-3941	CLIP-seq
MIRT1415196	hsa-miR-424	CLIP-seq
MIRT1415197	hsa-miR-4314	CLIP-seq
MIRT1415198	hsa-miR-4315	CLIP-seq
MIRT1415199	hsa-miR-4429	CLIP-seq
MIRT1415200	hsa-miR-4471	CLIP-seq
MIRT1415201	hsa-miR-448	CLIP-seq
MIRT1415202	hsa-miR-4486	CLIP-seq
MIRT1415203	hsa-miR-4514	CLIP-seq
MIRT1415204	hsa-miR-4520a-5p	CLIP-seq
MIRT1415205	hsa-miR-4520b-5p	CLIP-seq
MIRT1415206	hsa-miR-4530	CLIP-seq
MIRT1415207	hsa-miR-4646-5p	CLIP-seq
MIRT1415208	hsa-miR-466	CLIP-seq
MIRT1415209	hsa-miR-4672	CLIP-seq
MIRT1415210	hsa-miR-4685-5p	CLIP-seq
MIRT1415211	hsa-miR-4688	CLIP-seq
MIRT1415212	hsa-miR-4691-5p	CLIP-seq
MIRT1415213	hsa-miR-4692	CLIP-seq
MIRT1415214	hsa-miR-4699-3p	CLIP-seq
MIRT1415215	hsa-miR-4713-5p	CLIP-seq
MIRT1415216	hsa-miR-4718	CLIP-seq
MIRT1415217	hsa-miR-4719	CLIP-seq
MIRT1415218	hsa-miR-4731-3p	CLIP-seq
MIRT1415219	hsa-miR-4736	CLIP-seq
MIRT1415220	hsa-miR-4763-3p	CLIP-seq
MIRT1415221	hsa-miR-4778-5p	CLIP-seq
MIRT1415222	hsa-miR-4790-5p	CLIP-seq
MIRT1415223	hsa-miR-4801	CLIP-seq
MIRT1415224	hsa-miR-486-3p	CLIP-seq
MIRT1415225	hsa-miR-486-5p	CLIP-seq
MIRT1415226	hsa-miR-497	CLIP-seq
MIRT1415227	hsa-miR-544b	CLIP-seq
MIRT1415228	hsa-miR-578	CLIP-seq
MIRT1415229	hsa-miR-582-3p	CLIP-seq
MIRT1415230	hsa-miR-590-5p	CLIP-seq
MIRT1415231	hsa-miR-612	CLIP-seq
MIRT1415232	hsa-miR-617	CLIP-seq
MIRT1415233	hsa-miR-720	CLIP-seq
MIRT1415234	hsa-miR-760	CLIP-seq
MIRT1415235	hsa-miR-761	CLIP-seq
MIRT1415236	hsa-miR-939	CLIP-seq
MIRT1415159	hsa-miR-1178	CLIP-seq
MIRT2124554	hsa-miR-1180	CLIP-seq
MIRT2124555	hsa-miR-1184	CLIP-seq
MIRT2124556	hsa-miR-1202	CLIP-seq
MIRT2124557	hsa-miR-1207-3p	CLIP-seq
MIRT1415161	hsa-miR-1207-5p	CLIP-seq
MIRT2124558	hsa-miR-1224-3p	CLIP-seq
MIRT2124559	hsa-miR-1236	CLIP-seq
MIRT2124560	hsa-miR-1260	CLIP-seq
MIRT2124561	hsa-miR-1260b	CLIP-seq
MIRT2124562	hsa-miR-1280	CLIP-seq
MIRT1415162	hsa-miR-1285	CLIP-seq
MIRT2124563	hsa-miR-1293	CLIP-seq
MIRT2124564	hsa-miR-1304	CLIP-seq
MIRT2124565	hsa-miR-134	CLIP-seq
MIRT1415164	hsa-miR-146b-3p	CLIP-seq
MIRT2124566	hsa-miR-1470	CLIP-seq
MIRT2124567	hsa-miR-150	CLIP-seq
MIRT1415166	hsa-miR-15a	CLIP-seq
MIRT1415167	hsa-miR-15b	CLIP-seq
MIRT1415168	hsa-miR-16	CLIP-seq
MIRT1415169	hsa-miR-1909	CLIP-seq
MIRT2124568	hsa-miR-1915	CLIP-seq
MIRT1415170	hsa-miR-195	CLIP-seq
MIRT1415172	hsa-miR-214	CLIP-seq
MIRT2124569	hsa-miR-2467-5p	CLIP-seq
MIRT1415173	hsa-miR-2861	CLIP-seq
MIRT1415174	hsa-miR-296-5p	CLIP-seq
MIRT2124570	hsa-miR-3118	CLIP-seq
MIRT2124571	hsa-miR-3120-3p	CLIP-seq
MIRT2124572	hsa-miR-3127-5p	CLIP-seq
MIRT2124573	hsa-miR-3130-5p	CLIP-seq
MIRT2124574	hsa-miR-3135b	CLIP-seq
MIRT2124575	hsa-miR-3150a-3p	CLIP-seq
MIRT2124576	hsa-miR-3175	CLIP-seq
MIRT2124577	hsa-miR-3180-5p	CLIP-seq
MIRT1415176	hsa-miR-3187-5p	CLIP-seq
MIRT1415177	hsa-miR-3192	CLIP-seq
MIRT1415178	hsa-miR-3193	CLIP-seq
MIRT1415183	hsa-miR-324-5p	CLIP-seq
MIRT1415184	hsa-miR-326	CLIP-seq
MIRT1415185	hsa-miR-330-5p	CLIP-seq
MIRT1415186	hsa-miR-338-3p	CLIP-seq
MIRT1415187	hsa-miR-338-5p	CLIP-seq
MIRT1415188	hsa-miR-361-3p	CLIP-seq
MIRT1415189	hsa-miR-3618	CLIP-seq
MIRT1415190	hsa-miR-3619-5p	CLIP-seq
MIRT2124578	hsa-miR-362-5p	CLIP-seq
MIRT1415191	hsa-miR-3646	CLIP-seq
MIRT2124579	hsa-miR-3657	CLIP-seq
MIRT1415192	hsa-miR-3662	CLIP-seq
MIRT2124580	hsa-miR-378	CLIP-seq
MIRT2124581	hsa-miR-378b	CLIP-seq
MIRT2124582	hsa-miR-378c	CLIP-seq
MIRT2124583	hsa-miR-378d	CLIP-seq
MIRT2124584	hsa-miR-378e	CLIP-seq
MIRT2124585	hsa-miR-378f	CLIP-seq
MIRT2124586	hsa-miR-378h	CLIP-seq
MIRT2124587	hsa-miR-378i	CLIP-seq
MIRT2124588	hsa-miR-3908	CLIP-seq
MIRT1415194	hsa-miR-3940-3p	CLIP-seq
MIRT2124589	hsa-miR-3972	CLIP-seq
MIRT2124590	hsa-miR-422a	CLIP-seq
MIRT1415196	hsa-miR-424	CLIP-seq
MIRT2124591	hsa-miR-4267	CLIP-seq
MIRT2124592	hsa-miR-4268	CLIP-seq
MIRT2124593	hsa-miR-4270	CLIP-seq
MIRT2124594	hsa-miR-4293	CLIP-seq
MIRT1415197	hsa-miR-4314	CLIP-seq
MIRT2124595	hsa-miR-4328	CLIP-seq
MIRT2124596	hsa-miR-4421	CLIP-seq
MIRT2124597	hsa-miR-4441	CLIP-seq
MIRT2124598	hsa-miR-4482	CLIP-seq
MIRT2124599	hsa-miR-4483	CLIP-seq
MIRT1415203	hsa-miR-4514	CLIP-seq
