SOX11 (SRY-box transcription factor 11)

Gene

• Entrez ID: 6664
• Gene name: SRY-box transcription factor 11
• Gene symbol: SOX11
• Synonyms (NCBI Gene): CSS9, IDDMOH, MRD27
• Chromosome: 2
• Chromosome location: 2p25.2
• Summary: This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulato

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1057518187	C>A	Pathogenic	Coding sequence variant, stop gained
rs1057518282	GCGGCGGC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057518672	G>A	Pathogenic	Coding sequence variant, stop gained
rs1553327863	A>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1553327954	C>A	Pathogenic	Stop gained, coding sequence variant
rs1553327990	ACCCGCCGCCGCTCGCGCA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553328057	GAACCTGTCCCTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1572217107	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019474	hsa-miR-148b-3p	Microarray	17612493
MIRT022064	hsa-miR-128-3p	Microarray	17612493
MIRT042780	hsa-miR-339-5p	CLASH	23622248
MIRT053649	hsa-miR-145-5p	Microarray	22942087
MIRT053725	hsa-miR-221-3p	Microarray	22942087
MIRT489556	hsa-miR-4270	PAR-CLIP	20371350
MIRT489555	hsa-miR-4441	PAR-CLIP	20371350
MIRT489554	hsa-miR-6754-5p	PAR-CLIP	20371350
MIRT489553	hsa-miR-539-5p	PAR-CLIP	20371350
MIRT489552	hsa-miR-7854-3p	PAR-CLIP	20371350
MIRT489551	hsa-miR-766-5p	PAR-CLIP	20371350
MIRT489550	hsa-miR-7154-3p	PAR-CLIP	20371350
MIRT489549	hsa-miR-765	PAR-CLIP	20371350
MIRT489548	hsa-miR-6894-5p	PAR-CLIP	20371350
MIRT489547	hsa-miR-3689d	PAR-CLIP	20371350
MIRT489546	hsa-miR-6851-5p	PAR-CLIP	20371350
MIRT489545	hsa-miR-7847-3p	PAR-CLIP	20371350
MIRT504490	hsa-miR-21-3p	PAR-CLIP	20371350
MIRT504489	hsa-miR-3591-3p	PAR-CLIP	20371350
MIRT495179	hsa-miR-136-3p	PAR-CLIP	20371350
MIRT504488	hsa-miR-4528	PAR-CLIP	20371350
MIRT504487	hsa-miR-505-3p	PAR-CLIP	20371350
MIRT495178	hsa-miR-197-3p	PAR-CLIP	20371350
MIRT569838	hsa-miR-6808-5p	PAR-CLIP	20371350
MIRT569837	hsa-miR-6893-5p	PAR-CLIP	20371350
MIRT569836	hsa-miR-940	PAR-CLIP	20371350
MIRT489556	hsa-miR-4270	PAR-CLIP	20371350
MIRT489555	hsa-miR-4441	PAR-CLIP	20371350
MIRT489554	hsa-miR-6754-5p	PAR-CLIP	20371350
MIRT489553	hsa-miR-539-5p	PAR-CLIP	20371350
MIRT489552	hsa-miR-7854-3p	PAR-CLIP	20371350
MIRT489551	hsa-miR-766-5p	PAR-CLIP	20371350
MIRT489550	hsa-miR-7154-3p	PAR-CLIP	20371350
MIRT489549	hsa-miR-765	PAR-CLIP	20371350
MIRT489548	hsa-miR-6894-5p	PAR-CLIP	20371350
MIRT489547	hsa-miR-3689d	PAR-CLIP	20371350
MIRT489546	hsa-miR-6851-5p	PAR-CLIP	20371350
MIRT569835	hsa-miR-1207-5p	PAR-CLIP	20371350
MIRT569834	hsa-miR-4763-3p	PAR-CLIP	20371350
MIRT489545	hsa-miR-7847-3p	PAR-CLIP	20371350
MIRT534105	hsa-miR-455-5p	PAR-CLIP	22012620
MIRT534104	hsa-miR-7844-5p	PAR-CLIP	22012620
MIRT243153	hsa-miR-1271-3p	PAR-CLIP	22012620
MIRT243152	hsa-miR-550a-3-5p	PAR-CLIP	22012620
MIRT243150	hsa-miR-550a-5p	PAR-CLIP	22012620
MIRT534103	hsa-miR-550b-2-5p	PAR-CLIP	22012620
MIRT243158	hsa-miR-25-3p	PAR-CLIP	22012620
MIRT243161	hsa-miR-363-3p	PAR-CLIP	22012620
MIRT243160	hsa-miR-92a-3p	PAR-CLIP	22012620
MIRT243163	hsa-miR-92b-3p	PAR-CLIP	22012620
MIRT243162	hsa-miR-367-3p	PAR-CLIP	22012620
MIRT243159	hsa-miR-32-5p	PAR-CLIP	22012620
MIRT243165	hsa-miR-3662	PAR-CLIP	22012620
MIRT243164	hsa-miR-1252-3p	PAR-CLIP	22012620
MIRT243166	hsa-miR-4698	PAR-CLIP	22012620
MIRT489553	hsa-miR-539-5p	PAR-CLIP	22012620
MIRT534102	hsa-miR-376a-5p	PAR-CLIP	22012620
MIRT243167	hsa-miR-4760-5p	PAR-CLIP	22012620
MIRT243169	hsa-miR-8061	PAR-CLIP	22012620
MIRT534101	hsa-miR-320e	PAR-CLIP	22012620
MIRT504490	hsa-miR-21-3p	PAR-CLIP	23446348
MIRT504489	hsa-miR-3591-3p	PAR-CLIP	23446348
MIRT495179	hsa-miR-136-3p	PAR-CLIP	23446348
MIRT504488	hsa-miR-4528	PAR-CLIP	23446348
MIRT504487	hsa-miR-505-3p	PAR-CLIP	23446348
MIRT495178	hsa-miR-197-3p	PAR-CLIP	23446348
MIRT495179	hsa-miR-136-3p	PAR-CLIP	23708386
MIRT495178	hsa-miR-197-3p	PAR-CLIP	23708386
MIRT489556	hsa-miR-4270	PAR-CLIP	23592263
MIRT489555	hsa-miR-4441	PAR-CLIP	23592263
MIRT489554	hsa-miR-6754-5p	PAR-CLIP	23592263
MIRT489553	hsa-miR-539-5p	PAR-CLIP	23592263
MIRT489552	hsa-miR-7854-3p	PAR-CLIP	23592263
MIRT489551	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT489550	hsa-miR-7154-3p	PAR-CLIP	23592263
MIRT489549	hsa-miR-765	PAR-CLIP	23592263
MIRT489548	hsa-miR-6894-5p	PAR-CLIP	23592263
MIRT489547	hsa-miR-3689d	PAR-CLIP	23592263
MIRT489546	hsa-miR-6851-5p	PAR-CLIP	23592263
MIRT489545	hsa-miR-7847-3p	PAR-CLIP	23592263