MIRT1415204	hsa-miR-4520a-5p	CLIP-seq
MIRT1415205	hsa-miR-4520b-5p	CLIP-seq
MIRT1415206	hsa-miR-4530	CLIP-seq
MIRT2124600	hsa-miR-4535	CLIP-seq
MIRT2124601	hsa-miR-4638-3p	CLIP-seq
MIRT1415207	hsa-miR-4646-5p	CLIP-seq
MIRT2124602	hsa-miR-4660	CLIP-seq
MIRT2124603	hsa-miR-4667-3p	CLIP-seq
MIRT1415209	hsa-miR-4672	CLIP-seq
MIRT1415210	hsa-miR-4685-5p	CLIP-seq
MIRT1415211	hsa-miR-4688	CLIP-seq
MIRT2124604	hsa-miR-4690-3p	CLIP-seq
MIRT1415212	hsa-miR-4691-5p	CLIP-seq
MIRT1415213	hsa-miR-4692	CLIP-seq
MIRT1415215	hsa-miR-4713-5p	CLIP-seq
MIRT2124605	hsa-miR-4715-3p	CLIP-seq
MIRT1415216	hsa-miR-4718	CLIP-seq
MIRT2124606	hsa-miR-4726-3p	CLIP-seq
MIRT1415219	hsa-miR-4736	CLIP-seq
MIRT1415220	hsa-miR-4763-3p	CLIP-seq
MIRT1415221	hsa-miR-4778-5p	CLIP-seq
MIRT1415224	hsa-miR-486-3p	CLIP-seq
MIRT1415225	hsa-miR-486-5p	CLIP-seq
MIRT2124607	hsa-miR-491-5p	CLIP-seq
MIRT2124608	hsa-miR-492	CLIP-seq
MIRT1415226	hsa-miR-497	CLIP-seq
MIRT2124609	hsa-miR-500b	CLIP-seq
MIRT2124610	hsa-miR-532-3p	CLIP-seq
MIRT2124611	hsa-miR-550a	CLIP-seq
MIRT1415229	hsa-miR-582-3p	CLIP-seq
MIRT2124612	hsa-miR-593	CLIP-seq
MIRT1415231	hsa-miR-612	CLIP-seq
MIRT1415232	hsa-miR-617	CLIP-seq
MIRT2124613	hsa-miR-642a	CLIP-seq
MIRT2124614	hsa-miR-646	CLIP-seq
MIRT2124615	hsa-miR-653	CLIP-seq
MIRT1415233	hsa-miR-720	CLIP-seq
MIRT1415234	hsa-miR-760	CLIP-seq
MIRT1415235	hsa-miR-761	CLIP-seq
MIRT2124616	hsa-miR-892a	CLIP-seq
MIRT1415236	hsa-miR-939	CLIP-seq
MIRT2124617	hsa-miR-943	CLIP-seq
MIRT2124564	hsa-miR-1304	CLIP-seq
MIRT2124578	hsa-miR-362-5p	CLIP-seq
MIRT2124609	hsa-miR-500b	CLIP-seq
MIRT2124615	hsa-miR-653	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	11062467, 11111039, 30599067
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	12000749
GO:0000785	Component	Chromatin	IBA
GO:0000785	Component	Chromatin	ISA
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	11111039, 12000749, 30599067
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
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:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	11111039
GO:0001708	Process	Cell fate specification	IBA
GO:0001947	Process	Heart looping	ISS
GO:0003007	Process	Heart morphogenesis	IEA
GO:0003148	Process	Outflow tract septum morphogenesis	IEA
GO:0003148	Process	Outflow tract septum morphogenesis	ISS
GO:0003151	Process	Outflow tract morphogenesis	IEA
GO:0003151	Process	Outflow tract morphogenesis	ISS
GO:0003203	Process	Endocardial cushion morphogenesis	IEA
GO:0003203	Process	Endocardial cushion morphogenesis	ISS
GO:0003272	Process	Endocardial cushion formation	IEA
GO:0003272	Process	Endocardial cushion formation	IMP	22130515
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	8530034
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	22002537, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	15042700, 22844464, 29726930
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	ISS
GO:0006915	Process	Apoptotic process	IEA
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007521	Process	Muscle cell fate determination	IEA
GO:0007521	Process	Muscle cell fate determination	ISS
GO:0008016	Process	Regulation of heart contraction	ISS
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IEA
GO:0022008	Process	Neurogenesis	IEA
GO:0032526	Process	Response to retinoic acid	IEA
GO:0035050	Process	Embryonic heart tube development	ISS
GO:0035909	Process	Aorta morphogenesis	IEA
GO:0035909	Process	Aorta morphogenesis	ISS
GO:0036302	Process	Atrioventricular canal development	IEA
GO:0036302	Process	Atrioventricular canal development	ISS	22130515
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0042733	Process	Embryonic digit morphogenesis	ISS
GO:0042826	Function	Histone deacetylase binding	IEA
GO:0043474	Process	Pigment metabolic process involved in pigmentation	IEA
GO:0043565	Function	Sequence-specific DNA binding	IDA	11111039
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	10468588, 11062467, 11111039, 29726930
GO:0045892	Process	Negative 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	IEA