MIRT736054	hsa-miR-449a	Microarray	31513434
MIRT489556	hsa-miR-4270	PAR-CLIP	20371350
MIRT489555	hsa-miR-4441	PAR-CLIP	20371350
MIRT489554	hsa-miR-6754-5p	PAR-CLIP	20371350
MIRT489553	hsa-miR-539-5p	PAR-CLIP	20371350
MIRT489552	hsa-miR-7854-3p	PAR-CLIP	20371350
MIRT489551	hsa-miR-766-5p	PAR-CLIP	20371350
MIRT489550	hsa-miR-7154-3p	PAR-CLIP	20371350
MIRT489549	hsa-miR-765	PAR-CLIP	20371350
MIRT489548	hsa-miR-6894-5p	PAR-CLIP	20371350
MIRT489547	hsa-miR-3689d	PAR-CLIP	20371350
MIRT489546	hsa-miR-6851-5p	PAR-CLIP	20371350
MIRT489545	hsa-miR-7847-3p	PAR-CLIP	20371350
MIRT504490	hsa-miR-21-3p	PAR-CLIP	20371350
MIRT504489	hsa-miR-3591-3p	PAR-CLIP	20371350
MIRT495179	hsa-miR-136-3p	PAR-CLIP	20371350
MIRT504488	hsa-miR-4528	PAR-CLIP	20371350
MIRT504487	hsa-miR-505-3p	PAR-CLIP	20371350
MIRT495178	hsa-miR-197-3p	PAR-CLIP	20371350
MIRT569838	hsa-miR-6808-5p	PAR-CLIP	20371350
MIRT569837	hsa-miR-6893-5p	PAR-CLIP	20371350
MIRT569836	hsa-miR-940	PAR-CLIP	20371350
MIRT489556	hsa-miR-4270	PAR-CLIP	20371350
MIRT489555	hsa-miR-4441	PAR-CLIP	20371350
MIRT489554	hsa-miR-6754-5p	PAR-CLIP	20371350
MIRT489553	hsa-miR-539-5p	PAR-CLIP	20371350
MIRT489552	hsa-miR-7854-3p	PAR-CLIP	20371350
MIRT489551	hsa-miR-766-5p	PAR-CLIP	20371350
MIRT489550	hsa-miR-7154-3p	PAR-CLIP	20371350
MIRT489549	hsa-miR-765	PAR-CLIP	20371350
MIRT489548	hsa-miR-6894-5p	PAR-CLIP	20371350
MIRT489547	hsa-miR-3689d	PAR-CLIP	20371350
MIRT489546	hsa-miR-6851-5p	PAR-CLIP	20371350
MIRT569835	hsa-miR-1207-5p	PAR-CLIP	20371350
MIRT569834	hsa-miR-4763-3p	PAR-CLIP	20371350
MIRT489545	hsa-miR-7847-3p	PAR-CLIP	20371350
MIRT534105	hsa-miR-455-5p	PAR-CLIP	22012620
MIRT534104	hsa-miR-7844-5p	PAR-CLIP	22012620
MIRT243153	hsa-miR-1271-3p	PAR-CLIP	22012620
MIRT243152	hsa-miR-550a-3-5p	PAR-CLIP	22012620
MIRT243150	hsa-miR-550a-5p	PAR-CLIP	22012620
MIRT534103	hsa-miR-550b-2-5p	PAR-CLIP	22012620
MIRT243158	hsa-miR-25-3p	PAR-CLIP	22012620
MIRT243161	hsa-miR-363-3p	PAR-CLIP	22012620
MIRT243160	hsa-miR-92a-3p	PAR-CLIP	22012620
MIRT243163	hsa-miR-92b-3p	PAR-CLIP	22012620
MIRT243162	hsa-miR-367-3p	PAR-CLIP	22012620
MIRT243159	hsa-miR-32-5p	PAR-CLIP	22012620
MIRT243165	hsa-miR-3662	PAR-CLIP	22012620
MIRT243164	hsa-miR-1252-3p	PAR-CLIP	22012620
MIRT243166	hsa-miR-4698	PAR-CLIP	22012620
MIRT489553	hsa-miR-539-5p	PAR-CLIP	22012620
MIRT534102	hsa-miR-376a-5p	PAR-CLIP	22012620
MIRT243167	hsa-miR-4760-5p	PAR-CLIP	22012620
MIRT243169	hsa-miR-8061	PAR-CLIP	22012620
MIRT534101	hsa-miR-320e	PAR-CLIP	22012620
MIRT504490	hsa-miR-21-3p	PAR-CLIP	23446348
MIRT504489	hsa-miR-3591-3p	PAR-CLIP	23446348
MIRT495179	hsa-miR-136-3p	PAR-CLIP	23446348
MIRT504488	hsa-miR-4528	PAR-CLIP	23446348
MIRT504487	hsa-miR-505-3p	PAR-CLIP	23446348
MIRT495178	hsa-miR-197-3p	PAR-CLIP	23446348
MIRT495179	hsa-miR-136-3p	PAR-CLIP	23708386
MIRT495178	hsa-miR-197-3p	PAR-CLIP	23708386
MIRT489556	hsa-miR-4270	PAR-CLIP	23592263
MIRT489555	hsa-miR-4441	PAR-CLIP	23592263
MIRT489554	hsa-miR-6754-5p	PAR-CLIP	23592263
MIRT489553	hsa-miR-539-5p	PAR-CLIP	23592263
MIRT489552	hsa-miR-7854-3p	PAR-CLIP	23592263
MIRT489551	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT489550	hsa-miR-7154-3p	PAR-CLIP	23592263
MIRT489549	hsa-miR-765	PAR-CLIP	23592263
MIRT489548	hsa-miR-6894-5p	PAR-CLIP	23592263
MIRT489547	hsa-miR-3689d	PAR-CLIP	23592263
MIRT489546	hsa-miR-6851-5p	PAR-CLIP	23592263
MIRT489545	hsa-miR-7847-3p	PAR-CLIP	23592263
MIRT756112	hsa-miR-937-3p	Luciferase reporter assay, Western blotting, qRT-PCR, Immunohistochemistry (IHC), Immunofluorescence	35033084
MIRT1380118	hsa-miR-105	CLIP-seq
MIRT1380119	hsa-miR-1253	CLIP-seq
MIRT1380120	hsa-miR-125a-5p	CLIP-seq
MIRT1380121	hsa-miR-125b	CLIP-seq
MIRT1380122	hsa-miR-1305	CLIP-seq
MIRT1380123	hsa-miR-142-5p	CLIP-seq
MIRT1380124	hsa-miR-1470	CLIP-seq
MIRT1380125	hsa-miR-155	CLIP-seq
MIRT1380126	hsa-miR-1827	CLIP-seq
MIRT1380127	hsa-miR-1908	CLIP-seq
MIRT1380128	hsa-miR-1973	CLIP-seq
MIRT1380129	hsa-miR-224	CLIP-seq
MIRT1380130	hsa-miR-296-5p	CLIP-seq
MIRT1380131	hsa-miR-3065-3p	CLIP-seq
MIRT1380132	hsa-miR-3130-3p	CLIP-seq
MIRT1380133	hsa-miR-3138	CLIP-seq
MIRT1380134	hsa-miR-3148	CLIP-seq
MIRT1380135	hsa-miR-3155	CLIP-seq
MIRT1380136	hsa-miR-3155b	CLIP-seq
MIRT1380137	hsa-miR-3175	CLIP-seq
MIRT1380138	hsa-miR-3178	CLIP-seq
MIRT1380139	hsa-miR-3195	CLIP-seq
MIRT1380140	hsa-miR-3202	CLIP-seq
MIRT1380141	hsa-miR-340	CLIP-seq
MIRT1380142	hsa-miR-3611	CLIP-seq
MIRT1380143	hsa-miR-3617	CLIP-seq
MIRT1380144	hsa-miR-3667-3p	CLIP-seq
MIRT1380145	hsa-miR-376c	CLIP-seq
MIRT1380146	hsa-miR-3911	CLIP-seq
MIRT1380147	hsa-miR-3929	CLIP-seq
MIRT1380148	hsa-miR-3960	CLIP-seq
MIRT1380149	hsa-miR-4258	CLIP-seq
MIRT1380150	hsa-miR-4275	CLIP-seq
MIRT1380151	hsa-miR-4281	CLIP-seq
MIRT1380152	hsa-miR-4282	CLIP-seq
MIRT1380153	hsa-miR-4319	CLIP-seq
MIRT1380154	hsa-miR-4325	CLIP-seq
MIRT1380155	hsa-miR-4419b	CLIP-seq
MIRT1380156	hsa-miR-4434	CLIP-seq
MIRT1380157	hsa-miR-4455	CLIP-seq
MIRT1380158	hsa-miR-4470	CLIP-seq
MIRT1380159	hsa-miR-4478	CLIP-seq
MIRT1380160	hsa-miR-4480	CLIP-seq
MIRT1380161	hsa-miR-4516	CLIP-seq
MIRT1380162	hsa-miR-4520a-3p	CLIP-seq
MIRT1380163	hsa-miR-4539	CLIP-seq
MIRT1380164	hsa-miR-4660	CLIP-seq
MIRT1380165	hsa-miR-4667-3p	CLIP-seq
MIRT1380166	hsa-miR-4680-5p	CLIP-seq
MIRT1380167	hsa-miR-4709-3p	CLIP-seq
MIRT1380168	hsa-miR-4712-3p	CLIP-seq
MIRT1380169	hsa-miR-4720-3p	CLIP-seq
MIRT1380170	hsa-miR-4732-3p	CLIP-seq
MIRT1380171	hsa-miR-4738-3p	CLIP-seq
MIRT1380172	hsa-miR-4742-5p	CLIP-seq
MIRT1380173	hsa-miR-4747-5p	CLIP-seq
MIRT1380174	hsa-miR-4749-3p	CLIP-seq
MIRT1380175	hsa-miR-4753-3p	CLIP-seq
MIRT1380176	hsa-miR-4764-3p	CLIP-seq
MIRT1380177	hsa-miR-4783-5p	CLIP-seq
MIRT1380178	hsa-miR-4793-3p	CLIP-seq
MIRT1380179	hsa-miR-4800-5p	CLIP-seq
MIRT1380180	hsa-miR-4804-3p	CLIP-seq
MIRT1380181	hsa-miR-484	CLIP-seq
MIRT1380182	hsa-miR-485-5p	CLIP-seq
MIRT1380183	hsa-miR-511	CLIP-seq
MIRT1380184	hsa-miR-539	CLIP-seq
MIRT1380185	hsa-miR-544	CLIP-seq
MIRT1380186	hsa-miR-548c-3p	CLIP-seq
MIRT1380187	hsa-miR-548g	CLIP-seq
MIRT1380188	hsa-miR-597	CLIP-seq
MIRT1380189	hsa-miR-607	CLIP-seq
MIRT1380190	hsa-miR-627	CLIP-seq
MIRT1380191	hsa-miR-641	CLIP-seq
MIRT1380192	hsa-miR-642a	CLIP-seq
MIRT1380193	hsa-miR-661	CLIP-seq
MIRT1380194	hsa-miR-663	CLIP-seq
MIRT1380195	hsa-miR-665	CLIP-seq
MIRT1380196	hsa-miR-670	CLIP-seq
MIRT1380197	hsa-miR-744	CLIP-seq
MIRT1380198	hsa-miR-758	CLIP-seq
MIRT1380199	hsa-miR-873	CLIP-seq
MIRT1380200	hsa-miR-924	CLIP-seq
MIRT1380144	hsa-miR-3667-3p	CLIP-seq
MIRT1380192	hsa-miR-642a	CLIP-seq
MIRT1380144	hsa-miR-3667-3p	CLIP-seq
MIRT1380124	hsa-miR-1470	CLIP-seq
MIRT1380144	hsa-miR-3667-3p	CLIP-seq
MIRT1380165	hsa-miR-4667-3p	CLIP-seq
MIRT1380192	hsa-miR-642a	CLIP-seq
MIRT1380124	hsa-miR-1470	CLIP-seq
MIRT1380144	hsa-miR-3667-3p	CLIP-seq
MIRT1380165	hsa-miR-4667-3p	CLIP-seq
MIRT1380192	hsa-miR-642a	CLIP-seq
MIRT1380124	hsa-miR-1470	CLIP-seq
MIRT1380144	hsa-miR-3667-3p	CLIP-seq
MIRT1380165	hsa-miR-4667-3p	CLIP-seq
MIRT1380192	hsa-miR-642a	CLIP-seq
MIRT2113661	hsa-miR-137	CLIP-seq
MIRT1380124	hsa-miR-1470	CLIP-seq
MIRT2113662	hsa-miR-197	CLIP-seq
MIRT2113663	hsa-miR-3064-3p	CLIP-seq
MIRT2113664	hsa-miR-3125	CLIP-seq
MIRT1380134	hsa-miR-3148	CLIP-seq
MIRT2113665	hsa-miR-3150a-3p	CLIP-seq
MIRT1380137	hsa-miR-3175	CLIP-seq
MIRT1380144	hsa-miR-3667-3p	CLIP-seq
MIRT2113666	hsa-miR-3916	CLIP-seq
MIRT1380147	hsa-miR-3929	CLIP-seq
MIRT1380152	hsa-miR-4282	CLIP-seq
MIRT2113667	hsa-miR-4307	CLIP-seq
MIRT2113668	hsa-miR-4326	CLIP-seq
MIRT2113669	hsa-miR-4418	CLIP-seq
MIRT1380155	hsa-miR-4419b	CLIP-seq
MIRT2113670	hsa-miR-4446-3p	CLIP-seq
MIRT1380159	hsa-miR-4478	CLIP-seq
MIRT1380163	hsa-miR-4539	CLIP-seq
MIRT2113671	hsa-miR-4659a-5p	CLIP-seq
MIRT2113672	hsa-miR-4659b-5p	CLIP-seq
MIRT1380165	hsa-miR-4667-3p	CLIP-seq
MIRT1380166	hsa-miR-4680-5p	CLIP-seq
MIRT2113673	hsa-miR-4716-5p	CLIP-seq
MIRT1380176	hsa-miR-4764-3p	CLIP-seq
MIRT1380182	hsa-miR-485-5p	CLIP-seq
MIRT2113674	hsa-miR-509-3-5p	CLIP-seq
MIRT2113675	hsa-miR-509-5p	CLIP-seq
MIRT2113676	hsa-miR-590-3p	CLIP-seq
MIRT2113677	hsa-miR-639	CLIP-seq
MIRT1380192	hsa-miR-642a	CLIP-seq
MIRT2113678	hsa-miR-720	CLIP-seq
MIRT2113679	hsa-miR-939	CLIP-seq
MIRT2336564	hsa-miR-101	CLIP-seq
MIRT2336565	hsa-miR-1184	CLIP-seq
MIRT2336566	hsa-miR-1203	CLIP-seq
MIRT2336567	hsa-miR-1205	CLIP-seq
MIRT2336568	hsa-miR-1231	CLIP-seq
MIRT2336569	hsa-miR-128	CLIP-seq
MIRT2336570	hsa-miR-1283	CLIP-seq
MIRT2336571	hsa-miR-129-5p	CLIP-seq
MIRT1380122	hsa-miR-1305	CLIP-seq
MIRT2336572	hsa-miR-1321	CLIP-seq
MIRT1380123	hsa-miR-142-5p	CLIP-seq
MIRT2336573	hsa-miR-144	CLIP-seq
MIRT2336574	hsa-miR-145	CLIP-seq
MIRT1380124	hsa-miR-1470	CLIP-seq
MIRT2336575	hsa-miR-148a	CLIP-seq
MIRT2336576	hsa-miR-148b	CLIP-seq
MIRT2336577	hsa-miR-150	CLIP-seq
MIRT2336578	hsa-miR-152	CLIP-seq
MIRT2336579	hsa-miR-153	CLIP-seq
MIRT2336580	hsa-miR-1538	CLIP-seq
MIRT2336581	hsa-miR-186	CLIP-seq
MIRT2336582	hsa-miR-1915	CLIP-seq
MIRT2113662	hsa-miR-197	CLIP-seq