GO:0048596	Process	Embryonic camera-type eye morphogenesis	IEA
GO:0048596	Process	Embryonic camera-type eye morphogenesis	ISS
GO:0048738	Process	Cardiac muscle tissue development	IEA
GO:0048738	Process	Cardiac muscle tissue development	ISS
GO:0051145	Process	Smooth muscle cell differentiation	IEA
GO:0060021	Process	Roof of mouth development	IEA
GO:0060037	Process	Pharyngeal system development	IEA
GO:0060037	Process	Pharyngeal system development	ISS
GO:0060045	Process	Positive regulation of cardiac muscle cell proliferation	IEA
GO:0060045	Process	Positive regulation of cardiac muscle cell proliferation	ISS
GO:0060379	Process	Cardiac muscle cell myoblast differentiation	IEA
GO:0060441	Process	Epithelial tube branching involved in lung morphogenesis	IEA
GO:0060560	Process	Developmental growth involved in morphogenesis	IEA
GO:0060596	Process	Mammary placode formation	IEA
GO:0060916	Process	Mesenchymal cell proliferation involved in lung development	IEA
GO:0071549	Process	Cellular response to dexamethasone stimulus	IEA
GO:0072105	Process	Ureteric peristalsis	IEA
GO:0090103	Process	Cochlea morphogenesis	IEA
GO:0090398	Process	Cellular senescence	IDA	11748239, 22002537
GO:0090398	Process	Cellular senescence	IEA
GO:0097325	Process	Melanocyte proliferation	IEA
GO:0140297	Function	DNA-binding transcription factor binding	IEA
GO:1901208	Process	Negative regulation of heart looping	IEA
GO:1901208	Process	Negative regulation of heart looping	ISS
GO:1901211	Process	Negative regulation of cardiac chamber formation	IEA
GO:1901211	Process	Negative regulation of cardiac chamber formation	ISS
GO:1902808	Process	Positive regulation of cell cycle G1/S phase transition	IEA
GO:1905072	Process	Cardiac jelly development	IEA
GO:1905072	Process	Cardiac jelly development	IMP	22130515
GO:1905222	Process	Atrioventricular canal morphogenesis	IEA
GO:1905222	Process	Atrioventricular canal morphogenesis	ISS	22130515
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA
GO:2000773	Process	Negative regulation of cellular senescence	IDA	11062467
GO:2000773	Process	Negative regulation of cellular senescence	IMP	12000749

Other IDs

• MIM: 600747
• HGNC: 11597
• e!Ensembl: ENSG00000121068

Protein

• UniProt ID: Q13207
• Protein name: T-box transcription factor TBX2 (T-box protein 2)
• Protein function: Transcription factor which acts as a transcriptional repressor (PubMed:11062467, PubMed:11111039, PubMed:12000749, PubMed:22844464, PubMed:30599067). May also function as a transcriptional activator (By similarity). Binds to the palindromic T si
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00907	T-box	107 → 287	T-box	Domain
  PF12598	TBX	305 → 384	T-box transcription factor	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed primarily in adult in kidney, lung, and placenta. Weak expression in heart and ovary.
• Sequence:

  MREPALAASAMAYHPFHAPRPADFPMSAFLAAAQPSFFPALALPPGALAKPLPDPGLAGA
  AAAAAAAAAAAEAGLHVSALGPHPPAAHLRSLKSLEPEDEVEDDPKVTLEAKELWDQFHK
  LGTEMVITKSGRRMFPPFKVRVSGLDKKAKYILLMDIVAADDCRYKFHNSRWMVAGKADP
  EMPKRMYIHPDSPATGEQWMAKPVAFHKLKLTNNISDKHGFTILNSMHKYQPRFHIVRAN
  DILKLPYSTFRTYVFPETDFIAVTAYQNDKITQLKIDNNPFAKGFRDTGNGRREKRKQLT
  LPSLRLYEEHCKPERDGAESDASSCDPPPAREPPTSPGAAPSPLRLHRARAEEKSCAADS
  DPEPERLSEERAGAPLGRSPAPDSASPTRLTEPERARERRSPERGKEPAESGGDGPFGLR
  SLEKERAEARRKDEGRKEAAEGKEQGLAPLVVQTDSASPLGAGHLPGLAFSSHLHGQQFF
  GPLGAGQPLFLHPGQFTMGPGAFSAMGMGHLLASVAGGGNGGGGGPGTAAGLDAGGLGPA
  ASAASTAAPFPFHLSQHMLASQGIPMPTFGGLFPYPYTYMAAAAAAASALPATSAAAAAA
  AAAGSLSRSPFLGSARPRLRFSPYQIPVTIPPSTSLLTTGLASEGSKAAGGNSREPSPLP
  ELALRKVGAPSRGALSPSGSAKEAANELQSIQRLVSGLESQRALSPGRESPK

• Sequence length: 712

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
TBX2-related disorder	Likely pathogenic; Pathogenic	rs1603241575, rs1364709483	RCV003397371 RCV000625998	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Vertebral anomalies and variable endocrine and T-cell dysfunction	Likely pathogenic; Pathogenic	rs2509518787, rs1364709483, rs2060258573	RCV003326673 RCV000723359 RCV001257454	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATRIAL SEPTAL DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL SEPTAL DEFECT OF HEART	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROLITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROBLASTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	30425966		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	19216023		★☆☆☆☆ Found in Text Mining only
Alveolar capillary dysplasia	Alveolar capillary dysplasia	Pubtator	37821225	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	36895559	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	30599067		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	28260920		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrioventricular Septal Defect	Atrioventricular septal defect	BEFREE	21266775, 23727221		★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	22284968, 25394776		★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11062467, 15289316, 22844464, 23624936, 24742492		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	11774034, 19469638, 24113180, 24742492, 30777332, 31253870, 35687133	Associate	★☆☆☆☆ Found in Text Mining only
Cancer of Nasopharynx	Nasopharyngeal Cancer	BEFREE	28881763		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28981677	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	22284968, 25394776		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30425966		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	38070142	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	36478592	Associate	★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	31204702	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23959449		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30451831	Associate	★☆☆☆☆ Found in Text Mining only
Congenital absence of thymus	Aplasia of the thymus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	27833996		★☆☆☆☆ Found in Text Mining only
Congenital ectopic pupil	Congenital anomaly of eye	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital fusion of ribs	Rib fusion	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	20635360, 30262811		★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	30525309		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	BEFREE	27833996		★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	BEFREE	29522511		★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Conotruncal cardiac defects	Conotruncal cardiac defect	Pubtator	30223900, 37406974	Associate	★☆☆☆☆ Found in Text Mining only
Conotruncal defect	Conotruncal defect	BEFREE	30223900		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	35590109	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	BEFREE	23727221, 30262811, 30525309		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Development Disorder	BEFREE	12000749, 29726930		★☆☆☆☆ Found in Text Mining only
Double Outlet Right Ventricle	Double Outlet Right Ventricle	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectopic pupil	Ectopic Pupil	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	35311234	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	27874289	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	32271423	Stimulate	★☆☆☆☆ Found in Text Mining only
Glabellar hemangioma	Glabellar hemangioma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	28260920		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	28260920		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	34807923	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	37175507	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	21271665		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	GWASCAT_DG	27618447, 30487518		★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	31204702	Associate	★☆☆☆☆ Found in Text Mining only
Inguinal Hernia, Indirect	Inguinal Hernia	BEFREE	24309999		★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	15300007		★☆☆☆☆ Found in Text Mining only