MIRT2336583	hsa-miR-1976	CLIP-seq
MIRT2336584	hsa-miR-202	CLIP-seq
MIRT2336585	hsa-miR-2053	CLIP-seq
MIRT2336586	hsa-miR-221	CLIP-seq
MIRT2336587	hsa-miR-222	CLIP-seq
MIRT2336588	hsa-miR-223	CLIP-seq
MIRT1380129	hsa-miR-224	CLIP-seq
MIRT2336589	hsa-miR-27a	CLIP-seq
MIRT2336590	hsa-miR-27b	CLIP-seq
MIRT1380130	hsa-miR-296-5p	CLIP-seq
MIRT2336591	hsa-miR-300	CLIP-seq
MIRT2113663	hsa-miR-3064-3p	CLIP-seq
MIRT2336592	hsa-miR-3074-3p	CLIP-seq
MIRT2336593	hsa-miR-30a	CLIP-seq
MIRT2336594	hsa-miR-30b	CLIP-seq
MIRT2336595	hsa-miR-30c	CLIP-seq
MIRT2336596	hsa-miR-30d	CLIP-seq
MIRT2336597	hsa-miR-30e	CLIP-seq
MIRT2336598	hsa-miR-3120-3p	CLIP-seq
MIRT2336599	hsa-miR-3120-5p	CLIP-seq
MIRT1380132	hsa-miR-3130-3p	CLIP-seq
MIRT2336600	hsa-miR-3133	CLIP-seq
MIRT1380134	hsa-miR-3148	CLIP-seq
MIRT2113665	hsa-miR-3150a-3p	CLIP-seq
MIRT2336601	hsa-miR-3150a-5p	CLIP-seq
MIRT2336602	hsa-miR-3150b-5p	CLIP-seq
MIRT2336603	hsa-miR-3158-5p	CLIP-seq
MIRT2336604	hsa-miR-3162-3p	CLIP-seq
MIRT2336605	hsa-miR-3166	CLIP-seq
MIRT2336606	hsa-miR-3168	CLIP-seq
MIRT2336607	hsa-miR-3173-3p	CLIP-seq
MIRT1380137	hsa-miR-3175	CLIP-seq
MIRT2336608	hsa-miR-3180-5p	CLIP-seq
MIRT2336609	hsa-miR-3189-3p	CLIP-seq
MIRT2336610	hsa-miR-3189-5p	CLIP-seq
MIRT2336611	hsa-miR-3194-3p	CLIP-seq
MIRT2336612	hsa-miR-3200-3p	CLIP-seq
MIRT1380140	hsa-miR-3202	CLIP-seq
MIRT2336613	hsa-miR-324-5p	CLIP-seq
MIRT2336614	hsa-miR-331-5p	CLIP-seq
MIRT2336615	hsa-miR-338-3p	CLIP-seq
MIRT2336616	hsa-miR-33a	CLIP-seq
MIRT2336617	hsa-miR-33b	CLIP-seq
MIRT2336618	hsa-miR-34b	CLIP-seq
MIRT2336619	hsa-miR-3610	CLIP-seq
MIRT2336620	hsa-miR-3613-3p	CLIP-seq
MIRT1380143	hsa-miR-3617	CLIP-seq
MIRT2336621	hsa-miR-3621	CLIP-seq
MIRT2336622	hsa-miR-3653	CLIP-seq
MIRT2336623	hsa-miR-3658	CLIP-seq
MIRT1380144	hsa-miR-3667-3p	CLIP-seq
MIRT2336624	hsa-miR-3672	CLIP-seq
MIRT2336625	hsa-miR-381	CLIP-seq
MIRT2336626	hsa-miR-3908	CLIP-seq
MIRT2336627	hsa-miR-3909	CLIP-seq
MIRT2336628	hsa-miR-3913-3p	CLIP-seq
MIRT2336629	hsa-miR-3914	CLIP-seq
MIRT2336630	hsa-miR-3919	CLIP-seq
MIRT2336631	hsa-miR-3921	CLIP-seq
MIRT2336632	hsa-miR-3925-5p	CLIP-seq
MIRT1380147	hsa-miR-3929	CLIP-seq
MIRT2336633	hsa-miR-3978	CLIP-seq
MIRT2336634	hsa-miR-4264	CLIP-seq
MIRT2336635	hsa-miR-4267	CLIP-seq
MIRT2336636	hsa-miR-4272	CLIP-seq
MIRT2336637	hsa-miR-4277	CLIP-seq
MIRT1380152	hsa-miR-4282	CLIP-seq
MIRT2336638	hsa-miR-4287	CLIP-seq
MIRT2336639	hsa-miR-4297	CLIP-seq
MIRT2113667	hsa-miR-4307	CLIP-seq
MIRT2336640	hsa-miR-4310	CLIP-seq
MIRT2336641	hsa-miR-4323	CLIP-seq
MIRT2336642	hsa-miR-4328	CLIP-seq
MIRT1380155	hsa-miR-4419b	CLIP-seq
MIRT2336643	hsa-miR-4436a	CLIP-seq
MIRT2336644	hsa-miR-4447	CLIP-seq
MIRT1380157	hsa-miR-4455	CLIP-seq
MIRT2336645	hsa-miR-4469	CLIP-seq
MIRT2336646	hsa-miR-4472	CLIP-seq
MIRT2336647	hsa-miR-4475	CLIP-seq
MIRT2336648	hsa-miR-4476	CLIP-seq
MIRT1380159	hsa-miR-4478	CLIP-seq
MIRT2336649	hsa-miR-4488	CLIP-seq
MIRT2336650	hsa-miR-4490	CLIP-seq
MIRT2336651	hsa-miR-4492	CLIP-seq
MIRT2336652	hsa-miR-4498	CLIP-seq
MIRT2336653	hsa-miR-4505	CLIP-seq
MIRT2336654	hsa-miR-4527	CLIP-seq
MIRT2336655	hsa-miR-4530	CLIP-seq
MIRT2336656	hsa-miR-4532	CLIP-seq
MIRT1380163	hsa-miR-4539	CLIP-seq
MIRT2336657	hsa-miR-4649-3p	CLIP-seq
MIRT2336658	hsa-miR-4651	CLIP-seq
MIRT2336659	hsa-miR-4653-5p	CLIP-seq
MIRT2336660	hsa-miR-4659a-3p	CLIP-seq
MIRT2336661	hsa-miR-4659b-3p	CLIP-seq
MIRT2336662	hsa-miR-4662a-3p	CLIP-seq
MIRT2336663	hsa-miR-4666-3p	CLIP-seq
MIRT1380165	hsa-miR-4667-3p	CLIP-seq
MIRT2336664	hsa-miR-4667-5p	CLIP-seq
MIRT2336665	hsa-miR-4678	CLIP-seq
MIRT1380166	hsa-miR-4680-5p	CLIP-seq
MIRT2336666	hsa-miR-4685-3p	CLIP-seq
MIRT2336667	hsa-miR-4691-5p	CLIP-seq
MIRT2336668	hsa-miR-4695-5p	CLIP-seq
MIRT2336669	hsa-miR-4697-5p	CLIP-seq
MIRT2336670	hsa-miR-4700-5p	CLIP-seq
MIRT2336671	hsa-miR-4705	CLIP-seq
MIRT2336672	hsa-miR-4707-5p	CLIP-seq
MIRT1380168	hsa-miR-4712-3p	CLIP-seq
MIRT2336673	hsa-miR-4713-5p	CLIP-seq
MIRT2336674	hsa-miR-4714-5p	CLIP-seq
MIRT2336675	hsa-miR-4715-3p	CLIP-seq
MIRT2336676	hsa-miR-4722-3p	CLIP-seq
MIRT2336677	hsa-miR-4726-3p	CLIP-seq
MIRT2336678	hsa-miR-4728-5p	CLIP-seq
MIRT2336679	hsa-miR-4731-3p	CLIP-seq
MIRT2336680	hsa-miR-4731-5p	CLIP-seq
MIRT2336681	hsa-miR-4739	CLIP-seq
MIRT1380172	hsa-miR-4742-5p	CLIP-seq
MIRT2336682	hsa-miR-4745-3p	CLIP-seq
MIRT2336683	hsa-miR-4756-5p	CLIP-seq
MIRT2336684	hsa-miR-4762-5p	CLIP-seq
MIRT1380176	hsa-miR-4764-3p	CLIP-seq
MIRT2336685	hsa-miR-4768-5p	CLIP-seq
MIRT2336686	hsa-miR-4771	CLIP-seq