Klippel-Feil Syndrome	Klippel Feil syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28981677		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	30866410	Inhibit	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	11062467, 15236312, 15289316, 19469638, 20348948, 23624936, 24742492, 30777332		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30425966		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of nasopharynx	Nasopharyngeal carcinoma	BEFREE	28881763		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	17700536, 19469638		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28108510, 28849151		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30651856		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	19960541, 22284968, 25394776		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17700536, 19960541, 22844464, 23959449, 25027744, 28108510, 28260920, 30396955		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	12097257, 12755490, 15781639, 20348948, 22844464, 23624936		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	15781639, 17700536, 18025091, 18829543, 19960541, 23020925		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	15781639, 18829543		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	20534814, 24113180	Associate	★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	28108510		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	28881763		★☆☆☆☆ Found in Text Mining only
Neck webbing	Neck Webbing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11034067, 12000749, 12755490, 16862154, 19469638, 22844464, 23959449, 25027744, 28108510, 28849151, 28881763, 29719592, 30089113, 30425966, 30651856		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	30127528, 30451831, 30599067		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	CTD_human_DG	30127528		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	Pubtator	30451831, 31819055, 37584517	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	25027744		★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasias	Pubtator	35311234	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	15354864		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	34440306	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Serous Adenocarcinoma	Ovarian serous adenocarcinoma	BEFREE	29435041		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	19469638		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	19469638	Associate	★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Preexcitation Syndrome	Wolff-Parkinson-White Syndrome	BEFREE	21266775		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28108510, 28849151		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28849151	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	37176017	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	29719592, 30979887		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	31988307	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spondylocostal dysostosis autosomal recessive	Spondylocostal dysostosis	Pubtator	35311234	Associate	★☆☆☆☆ Found in Text Mining only
Sprengel deformity	Sprengel Deformity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sprengel deformity	Sprengel Deformity	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30651856		★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Truncus Arteriosus, Persistent	Persistent truncus arteriosus	BEFREE	22284968		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	25394776	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	23388722	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular preexcitation	Ventricular preexcitation	BEFREE	21266775		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	23727221		★☆☆☆☆ Found in Text Mining only
VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION	Vertebral anomalies and variable endocrine and T-cell dysfunction	UNIPROT_DG	29726930		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION	Vertebral anomalies and variable endocrine and T-cell dysfunction	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)