MIRT2336687	hsa-miR-4774-5p	CLIP-seq
MIRT2336688	hsa-miR-4775	CLIP-seq
MIRT2336689	hsa-miR-4776-3p	CLIP-seq
MIRT2336690	hsa-miR-4778-3p	CLIP-seq
MIRT1380178	hsa-miR-4793-3p	CLIP-seq
MIRT2336691	hsa-miR-4796-5p	CLIP-seq
MIRT2336692	hsa-miR-4797-3p	CLIP-seq
MIRT2336693	hsa-miR-4801	CLIP-seq
MIRT2336694	hsa-miR-485-3p	CLIP-seq
MIRT1380182	hsa-miR-485-5p	CLIP-seq
MIRT2336695	hsa-miR-491-5p	CLIP-seq
MIRT2336696	hsa-miR-499-3p	CLIP-seq
MIRT2336697	hsa-miR-499a-3p	CLIP-seq
MIRT2336698	hsa-miR-499a-5p	CLIP-seq
MIRT2336699	hsa-miR-500a	CLIP-seq
MIRT2336700	hsa-miR-501-5p	CLIP-seq
MIRT2336701	hsa-miR-502-5p	CLIP-seq
MIRT2336702	hsa-miR-503	CLIP-seq
MIRT2336703	hsa-miR-508-5p	CLIP-seq
MIRT2336704	hsa-miR-513a-5p	CLIP-seq
MIRT2336705	hsa-miR-520a-5p	CLIP-seq
MIRT2336706	hsa-miR-525-5p	CLIP-seq
MIRT1380186	hsa-miR-548c-3p	CLIP-seq
MIRT2336707	hsa-miR-548v	CLIP-seq
MIRT2113676	hsa-miR-590-3p	CLIP-seq
MIRT2336708	hsa-miR-601	CLIP-seq
MIRT2336709	hsa-miR-603	CLIP-seq
MIRT1380189	hsa-miR-607	CLIP-seq
MIRT2336710	hsa-miR-608	CLIP-seq
MIRT2336711	hsa-miR-617	CLIP-seq
MIRT2336712	hsa-miR-622	CLIP-seq
MIRT2336713	hsa-miR-626	CLIP-seq
MIRT1380190	hsa-miR-627	CLIP-seq
MIRT2336714	hsa-miR-635	CLIP-seq
MIRT2336715	hsa-miR-637	CLIP-seq
MIRT1380191	hsa-miR-641	CLIP-seq
MIRT1380192	hsa-miR-642a	CLIP-seq
MIRT2336716	hsa-miR-645	CLIP-seq
MIRT2336717	hsa-miR-760	CLIP-seq
MIRT2336718	hsa-miR-762	CLIP-seq
MIRT2336719	hsa-miR-891b	CLIP-seq
MIRT1380200	hsa-miR-924	CLIP-seq
MIRT2113679	hsa-miR-939	CLIP-seq
MIRT2336720	hsa-miR-942	CLIP-seq
MIRT2336582	hsa-miR-1915	CLIP-seq
MIRT2336613	hsa-miR-324-5p	CLIP-seq
MIRT1380144	hsa-miR-3667-3p	CLIP-seq
MIRT2336644	hsa-miR-4447	CLIP-seq
MIRT2336646	hsa-miR-4472	CLIP-seq
MIRT2336649	hsa-miR-4488	CLIP-seq
MIRT2336651	hsa-miR-4492	CLIP-seq
MIRT2336652	hsa-miR-4498	CLIP-seq
MIRT2336653	hsa-miR-4505	CLIP-seq
MIRT2336658	hsa-miR-4651	CLIP-seq
MIRT1380164	hsa-miR-4660	CLIP-seq
MIRT2336664	hsa-miR-4667-5p	CLIP-seq
MIRT2336669	hsa-miR-4697-5p	CLIP-seq
MIRT2336670	hsa-miR-4700-5p	CLIP-seq
MIRT2336677	hsa-miR-4726-3p	CLIP-seq
MIRT2336680	hsa-miR-4731-5p	CLIP-seq
MIRT2394956	hsa-miR-4767	CLIP-seq
MIRT2336710	hsa-miR-608	CLIP-seq
MIRT1380192	hsa-miR-642a	CLIP-seq
MIRT2336718	hsa-miR-762	CLIP-seq
MIRT2460255	hsa-miR-1229	CLIP-seq
MIRT2113662	hsa-miR-197	CLIP-seq
MIRT2460256	hsa-miR-3160-5p	CLIP-seq
MIRT2460257	hsa-miR-3183	CLIP-seq
MIRT2460258	hsa-miR-4641	CLIP-seq
MIRT2336660	hsa-miR-4659a-3p	CLIP-seq
MIRT2336661	hsa-miR-4659b-3p	CLIP-seq
MIRT2460259	hsa-miR-4723-3p	CLIP-seq
MIRT2460260	hsa-miR-548a-5p	CLIP-seq
MIRT2460261	hsa-miR-548ab	CLIP-seq
MIRT2460262	hsa-miR-548ak	CLIP-seq
MIRT2460263	hsa-miR-548b-5p	CLIP-seq
MIRT2460264	hsa-miR-548c-5p	CLIP-seq
MIRT2460265	hsa-miR-548d-5p	CLIP-seq
MIRT2460266	hsa-miR-548h	CLIP-seq
MIRT2460267	hsa-miR-548i	CLIP-seq
MIRT2460268	hsa-miR-548j	CLIP-seq
MIRT2460269	hsa-miR-548n	CLIP-seq
MIRT2460270	hsa-miR-548w	CLIP-seq
MIRT2460271	hsa-miR-548y	CLIP-seq
MIRT2460272	hsa-miR-559	CLIP-seq
MIRT2460258	hsa-miR-4641	CLIP-seq
MIRT2460260	hsa-miR-548a-5p	CLIP-seq
MIRT2460261	hsa-miR-548ab	CLIP-seq
MIRT2460262	hsa-miR-548ak	CLIP-seq
MIRT2460263	hsa-miR-548b-5p	CLIP-seq
MIRT2460264	hsa-miR-548c-5p	CLIP-seq
MIRT2460265	hsa-miR-548d-5p	CLIP-seq
MIRT2460266	hsa-miR-548h	CLIP-seq
MIRT2460267	hsa-miR-548i	CLIP-seq
MIRT2460268	hsa-miR-548j	CLIP-seq
MIRT2460269	hsa-miR-548n	CLIP-seq
MIRT2460270	hsa-miR-548w	CLIP-seq
MIRT2460271	hsa-miR-548y	CLIP-seq
MIRT2460272	hsa-miR-559	CLIP-seq
MIRT2336640	hsa-miR-4310	CLIP-seq
MIRT2336690	hsa-miR-4778-3p	CLIP-seq
MIRT2336640	hsa-miR-4310	CLIP-seq
MIRT2336690	hsa-miR-4778-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	19808959
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000976	Function	Transcription cis-regulatory region binding	ISS
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	19808959, 21124928
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS
GO:0001822	Process	Kidney development	IEA
GO:0002089	Process	Lens morphogenesis in camera-type eye	IEA
GO:0002089	Process	Lens morphogenesis in camera-type eye	ISS
GO:0003151	Process	Outflow tract morphogenesis	IEA
GO:0003151	Process	Outflow tract morphogenesis	ISS
GO:0003357	Process	Noradrenergic neuron differentiation	IEA
GO:0003357	Process	Noradrenergic neuron differentiation	ISS
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	ISS
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	17934069
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0007399	Process	Nervous system development	IEA
GO:0007399	Process	Nervous system development	ISS
GO:0007420	Process	Brain development	IBA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IMP	19808959
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	IMP	19808959
GO:0014003	Process	Oligodendrocyte development	IEA
GO:0014009	Process	Glial cell proliferation	IEA
GO:0014009	Process	Glial cell proliferation	ISS
GO:0017015	Process	Regulation of transforming growth factor beta receptor signaling pathway	IEP	20624318
GO:0021510	Process	Spinal cord development	IEA
GO:0021510	Process	Spinal cord development	ISS
GO:0021782	Process	Glial cell development	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030182	Process	Neuron differentiation	IBA
GO:0030182	Process	Neuron differentiation	IEP	10574465
GO:0030513	Process	Positive regulation of BMP signaling pathway	IEA
GO:0030513	Process	Positive regulation of BMP signaling pathway	ISS
GO:0035332	Process	Positive regulation of hippo signaling	IEA
GO:0035332	Process	Positive regulation of hippo signaling	ISS
GO:0035914	Process	Skeletal muscle cell differentiation	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	IMP	19808959
GO:0045669	Process	Positive regulation of osteoblast differentiation	IMP	20626275
GO:0045778	Process	Positive regulation of ossification	IEA
GO:0045778	Process	Positive regulation of ossification	IMP	20626275
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	21124928
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS	18403418
GO:0046887	Process	Positive regulation of hormone secretion	IEA
GO:0046887	Process	Positive regulation of hormone secretion	ISS
GO:0048485	Process	Sympathetic nervous system development	IEA
GO:0048485	Process	Sympathetic nervous system development	ISS
GO:0048557	Process	Embryonic digestive tract morphogenesis	IEA
GO:0048557	Process	Embryonic digestive tract morphogenesis	ISS
GO:0048593	Process	Camera-type eye morphogenesis	IBA
GO:0048704	Process	Embryonic skeletal system morphogenesis	IEA
GO:0048704	Process	Embryonic skeletal system morphogenesis	ISS
GO:0050672	Process	Negative regulation of lymphocyte proliferation	IMP	20624318
GO:0050769	Process	Positive regulation of neurogenesis	IEA
GO:0050769	Process	Positive regulation of neurogenesis	ISS
GO:0060022	Process	Hard palate development	IEA
GO:0060022	Process	Hard palate development	ISS
GO:0060023	Process	Soft palate development	IEA
GO:0060023	Process	Soft palate development	ISS
GO:0060253	Process	Negative regulation of glial cell proliferation	IEA
GO:0060253	Process	Negative regulation of glial cell proliferation	IMP	19808959
GO:0060412	Process	Ventricular septum morphogenesis	IEA
GO:0060412	Process	Ventricular septum morphogenesis	ISS
GO:0060425	Process	Lung morphogenesis	IEA
GO:0060425	Process	Lung morphogenesis	ISS
GO:0060563	Process	Neuroepithelial cell differentiation	IEA
GO:0060563	Process	Neuroepithelial cell differentiation	ISS
GO:0061029	Process	Eyelid development in camera-type eye	IEA
GO:0061029	Process	Eyelid development in camera-type eye	ISS
GO:0061303	Process	Cornea development in camera-type eye	IEA
GO:0061303	Process	Cornea development in camera-type eye	ISS
GO:0061386	Process	Closure of optic fissure	IEA
GO:0061386	Process	Closure of optic fissure	ISS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA
GO:2000648	Process	Positive regulation of stem cell proliferation	IMP	20626275
GO:2000678	Process	Negative regulation of transcription regulatory region DNA binding	ISS
GO:2001111	Process	Positive regulation of lens epithelial cell proliferation	IEA
GO:2001111	Process	Positive regulation of lens epithelial cell proliferation	ISS

Other IDs

• MIM: 600898
• HGNC: 11191
• e!Ensembl: ENSG00000176887

Protein

• UniProt ID: P35716
• Protein name: Transcription factor SOX-11
• Protein function: Transcription factor that acts as a transcriptional activator (PubMed:24886874, PubMed:26543203). Binds cooperatively with POU3F2/BRN2 or POU3F1/OCT6 to gene promoters, which enhances transcriptional activation (By similarity). Acts as a transcr
• PDB: 6T78, 6T7A, 6T7C, 6T7D
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00505	HMG_box	49 → 117	HMG (high mobility group) box	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed primarily in the brain and heart, with low expression in the kidney, pancreas and muscle. {ECO:0000269|PubMed:24886874}.
• Sequence:

  MVQQAESLEAESNLPREALDTEEGEFMACSPVALDESDPDWCKTASGHIKRPMNAFMVWS
  KIERRKIMEQSPDMHNAEISKRLGKRWKMLKDSEKIPFIREAERLRLKHMADYPDYKYRP
  RKKPKMDPSAKPSASQSPEKSAAGGGGGSAGGGAGGAKTSKGSSKKCGKLKAPAAAGAKA
  GAGKAAQSGDYGGAGDDYVLGSLRVSGSGGGGAGKTVKCVFLDEDDDDDDDDDELQLQIK
  QEPDEEDEEPPHQQLLQPPGQQPSQLLRRYNVAKVPASPTLSSSAESPEGASLYDEVRAG
  ATSGAGGGSRLYYSFKNITKQHPPPLAQPALSPASSRSVSTSSSSSSGSSSGSSGEDADD
  LMFDLSLNFSQSAHSASEQQLGGGAAAGNLSLSLVDKDLDSFSEGSLGSHFEFPDYCTPE
  LSEMIAGDWLEANFSDLVFTY

• Sequence length: 441

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
Craniosynostosis syndrome	Likely pathogenic	rs2103276364	RCV001849680	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypogonadotropic hypogonadism	Pathogenic; Likely pathogenic	rs1252447458, rs2465088616, rs2465087457, rs1064794628, rs2465087534	RCV004586392 RCV004586397 RCV004586398 RCV004586399 RCV004586400	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism	Likely pathogenic; Pathogenic	rs780122780, rs2103276330, rs2103276338, rs1441654871, rs1553327809, rs2103276750, rs587777480, rs2103276337, rs2103276340, rs1064794702, rs2465087401, rs2465087380, rs2465087455, rs2103276364, rs1306957190, rs2465087392, rs2465087399, rs2465087396, rs2465087408, rs2465087446, rs2465087460, rs2465087515, rs2465087521, rs2465087527, rs1665662335, rs2465088378, rs2465087384, rs2465087382, rs2103276324, rs1572216329, rs2465087402, rs1553328038, rs2465088961, rs1057518672, rs1064794628, rs1553327954, rs1558373252, rs1558373293, rs1572217107, rs1665661372	RCV001331021 RCV003150828 RCV003150829 RCV001775379 RCV001806379 RCV001823019 RCV000128429 RCV002249178 RCV002246735 RCV002283700 RCV002465425 RCV002468797 RCV002468798 RCV003150843 RCV003150852 RCV003150853 RCV003150854 RCV003150855 RCV003150856 RCV003150857 RCV003150858 RCV003150859 RCV003150860 RCV003150861 RCV003150862 RCV003150863 RCV003150865 RCV003150866 RCV003150869 RCV003150870 RCV003150872 RCV003150873 RCV003150874 RCV003150875 RCV003150876 RCV003223481 RCV003441166 RCV003484530 RCV004554975 RCV000414848 RCV003150820 RCV003224877 RCV000735210 RCV000760282 RCV000824995 RCV000995881 RCV001089956 RCV001251188	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SOX11-related disorder	Likely pathogenic	rs1064794702, rs1215459755, rs2465087382	RCV004731258 RCV003894420 RCV003959061	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARCINOMA, ADENOID CYSTIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coffin-Siris syndrome	Conflicting classifications of pathogenicity	ClinVar CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
COFFIN-SIRIS SYNDROME 9	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pituitary stalk interruption syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SALIVARY GLAND NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	19880779		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	30221780		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	29315911		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	CTD_human_DG	16762588		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	12125983, 18577562		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	26578390		★☆☆☆☆ Found in Text Mining only
Apraxia oculomotor Cogan type	Apraxia	Pubtator	33785884	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	34995380	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	23619925, 30221780		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	23619925	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	20624318, 21943380, 23321250, 31688139		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	25773392, 29315911		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	21586619, 30134837		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone marrow diseases	Pubtator	29771407	Stimulate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23506684, 25041022		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25041022, 25880212, 26894864, 27857161, 32043610	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	19880778, 19880779, 23246412		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	19880778, 19880779, 38620074	Associate	★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of kidney and urinary tract	BEFREE	29459093		★☆☆☆☆ Found in Text Mining only
CAMPOMELIC DYSPLASIA	Campomelic Dysplasia	BEFREE	30902252		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	26578390	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	34996493	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	30221780		★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	26953815	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	30935961	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31531526, 35465267, 38084140	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	34996493	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	36745184	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	21586619, 30134837		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	21943380	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	34996493	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	BEFREE	25804118, 30221780		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	19272768, 21943380, 22738398, 28587313		★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular Abnormalities	BEFREE	28787104		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	30720133		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	30720133		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	12125983, 18577562		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	21479697, 25120048, 25608839		★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coffin-Siris syndrome	Coffin-Siris Syndrome	BEFREE	24886874, 26543203, 28787104, 29437512, 30661772, 31035284		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Coffin-Siris syndrome	Coffin-Siris Syndrome	ORPHANET_DG	24886874		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Coffin-Siris syndrome	Coffin-Siris Syndrome	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Coffin-Siris syndrome	Coffin-Siris Syndrome	GENOMICS_ENGLAND_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Coffin-Siris syndrome	Coffin-Siris Syndrome	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33629302	Associate	★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	26925788		★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	31173278		★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	36849876	Associate	★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	19651233, 24310815, 28787104		★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	BEFREE	25010521		★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	31292255	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	23867449		★☆☆☆☆ Found in Text Mining only
Cutis marmorata	Cutis marmorata	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cyclocephaly	Cyclocephaly	BEFREE	25010521		★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	30016600, 31078342		★☆☆☆☆ Found in Text Mining only
Desmoplastic Medulloblastoma	Medulloblastoma	BEFREE	12125983		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	26543203		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	33785884, 36849876	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	21479697, 23246412, 31688139		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	25010521		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	22752091		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	22752091	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	30661772		★☆☆☆☆ Found in Text Mining only
Dysmorphism	Dysmorphism	BEFREE	26830765, 30902252		★☆☆☆☆ Found in Text Mining only
Ectopic kidney	Ectopic kidney	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	30935961		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	30935961	Associate	★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	18577562		★☆☆☆☆ Found in Text Mining only
Epidermolysis bullosa with pyloric atresia	Epidermolysis bullosa	Pubtator	30850842	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	25766675		★☆☆☆☆ Found in Text Mining only
Episodic Ataxia	Episodic ataxia	Pubtator	30850842	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	19272768, 22738398		★☆☆☆☆ Found in Text Mining only
Fasciitis	Fasciitis	BEFREE	31327063		★☆☆☆☆ Found in Text Mining only
Fibromatosis	Fibromatosis	BEFREE	31327063		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	23619925, 29218546		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	23619925, 32897363, 36768267, 36980184	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	15583815, 20879984, 29218546		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	17934069	Stimulate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	23619925	Inhibit	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	30264483	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	33270637	Associate	★☆☆☆☆ Found in Text Mining only
Hairy Cell Leukemia	Hairy Cell Leukemia	BEFREE	19801969, 19880779, 20919851, 21479697, 22738398		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	28915052, 30922366		★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	36369738	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	20624318	Associate	★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	20624318, 25801783, 26925788		★☆☆☆☆ Found in Text Mining only
Hereditary Leiomyomatosis and Renal Cell Cancer	Hereditary Leiomyomatosis and Renal Cancer	BEFREE	29520657, 29615403		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	24681958		★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrichosis	HYPERTRICHOSIS	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism	Pubtator	33775534	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	29973868, 30661772		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
LAMB-SHAFFER SYNDROME	LAMB-SHAFFER SYNDROME	BEFREE	30902252		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	19801969		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	31296581	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Hairy Cell	Hairy cell leukemia	Pubtator	19801969, 19880779	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Mast-Cell	Leukemia	BEFREE	29520657, 29615403		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	26925788, 30517979, 31531526		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	23867449	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	19880779		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	17934069, 19880779, 21124928, 22058203, 24145648, 29196411		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	21738649	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	18729857		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative syndrome	Pubtator	20624318	Associate	★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	15583815, 23619925		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	28915052, 30922366		★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	17934069, 18729857, 19801969, 19880778, 19880779, 20919851, 21124928, 22827557, 23321250, 23466598, 24145648, 24681958, 24878000, 25120048, 26757780, 27430213, 27720733, 28429312, 28466437, 28533307, 29158064, 29738333, 29771407, 30530749, 30768440, 30922366, 31173643, 31296581, 31646825, 31714947		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23506684, 25041022		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	30935961		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	21943380, 28587313		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	25773392, 29315911		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of salivary gland	Malignant neoplasm of salivary gland	CTD_human_DG	16762588		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	24604109, 25801783, 26925788		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	28703321		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	21586619, 30134837		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19880779, 21738649, 25880212, 28533307, 28915052, 30134837, 31210798, 31714947		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	30720133		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	17934069, 18729857, 19801969, 19880778, 19880779, 20124476, 20919851, 21124928, 21479697, 21880559, 22615102, 22738398, 22827557, 23255553, 23321250, 23429984, 23466598, 23640973, 24145648, 24273091, 24352646, 24681958, 24878000, 25120048, 26103436, 26261659, 26757780, 26998831, 27430213, 27720733, 27846393, 28109040, 28429312, 28466437, 28533307, 28626618, 28699667, 29158064, 29520657, 29615403, 29738333, 29771407, 30221780, 30530749, 30768440, 30922366, 30963600, 31173643, 31296581, 31646825, 31714947, 31808882		★☆☆☆☆ Found in Text Mining only
Marginal Zone B-Cell Lymphoma	B-Cell Lymphoma	BEFREE	27720733		★☆☆☆☆ Found in Text Mining only
Mature B-Cell Neoplasm	B-Cell Neoplasm	BEFREE	29738333		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	12125983, 18577562		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	18577562	Stimulate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	23867449		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	23867449	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	23867449	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	21157382	Associate	★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 27	Mental retardation	UNIPROT_DG	24886874		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 27	Mental retardation	GENOMICS_ENGLAND_DG	26543203		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 27	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	26543203		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	BEFREE	25010521		★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	32586027	Associate	★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	BEFREE	27720733		★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	15254231, 24886874, 26543203		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	19801969		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	26763361	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	26925788		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12125983, 19651233, 19801969, 20124476, 20624318, 20919851, 21738649, 21880559, 21943380, 23321250, 23506684, 23867449, 24402778, 24604109, 25041022, 25608839, 25773392, 25804118, 26925788, 27720733, 28533307, 28707729, 29218546, 29272888, 29315911, 29615403, 29738333, 30221780, 30517979, 30935961, 31173643, 31210798, 31714947		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	30276805, 36882421	Associate	★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	26543203, 31035284		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	25804118		★☆☆☆☆ Found in Text Mining only
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Classical Hodgkin lymphoma	BEFREE	28038705		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	28707729		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	25963547	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	19011694	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	21943380, 28587313		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	21943380, 28587313	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	31298337, 31327063		★☆☆☆☆ Found in Text Mining only
Partial agenesis of corpus callosum	Partial Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	29746989		★☆☆☆☆ Found in Text Mining only
Pierre Robin Syndrome	Pierre-Robin Syndrome	BEFREE	26826126		★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	19880779		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	25773392, 29315911		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	29315911	Inhibit	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	34944472	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	30221780		★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasm	CTD_human_DG	16762588		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	23867449		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	22084397, 25804118		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	34996493, 35402616	Associate	★☆☆☆☆ Found in Text Mining only
Spina Bifida Occulta	Spina bifida occulta	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	30922366		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	24604109, 25801783, 26925788		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	19880779, 22738398		★☆☆☆☆ Found in Text Mining only
Temporal hypotrichosis	Temporal hypotrichosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	28703321		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	28703321		★☆☆☆☆ Found in Text Mining only
Trigonocephaly	Trigonocephaly	BEFREE	15540175		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	33536579, 34965257	Associate	★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	26826126, 29437512		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	21586619, 30134837	Associate	★☆☆☆☆ Found in Text Mining only
Usher Syndrome Type IG	Usher syndrome	Pubtator	38620074	Associate	★☆☆☆☆ Found in Text Mining only